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searching for Molecular Genetics and Metabolism 272 found (277 total)

alternate case: molecular Genetics and Metabolism

Battenin (1,268 words) [view diff] exact match in snippet view article find links to article

1999). "Intracellular trafficking of the JNCL protein CLN3". Molecular Genetics and Metabolism. 66 (4): 253–60. doi:10.1006/mgme.1999.2802. PMID 10191111
ACADS (1,232 words) [view diff] exact match in snippet view article find links to article
founder mutation in individuals of Ashkenazi Jewish origin". Molecular Genetics and Metabolism. 93 (2): 179–189. doi:10.1016/j.ymgme.2007.09.021. PMID 18054510
3-Hydroxy-3-methylglutaryl-CoA lyase deficiency (1,860 words) [view diff] exact match in snippet view article find links to article
Clinical presentation and outcome in a series of 37 patients". Molecular Genetics and Metabolism. 121 (3). Elsevier BV: 206–215. doi:10.1016/j.ymgme.2017.05
Methylmalonyl-CoA mutase (2,921 words) [view diff] exact match in snippet view article find links to article
"Genetic and genomic systems to study methylmalonic acidemia". Molecular Genetics and Metabolism. 86 (1–2): 34–43. doi:10.1016/j.ymgme.2005.07.020. PMC 2657357
Tyrosinemia (685 words) [view diff] exact match in snippet view article find links to article
detected via neonatal screening: management and outcome". Molecular Genetics and Metabolism. 107 (3): 605–7. doi:10.1016/j.ymgme.2012.09.002. PMID 23036342
ACADSB (1,142 words) [view diff] exact match in snippet view article find links to article
molecular studies on a defect in isoleucine catabolism". Molecular Genetics and Metabolism. 93 (1): 30–5. doi:10.1016/j.ymgme.2007.09.002. PMID 17945527
Emil Kakkis (1,312 words) [view diff] exact match in snippet view article find links to article
storage in the brain and meninges of the canine model of MPS I. Molecular Genetics and Metabolism. 83(1-2):163-174, 2004. Harmatz, P., Giugliani, R., Schwartz
PMM2 (1,071 words) [view diff] exact match in snippet view article find links to article
molecular basis of the classical Jaeken syndrome (CDGS type Ia)". Molecular Genetics and Metabolism. 68 (2): 220–6. doi:10.1006/mgme.1999.2914. PMID 10527672
Pyruvate dehydrogenase deficiency (2,217 words) [view diff] exact match in snippet view article find links to article
Clinical, Biochemical and Genetic Features in 371 Patients". Molecular Genetics and Metabolism. 105 (1): 34–43. doi:10.1016/j.ymgme.2011.09.032. ISSN 1096-7192
Pyridoxine-dependent epilepsy (718 words) [view diff] exact match in snippet view article find links to article
recommendations for diagnosis, treatment and follow-up". Molecular Genetics and Metabolism. 104 (1–2): 48–60. doi:10.1016/j.ymgme.2011.05.014. PMID 21704546
N-Acetylglutamate synthase (1,223 words) [view diff] exact match in snippet view article find links to article
"N-Acetylglutamate synthase: structure, function and defects". Molecular Genetics and Metabolism. 100 (Suppl 1): S13–9. doi:10.1016/j.ymgme.2010.02.018. PMC 2876818
Phenylacetylglutamine (985 words) [view diff] exact match in snippet view article find links to article
phenylacetate:phenylacetylglutamine ratio with plasma glutamine levels". Molecular Genetics and Metabolism. 122 (3): 39–45. doi:10.1016/j.ymgme.2017.08.011. PMID 28888854
GLUT2 (1,330 words) [view diff] exact match in snippet view article find links to article
understanding genetic association signals at this locus". Molecular Genetics and Metabolism. 104 (4): 648–53. doi:10.1016/j.ymgme.2011.08.026. PMID 21920790
Aldehyde dehydrogenase 5 family, member A1 (868 words) [view diff] exact match in snippet view article find links to article
accuracy employing DNA, enzyme, and metabolite analyses". Molecular Genetics and Metabolism. 72 (3): 218–22. doi:10.1006/mgme.2000.3145. PMID 11243727
GM1 gangliosidoses (1,077 words) [view diff] exact match in snippet view article find links to article
gangliosidoses: Mapping a timeline of clinical changes". Molecular Genetics and Metabolism. 121 (2): 170–179. doi:10.1016/j.ymgme.2017.04.011. PMC 5727905
5,10-methenyltetrahydrofolate synthetase deficiency (291 words) [view diff] exact match in snippet view article find links to article
novel findings of elevated neopterin and macrocytic anemia". Molecular Genetics and Metabolism Reports. 21: 100545. doi:10.1016/j.ymgmr.2019.100545. PMC 6895676
4-Hydroxyphenylpyruvate dioxygenase (1,645 words) [view diff] exact match in snippet view article find links to article
responsible for tyrosinemia type III and hawkinsinuria". Molecular Genetics and Metabolism. 71 (3): 506–10. doi:10.1006/mgme.2000.3085. PMID 11073718
Protoporphyrinogen oxidase (1,619 words) [view diff] exact match in snippet view article find links to article
porphyria in South Africa: genotypic analysis in two cases". Molecular Genetics and Metabolism. 69 (4): 323–30. doi:10.1006/mgme.2000.2975. PMID 10870850
Methylmalonic acid (1,215 words) [view diff] exact match in snippet view article find links to article
"Genetic and genomic systems to study methylmalonic acidemia". Molecular Genetics and Metabolism. 86 (1–2): 34–43. doi:10.1016/j.ymgme.2005.07.020. PMC 2657357
Tetrahydrobiopterin (2,818 words) [view diff] exact match in snippet view article find links to article
Conference: state of the science and future research needs". Molecular Genetics and Metabolism. 112 (2): 87–122. doi:10.1016/j.ymgme.2014.02.013. PMID 24667081
Urea cycle (2,219 words) [view diff] exact match in snippet view article find links to article
Kirmse, Brian (2013). "The incidence of urea cycle disorders". Molecular Genetics and Metabolism. 110 (1–2): 179–180. doi:10.1016/j.ymgme.2013.07.008. ISSN 1096-7192
Malonic aciduria (1,717 words) [view diff] exact match in snippet view article find links to article
abnormalities in a case of malonyl-CoA decarboxylase deficiency". Molecular Genetics and Metabolism. 87 (2): 102–6. doi:10.1016/j.ymgme.2005.09.009. PMID 16275149
HADHA (1,371 words) [view diff] exact match in snippet view article find links to article
disease in pregnancy and fetal fatty acid oxidation defects". Molecular Genetics and Metabolism. 71 (1–2): 182–9. doi:10.1006/mgme.2000.3065. PMID 11001809
CTNS (gene) (2,281 words) [view diff] exact match in snippet view article
deletion breakpoint in the nephropathic cystinosis gene (CTNS)". Molecular Genetics and Metabolism. 66 (2): 111–116. doi:10.1006/mgme.1998.2790. PMID 10068513
Simpson–Golabi–Behmel syndrome (1,690 words) [view diff] exact match in snippet view article find links to article
for Overgrowth, Malformation, and Cancer Predisposition". Molecular Genetics and Metabolism. 72 (4): 279–86. doi:10.1006/mgme.2001.3150. PMID 11286501
PDK4 (2,535 words) [view diff] exact match in snippet view article find links to article
increased lipid oxidation in insulin-resistant subjects". Molecular Genetics and Metabolism. 65 (2): 181–6. doi:10.1006/mgme.1998.2748. PMID 9787110.
ACO2 (1,885 words) [view diff] exact match in snippet view article find links to article
aconitase on the bioenergy of human prostate carcinoma cells". Molecular Genetics and Metabolism. 81 (3): 244–52. doi:10.1016/j.ymgme.2003.12.009. PMID 14972331
Carnitine palmitoyltransferase I (2,464 words) [view diff] exact match in snippet view article find links to article
"Genomics of the human carnitine acyltransferase genes". Molecular Genetics and Metabolism. 71 (1–2): 139–53. doi:10.1006/mgme.2000.3055. PMID 11001805
ALG6 (904 words) [view diff] exact match in snippet view article find links to article
a patient with congenital disorder of glycosylation Ic". Molecular Genetics and Metabolism. 70 (3): 219–23. doi:10.1006/mgme.2000.3017. PMID 10924277
Glucocerebrosidase (2,001 words) [view diff] exact match in snippet view article find links to article
(July 2012). "The role of saposin C in Gaucher disease". Molecular Genetics and Metabolism. 106 (3): 257–63. doi:10.1016/j.ymgme.2012.04.024. PMC 3534739
NDUFS7 (1,360 words) [view diff] exact match in snippet view article find links to article
complex I NDUFS7 subunit associated with Leigh syndrome". Molecular Genetics and Metabolism. 90 (4): 379–82. doi:10.1016/j.ymgme.2006.12.007. PMID 17275378
POMT1 (1,019 words) [view diff] exact match in snippet view article find links to article
gene from three French Walker Warburg syndrome families". Molecular Genetics and Metabolism. 90 (1): 93–6. doi:10.1016/j.ymgme.2006.09.005. PMID 17079174
2-Methylbutyryl-CoA dehydrogenase deficiency (500 words) [view diff] exact match in snippet view article find links to article
molecular studies on a defect in isoleucine catabolism". Molecular Genetics and Metabolism. 93 (1): 30–35. doi:10.1016/j.ymgme.2007.09.002. PMID 17945527
3 hydroxyisobutyric aciduria (451 words) [view diff] exact match in snippet view article find links to article
findings in three patients with 3-hydroxyisobutyric aciduria". Molecular Genetics and Metabolism. 87 (3). Elsevier BV: 243–248. doi:10.1016/j.ymgme.2005.09
DAX1 (1,842 words) [view diff] exact match in snippet view article find links to article
McCabe ER (2004). "Molecular mechanisms of DAX1 action". Molecular Genetics and Metabolism. 83 (1–2): 60–73. doi:10.1016/j.ymgme.2004.07.018. PMID 15464421
ETFA (2,140 words) [view diff] exact match in snippet view article find links to article
dehydrogenase-deficient patients with mild childhood presentation". Molecular Genetics and Metabolism. 67 (2): 138–47. doi:10.1006/mgme.1999.2856. PMID 10356313
Acute intermittent porphyria (2,766 words) [view diff] exact match in snippet view article find links to article
predictive value of genetic screening in acute porphyria". Molecular Genetics and Metabolism. 130 (1): 87–99. doi:10.1016/j.ymgme.2020.02.003. hdl:10138/327225
Costeff syndrome (1,264 words) [view diff] exact match in snippet view article find links to article
encodes two transcripts targeted primarily to mitochondria". Molecular Genetics and Metabolism. 100 (2): 149–154. doi:10.1016/j.ymgme.2010.03.005. ISSN 1096-7192
International Working Group on Neurotransmitter Related Disorders (195 words) [view diff] exact match in snippet view article find links to article
focused on primary and secondary neurotransmitter disorders". Molecular Genetics and Metabolism Reports. 9: 61–66. doi:10.1016/j.ymgmr.2016.09.006. PMC 5094101
MT-TP (910 words) [view diff] exact match in snippet view article find links to article
population and a contiguous gene deletion in an Arab patient". Molecular Genetics and Metabolism. 90 (4): 453–7. doi:10.1016/j.ymgme.2006.12.010. PMID 17275380
ETFB (2,257 words) [view diff] exact match in snippet view article find links to article
dehydrogenase-deficient patients with mild childhood presentation". Molecular Genetics and Metabolism. 67 (2): 138–47. doi:10.1006/mgme.1999.2856. PMID 10356313
Peroxisomal disorder (578 words) [view diff] exact match in snippet view article find links to article
biogenesis disorders in the Zellweger syndrome spectrum". Molecular Genetics and Metabolism. 83 (3): 252–263. doi:10.1016/j.ymgme.2004.08.008. PMID 15542397
Sepiapterin reductase deficiency (1,709 words) [view diff] exact match in snippet view article find links to article
deficiency an autosomal recessive DOPA-responsive dystonia. Molecular Genetics and Metabolism, 89(1-2), 116-120. Arrabal, L., Teresa, L., Sanchez-Alcudia
Mitochondrial DNA depletion syndrome (2,562 words) [view diff] exact match in snippet view article find links to article
the deoxyguanosine kinase and thymidine kinase 2 genes". Molecular Genetics and Metabolism. 84 (1): 75–82. doi:10.1016/j.ymgme.2004.09.005. PMID 15639197
SLC2A11 (370 words) [view diff] exact match in snippet view article find links to article
transporter that is alternatively spliced in various tissues". Molecular Genetics and Metabolism. 76 (1): 37–45. doi:10.1016/s1096-7192(02)00018-5. PMID 12175779
Phenylalanine ammonia-lyase (2,185 words) [view diff] exact match in snippet view article find links to article
substitution therapy for phenylketonuria, where are we now?". Molecular Genetics and Metabolism. 86 (Suppl 1): S22-6. doi:10.1016/j.ymgme.2005.06.016. PMID 16165390
Isovaleric acidemia (839 words) [view diff] exact match in snippet view article find links to article
(IVD) gene in Korean patients with isovaleric acidemia". Molecular Genetics and Metabolism. 92 (1–2): 71–7. doi:10.1016/j.ymgme.2007.05.003. PMC 4136440
SERAC1 (1,265 words) [view diff] exact match in snippet view article find links to article
in SERAC1 in a patient with 3-methylglutaconic aciduria". Molecular Genetics and Metabolism. 110 (1–2): 73–7. doi:10.1016/j.ymgme.2013.04.021. PMID 23707711
Phenylketonuria (6,179 words) [view diff] exact match in snippet view article find links to article
2015). "Cognitive functioning in mild hyperphenylalaninemia". Molecular Genetics and Metabolism Reports. 5: 72–75. doi:10.1016/j.ymgmr.2015.10.009. PMC 5471391
Pyruvate dehydrogenase (lipoamide) beta (2,645 words) [view diff] exact match in snippet view article
in four families with pyruvate dehydrogenase deficiency". Molecular Genetics and Metabolism. 93 (4): 371–80. doi:10.1016/j.ymgme.2007.10.135. PMID 18164639
MOCOS (364 words) [view diff] exact match in snippet view article find links to article
Sulfurase (HMCS) associated with type II classical xanthinuria". Molecular Genetics and Metabolism. 91 (1): 23–9. doi:10.1016/j.ymgme.2007.02.005. PMID 17368066
E3 binding protein (2,584 words) [view diff] exact match in snippet view article find links to article
gene in a patient with pyruvate dehydrogenase deficiency". Molecular Genetics and Metabolism. 89 (1–2): 106–10. doi:10.1016/j.ymgme.2006.06.002. PMID 16843025
Monocarboxylate transporter 5 (739 words) [view diff] exact match in snippet view article find links to article
antibodies raised against terminal versus pre-terminal peptides". Molecular Genetics and Metabolism. 87 (2): 152–61. doi:10.1016/j.ymgme.2005.09.029. PMID 16403666
Phenylalanine hydroxylase (3,687 words) [view diff] exact match in snippet view article find links to article
structures provide an updated understanding of phenylketonuria". Molecular Genetics and Metabolism. 121 (4): 289–296. doi:10.1016/j.ymgme.2017.06.005. PMC 5549558
3-Methylcrotonyl-CoA carboxylase deficiency (2,390 words) [view diff] exact match in snippet view article find links to article
management of 3-methylcrotonyl CoA carboxylase deficiency". Molecular Genetics and Metabolism. 93 (4). Elsevier BV: 363–370. doi:10.1016/j.ymgme.2007.11
CALN1 (312 words) [view diff] exact match in snippet view article find links to article
calneuron 1, a new member of the calmodulin superfamily". Molecular Genetics and Metabolism. 72 (4): 343–50. doi:10.1006/mgme.2001.3160. PMID 11286509
Pyruvate carboxylase deficiency (756 words) [view diff] exact match in snippet view article find links to article
clinical and biochemical response to anaplerotic diet therapy". Molecular Genetics and Metabolism. 84 (4): 305–312. doi:10.1016/j.ymgme.2004.09.007. ISSN 1096-7192
ABCG5 (1,144 words) [view diff] exact match in snippet view article find links to article
donor splice site mutation of ABCG5 gene in sitosterolemia". Molecular Genetics and Metabolism. 75 (2): 178–80. doi:10.1006/mgme.2001.3285. PMID 11855938
Mucolipidosis type IV (946 words) [view diff] exact match in snippet view article find links to article
; Goldin, E. (2011). "Mucolipidosis type IV: An update". Molecular Genetics and Metabolism. 104 (3): 206–213. doi:10.1016/j.ymgme.2011.06.006. PMC 3205274
Long-chain fatty acid transport protein 1 (598 words) [view diff] exact match in snippet view article find links to article
candidate gene polymorphisms and the metabolic syndrome". Molecular Genetics and Metabolism. 86 (1–2): 293–9. doi:10.1016/j.ymgme.2005.05.006. PMID 15978856
AADAT (171 words) [view diff] exact match in snippet view article find links to article
gene encoding alpha-aminoadipate aminotransferase (AADAT)". Molecular Genetics and Metabolism. 76 (3): 172–80. doi:10.1016/s1096-7192(02)00037-9. PMID 12126930
Mannose 6-phosphate (320 words) [view diff] exact match in snippet view article find links to article
review on its role in lysosomal function and dysfunction". Molecular Genetics and Metabolism. 105 (4). Elsevier: 542–550. doi:10.1016/j.ymgme.2011.12.012
Adrenoleukodystrophy (3,703 words) [view diff] exact match in snippet view article find links to article
Prospective newborn screening for X-linked adrenoleukodystrophy". Molecular Genetics and Metabolism. 105 (3): 416–420. doi:10.1016/j.ymgme.2011.11.195. PMID 22197596
Methylmalonyl-CoA (603 words) [view diff] exact match in snippet view article find links to article
(December 2017). "Propionyl-CoA carboxylase - A review". Molecular Genetics and Metabolism. 122 (4): 145–152. doi:10.1016/j.ymgme.2017.10.002. PMC 5725275
Methylcobalamin (836 words) [view diff] exact match in snippet view article find links to article
mammalian cells: A role for the MMACHC (cblC) gene product". Molecular Genetics and Metabolism. 97 (4): 260–266. doi:10.1016/j.ymgme.2009.04.005. PMC 2709701
3-Hydroxyisobutyryl-CoA deacylase deficiency (165 words) [view diff] exact match in snippet view article find links to article
deficiency that causes Leigh-like disease and ketoacidosis". Molecular Genetics and Metabolism Reports. 1: 455–460. doi:10.1016/j.ymgmr.2014.10.003. PMC 5121361
OPA3 (696 words) [view diff] exact match in snippet view article find links to article
non-Iraqi-Jewish kindred: clinical and molecular findings". Molecular Genetics and Metabolism. 76 (3): 201–206. doi:10.1016/S1096-7192(02)00047-1. PMID 12126933
BioCyc database collection (780 words) [view diff] exact match in snippet view article find links to article
and metabolites implicated in congenital heart defects". Molecular Genetics and Metabolism. 107 (3): 596–604. doi:10.1016/j.ymgme.2012.09.022. PMC 3523122
Aminomethyltransferase (1,436 words) [view diff] exact match in snippet view article find links to article
investigation of patients with nonketotic hyperglycinemia (NKH)". Molecular Genetics and Metabolism. 72 (4): 322–5. doi:10.1006/mgme.2001.3158. PMID 11286506
Zellweger syndrome (1,378 words) [view diff] exact match in snippet view article find links to article
biogenesis disorders in the Zellweger syndrome spectrum". Molecular Genetics and Metabolism. 83 (3): 252–263. doi:10.1016/j.ymgme.2004.08.008. PMID 15542397
Sepiapterin (263 words) [view diff] exact match in snippet view article find links to article
tetrahydrobiopterin deficiencies, in healthy volunteers". Molecular Genetics and Metabolism. 126 (4): 406–412. doi:10.1016/j.ymgme.2019.02.001. ISSN 1096-7192
Rabson–Mendenhall syndrome (1,429 words) [view diff] exact match in snippet view article find links to article
defects and detection of two novel mutations in INSR gene". Molecular Genetics and Metabolism Report. 1: 71–84. doi:10.1016/j.ymgmr.2013.12.006. PMC 5121292
Isoleucine (1,404 words) [view diff] exact match in snippet view article find links to article
2006). "Inborn errors of isoleucine degradation: a review". Molecular Genetics and Metabolism. 89 (4): 289–299. doi:10.1016/j.ymgme.2006.07.010. PMID 16950638
Infantile Refsum disease (866 words) [view diff] exact match in snippet view article find links to article
biogenesis disorders in the Zellweger syndrome spectrum". Molecular Genetics and Metabolism. 83 (3): 252–263. doi:10.1016/j.ymgme.2004.08.008. PMID 15542397
MOCS2 (978 words) [view diff] exact match in snippet view article find links to article
of the small and large subunit of molybdopterin synthase". Molecular Genetics and Metabolism. 89 (3): 210–3. doi:10.1016/j.ymgme.2006.04.008. PMID 16737835
G6PC3 (681 words) [view diff] exact match in snippet view article find links to article
mutations cause non-syndromic severe congenital neutropenia". Molecular Genetics and Metabolism. 108 (2): 138–41. doi:10.1016/j.ymgme.2012.12.001. PMID 23298686
Methylglutaconyl-CoA hydratase (1,415 words) [view diff] exact match in snippet view article find links to article
3-methylglutaconic aciduria type I caused by a novel intragenic deletion". Molecular Genetics and Metabolism. 104 (3): 410–3. doi:10.1016/j.ymgme.2011.07.021. PMID 21840233
SOX13 (1,013 words) [view diff] exact match in snippet view article find links to article
ICA12 autoantigen gene, in families with type 1 diabetes". Molecular Genetics and Metabolism. 72 (4): 356–9. doi:10.1006/mgme.2000.3136. PMID 11286511
PCBD1 (1,069 words) [view diff] exact match in snippet view article find links to article
functional analysis of mutations causing hyperphenylalaninemia". Molecular Genetics and Metabolism. 73 (3): 230–238. doi:10.1006/mgme.2001.3198. PMID 11461190
Occipital horn syndrome (1,397 words) [view diff] exact match in snippet view article find links to article
exhibiting a variable occipital horn syndrome phenotype". Molecular Genetics and Metabolism Reports. 13: 14–17. doi:10.1016/j.ymgmr.2017.07.007. PMC 5522958
Imiglucerase (552 words) [view diff] exact match in snippet view article find links to article
experience of imiglucerase therapy for Gaucher disease". Molecular Genetics and Metabolism. 90 (2): 157–163. doi:10.1016/j.ymgme.2006.09.003. PMID 17079176
Short-chain acyl-coenzyme A dehydrogenase deficiency (709 words) [view diff] exact match in snippet view article find links to article
"Mini-Review: Short-Chain Acyl-Coenzyme A Dehydrogenase Deficiency". Molecular Genetics and Metabolism (Free full text). 95 (4): 195–200. doi:10.1016/j.ymgme.2008
Hyperphenylalaninemia (841 words) [view diff] exact match in snippet view article find links to article
2015). "Cognitive functioning in mild hyperphenylalaninemia". Molecular Genetics and Metabolism Reports. 5: 72–75. doi:10.1016/j.ymgmr.2015.10.009. ISSN 2214-4269
Adenylosuccinate lyase deficiency (1,244 words) [view diff] exact match in snippet view article find links to article
D (September 2006). "Adenylosuccinate lyase deficiency". Molecular Genetics and Metabolism. 89 (1–2): 19–31. doi:10.1016/j.ymgme.2006.04.018. PMID 16839792
Electron-transferring-flavoprotein dehydrogenase (1,315 words) [view diff] exact match in snippet view article find links to article
transfer flavoprotein:ubiquinone oxidoreductase (ETF:QO) gene". Molecular Genetics and Metabolism. 77 (1–2): 86–90. doi:10.1016/S1096-7192(02)00138-5. PMID 12359134
Farber disease (1,403 words) [view diff] exact match in snippet view article find links to article
"Farber disease: Implications of anti-inflammatory treatment". Molecular Genetics and Metabolism. 117 (2): S81–S82. doi:10.1016/j.ymgme.2015.12.364. Ehlert
Carnitine palmitoyltransferase I deficiency (599 words) [view diff] exact match in snippet view article find links to article
type Ia P479L variant in Canadian Aboriginal populations". Molecular Genetics and Metabolism. 96 (4): 201–7. doi:10.1016/j.ymgme.2008.12.018. PMID 19217814
Guanidinoacetate methyltransferase deficiency (1,388 words) [view diff] exact match in snippet view article find links to article
patients with guanidinoacetate methyltransferase deficiency". Molecular Genetics and Metabolism. 134 (1): 60–64. doi:10.1016/j.ymgme.2021.07.012. ISSN 1096-7192
Stuart Mudd (1,147 words) [view diff] exact match in snippet view article find links to article
(2016). "The remarkable S. Harvey Mudd - A reminiscence". Molecular Genetics and Metabolism. 118 (3): 143–144. doi:10.1016/j.ymgme.2016.04.013. PMID 27177696
Sodium benzoate (1,832 words) [view diff] exact match in snippet view article find links to article
(2004). "Problems in the management of urea cycle disorders". Molecular Genetics and Metabolism. 81 (Suppl 1): S86–91. doi:10.1016/j.ymgme.2003.10.016. PMID 15050980
Methylcrotonyl-CoA carboxylase (1,329 words) [view diff] exact match in snippet view article find links to article
screening for 3-methylcrotonyl-CoA carboxylase deficiency". Molecular Genetics and Metabolism. 105 (4): 602–6. doi:10.1016/j.ymgme.2011.12.018. PMID 22264772
Biotinidase deficiency (1,532 words) [view diff] exact match in snippet view article find links to article
analysis to newborn screening for biotinidase deficiency". Molecular Genetics and Metabolism. 78 (2): 100–7. doi:10.1016/S1096-7192(02)00231-7. PMID 12618081
Galactose-1-phosphate uridylyltransferase deficiency (1,282 words) [view diff] exact match in snippet view article find links to article
uridylyltransferase (GALT) and UDP-galactose 4'-epimerase (GALE)". Molecular Genetics and Metabolism. 93 (2): 160–71. doi:10.1016/j.ymgme.2007.09.012. PMC 2253667
Lysosomal cystine transporter family (802 words) [view diff] exact match in snippet view article find links to article
1999). "Mutations of CTNS causing intermediate cystinosis". Molecular Genetics and Metabolism. 67 (4): 283–93. doi:10.1006/mgme.1999.2876. PMID 10444339
Inborn errors of metabolism (1,526 words) [view diff] exact match in snippet view article find links to article
from a screening program in a closed Mexican health system". Molecular Genetics and Metabolism. 121 (1): 16–21. doi:10.1016/j.ymgme.2017.03.001. PMID 28302345
Congenital hypothyroidism (1,711 words) [view diff] exact match in snippet view article find links to article
hypothyroidism in New York State and in the United States". Molecular Genetics and Metabolism. 91 (3): 268–77. doi:10.1016/j.ymgme.2007.03.012. PMID 17512233
ACAD8 (704 words) [view diff] exact match in snippet view article find links to article
isobutyryl-CoA dehydrogenase and its deficiency in humans". Molecular Genetics and Metabolism. 77 (1–2): 68–79. doi:10.1016/S1096-7192(02)00152-X. PMID 12359132
Congenital hypothyroidism (1,711 words) [view diff] exact match in snippet view article find links to article
hypothyroidism in New York State and in the United States". Molecular Genetics and Metabolism. 91 (3): 268–77. doi:10.1016/j.ymgme.2007.03.012. PMID 17512233
Glycogen storage disease type IV (897 words) [view diff] exact match in snippet view article find links to article
glycogen storage disease type IV of Norwegian forest cats". Molecular Genetics and Metabolism. 90 (4): 383–392. doi:10.1016/j.ymgme.2006.12.003. PMC 2063609
Congenital disorder of glycosylation (3,798 words) [view diff] exact match in snippet view article find links to article
disease despite mannose treatment in two patients with CDG-Ib". Molecular Genetics and Metabolism. 93 (1): 40–3. doi:10.1016/j.ymgme.2007.08.126. PMID 17945525
MTRR (gene) (5,274 words) [view diff] exact match in snippet view article
cobalamin (vitamin B12) increases risk for spina bifida". Molecular Genetics and Metabolism. 67 (4): 317–23. doi:10.1006/mgme.1999.2879. PMID 10444342
Norwegian Forest Cat (2,184 words) [view diff] exact match in snippet view article find links to article
glycogen storage disease type IV of Norwegian forest cats". Molecular Genetics and Metabolism. 90 (4): 383–392. doi:10.1016/j.ymgme.2006.12.003. PMC 2063609
RAGE (gene) (967 words) [view diff] exact match in snippet view article
heart disease in African-Brazilians with type 2 diabetes". Molecular Genetics and Metabolism. 85 (2): 149–56. doi:10.1016/j.ymgme.2005.02.010. PMID 15896660
Metab-L (827 words) [view diff] exact match in snippet view article find links to article
with propionic acidemia and fatal cardiomyopathy" (PDF). Molecular Genetics and Metabolism. 85 (4): 286–290. doi:10.1016/j.ymgme.2005.04.004. PMID 15939644
ACAD10 (844 words) [view diff] exact match in snippet view article find links to article
characterization of new long chain acyl-CoA dehydrogenases". Molecular Genetics and Metabolism. 102 (4): 418–29. doi:10.1016/j.ymgme.2010.12.005. PMC 3073726
PEX6 (1,393 words) [view diff] exact match in snippet view article find links to article
diagnosis, clinical manifestations, and treatment guidelines". Molecular Genetics and Metabolism. 117 (3): 313–21. doi:10.1016/j.ymgme.2015.12.009. PMC 5214431
Odd-chain fatty acid (807 words) [view diff] exact match in snippet view article find links to article
(December 2017). "Propionyl-CoA carboxylase - A review". Molecular Genetics and Metabolism. 122 (4): 145–152. doi:10.1016/j.ymgme.2017.10.002. PMC 5725275
Acetoacetyl-CoA (879 words) [view diff] exact match in snippet view article find links to article
controlled by SREBP-2 and affects serum cholesterol levels". Molecular Genetics and Metabolism. 107 (3): 553–560. doi:10.1016/j.ymgme.2012.08.017. ISSN 1096-7192
ACDC (medicine) (571 words) [view diff] exact match in snippet view article
Implications for the role of adenosine in pseudoxanthoma elasticum". Molecular Genetics and Metabolism. 103 (1): 44–50. doi:10.1016/j.ymgme.2011.01.018. PMC 3081917
Ecopipam (1,391 words) [view diff] exact match in snippet view article find links to article
antagonist ecopipam in patients with Lesch-Nyhan disease". Molecular Genetics and Metabolism. 118 (3): 160–166. doi:10.1016/j.ymgme.2016.04.012. PMID 27179999
Undiagnosed Diseases Network (1,153 words) [view diff] exact match in snippet view article find links to article
Diseases Program and Network: Applications to modern medicine". Molecular Genetics and Metabolism. 117 (4): 393–400. doi:10.1016/j.ymgme.2016.01.007. ISSN 1096-7192
PEX1 (1,212 words) [view diff] exact match in snippet view article find links to article
diagnosis, clinical manifestations, and treatment guidelines". Molecular Genetics and Metabolism. 117 (3): 313–321. doi:10.1016/j.ymgme.2015.12.009. PMC 5214431
Elosulfase alfa (522 words) [view diff] exact match in snippet view article find links to article
alfa in Morquio A syndrome in the pivotal phase III trial". Molecular Genetics and Metabolism. 114 (2): 178–85. doi:10.1016/j.ymgme.2014.08.012. PMID 25284089
Systemic primary carnitine deficiency (1,279 words) [view diff] exact match in snippet view article find links to article
with carnitine uptake defects through newborn screening". Molecular Genetics and Metabolism. 100 (1): 46–50. doi:10.1016/j.ymgme.2009.12.015. PMID 20074989
Pyruvate dehydrogenase kinase (1,711 words) [view diff] exact match in snippet view article find links to article
increased lipid oxidation in insulin-resistant subjects". Molecular Genetics and Metabolism. 65 (2): 181–6. doi:10.1006/mgme.1998.2748. PMID 9787110.
ILF3 (1,995 words) [view diff] exact match in snippet view article find links to article
sequences of human acid beta-glucosidase and other mRNAs". Molecular Genetics and Metabolism. 68 (4): 441–54. doi:10.1006/mgme.1999.2934. PMID 10607473
SDHA (2,202 words) [view diff] exact match in snippet view article find links to article
mitochondrial disease caused by a nuclear mutation in complex II". Molecular Genetics and Metabolism. 89 (3): 214–21. doi:10.1016/j.ymgme.2006.05.003. PMID 16798039
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome (441 words) [view diff] exact match in snippet view article find links to article
sequencing in an Asian boy with severe developmental delay". Molecular Genetics and Metabolism Reports. 25: 100686. doi:10.1016/j.ymgmr.2020.100686. PMC 7723794
MEFV (1,128 words) [view diff] exact match in snippet view article find links to article
"Molecular genetic testing for familial Mediterranean fever". Molecular Genetics and Metabolism. 71 (1–2): 256–260. doi:10.1006/mgme.2000.3047. PMID 11001819
Methylmalonic acidemias (4,435 words) [view diff] exact match in snippet view article find links to article
abnormalities in a case of malonyl-CoA decarboxylase deficiency". Molecular Genetics and Metabolism. 87 (2): 102–106. doi:10.1016/j.ymgme.2005.09.009. PMID 16275149
Krabbe disease (2,396 words) [view diff] exact match in snippet view article find links to article
"Psychosine, a marker of Krabbe phenotype and treatment effect". Molecular Genetics and Metabolism. 121 (3): 271–278. doi:10.1016/j.ymgme.2017.05.015. ISSN 1096-7192
Phosphoglucomutase (2,346 words) [view diff] exact match in snippet view article find links to article
breakdown and synthesis in phosphoglucomutase 1 deficiency". Molecular Genetics and Metabolism. 122 (3): 117–121. doi:10.1016/j.ymgme.2017.08.007. PMID 28882528
Ornithine transcarbamylase (2,570 words) [view diff] exact match in snippet view article find links to article
encephalopathy due to urea cycle disorders and organic acidemias". Molecular Genetics and Metabolism. 109 (4): 354–9. doi:10.1016/j.ymgme.2013.05.014. PMID 23791307
ACADL (1,610 words) [view diff] exact match in snippet view article find links to article
cold exposure in acyl-CoA dehydrogenase-deficient mice". Molecular Genetics and Metabolism. 84 (1): 39–47. doi:10.1016/j.ymgme.2004.09.010. PMID 15639194
CSRP3 (4,114 words) [view diff] exact match in snippet view article find links to article
mutations in titin, muscle LIM protein, and telethonin". Molecular Genetics and Metabolism. 88 (1): 78–85. doi:10.1016/j.ymgme.2005.10.008. PMC 2756511
Propionyl-CoA carboxylase (1,718 words) [view diff] exact match in snippet view article find links to article
functional and structural effects of the variant alleles". Molecular Genetics and Metabolism. 83 (1–2): 28–37. doi:10.1016/j.ymgme.2004.08.001. PMID 15464417
Glucose 6-phosphatase (2,486 words) [view diff] exact match in snippet view article find links to article
glucose-6-phosphatase mutations affecting protein stability". Molecular Genetics and Metabolism. 83 (3): 276–9. doi:10.1016/j.ymgme.2004.06.010. PMID 15542400
Desmoglein-2 (2,282 words) [view diff] exact match in snippet view article find links to article
variant in desmoglein-2 predisposes to dilated cardiomyopathy". Molecular Genetics and Metabolism. 95 (1–2): 74–80. doi:10.1016/j.ymgme.2008.06.005. PMID 18678517
ETFDH (1,100 words) [view diff] exact match in snippet view article find links to article
transfer flavoprotein:ubiquinone oxidoreductase (ETF:QO) gene". Molecular Genetics and Metabolism. 77 (1–2): 86–90. doi:10.1016/S1096-7192(02)00138-5. PMID 12359134
Shyamala Gopalan (1,818 words) [view diff] exact match in snippet view article find links to article
Progesterone Receptor and Its Isoforms in Mammary Development". Molecular Genetics and Metabolism. 68 (2): 182–190. doi:10.1006/mgme.1999.2897. PMID 10527668
Glycogen phosphorylase (2,918 words) [view diff] exact match in snippet view article find links to article
hepatic glycogen storage disease and residual enzyme activity". Molecular Genetics and Metabolism. 79 (2): 142–5. doi:10.1016/S1096-7192(03)00068-4. PMID 12809646
Lysosomal storage disease (1,831 words) [view diff] exact match in snippet view article find links to article
from a screening program in a closed Mexican health system". Molecular Genetics and Metabolism. 121 (1): 16–21. doi:10.1016/j.ymgme.2017.03.001. PMID 28302345
RRM2B (1,508 words) [view diff] exact match in snippet view article find links to article
encephalomyopathy, central hypomyelination, and tubulopathy". Molecular Genetics and Metabolism. 98 (3): 300–4. doi:10.1016/j.ymgme.2009.06.012. PMID 19616983
Sengers syndrome (554 words) [view diff] exact match in snippet view article find links to article
variability and clinical outcomes in molecularly confirmed cases". Molecular Genetics and Metabolism. 139 (3): 107626. doi:10.1016/j.ymgme.2023.107626. ISSN 1096-7206
OPHN1 (1,188 words) [view diff] exact match in snippet view article find links to article
"Genes responsible for nonspecific mental retardation". Molecular Genetics and Metabolism. 72 (2): 104–8. doi:10.1006/mgme.2000.3128. PMID 11161835
Farnesoid X receptor (1,945 words) [view diff] exact match in snippet view article find links to article
cholesterol 7alpha-hydroxylase gene repression by bile acids". Molecular Genetics and Metabolism. 71 (4): 609–615. doi:10.1006/mgme.2000.3106. PMID 11136553
NDUFAF6 (796 words) [view diff] exact match in snippet view article find links to article
coupled with mRNA analysis identifies NDUFAF6 as a Leigh gene". Molecular Genetics and Metabolism. 119 (3): 214–222. doi:10.1016/j.ymgme.2016.09.001. ISSN 1096-7192
Medium-chain triglyceride (1,877 words) [view diff] exact match in snippet view article find links to article
promising therapy for adult-onset type II citrullinemia". Molecular Genetics and Metabolism Reports. 1: 42–50. doi:10.1016/j.ymgmr.2013.12.002. PMC 5121258
Sodium phenylbutyrate (1,661 words) [view diff] exact match in snippet view article find links to article
acyl-CoA dehydrogenase in the metabolism of phenylbutyrate". Molecular Genetics and Metabolism. 107 (4): 684–689. doi:10.1016/j.ymgme.2012.10.009. PMC 3504130
Butyrylcholinesterase (2,226 words) [view diff] exact match in snippet view article find links to article
history of prolonged neuromuscular block during anesthesia". Molecular Genetics and Metabolism. 74 (4): 484–488. doi:10.1006/mgme.2001.3251. PMID 11749053
Smith–Lemli–Opitz syndrome (6,560 words) [view diff] exact match in snippet view article find links to article
"3β-Hydroxysterol Δ7-reductase and the Smith–Lemli–Opitz syndrome". Molecular Genetics and Metabolism. 84 (2): 112–26. doi:10.1016/j.ymgme.2004.09.017. PMID 15670717
Pregnanetriolone (452 words) [view diff] exact match in snippet view article find links to article
21-hydroxylase deficiency: The place of urine in neonatal screening". Molecular Genetics and Metabolism Reports. 8: 99–102. doi:10.1016/j.ymgmr.2016.08.006. PMC 4992010
NDUFAF3 (1,065 words) [view diff] exact match in snippet view article find links to article
complex I assembly factor NDUFAF3 cause Leigh syndrome". Molecular Genetics and Metabolism. 120 (3): 243–246. doi:10.1016/j.ymgme.2016.12.005. PMID 27986404
Pulmonary surfactant (medication) (1,064 words) [view diff] exact match in snippet view article
metabolism, and the role of surfactant in health and disease". Molecular Genetics and Metabolism. 97 (2): 95–101. doi:10.1016/j.ymgme.2009.01.015. PMC 2880575
VDAC3 (2,560 words) [view diff] exact match in snippet view article find links to article
gene does not create a truncated protein isoform in vivo". Molecular Genetics and Metabolism. 70 (1): 69–74. doi:10.1006/mgme.2000.2987. PMID 10833333
Pulmonary surfactant (2,661 words) [view diff] exact match in snippet view article find links to article
metabolism, and the role of surfactant in health and disease". Molecular Genetics and Metabolism. 97 (2): 95–101. doi:10.1016/j.ymgme.2009.01.015. ISSN 1096-7192
GTPBP3 (1,049 words) [view diff] exact match in snippet view article find links to article
by mitochondrial RNA modifying enzymes MTO1 and GTPBP3". Molecular Genetics and Metabolism. 83 (3): 199–206. doi:10.1016/j.ymgme.2004.07.009. PMID 15542390
Leigh syndrome (3,180 words) [view diff] exact match in snippet view article find links to article
genetic heterogeneity paves the way for treatment options". Molecular Genetics and Metabolism. 117 (3): 300–312. doi:10.1016/j.ymgme.2015.12.004. ISSN 1096-7192
Propionyl-CoA (2,412 words) [view diff] exact match in snippet view article find links to article
(December 2017). "Propionyl-CoA carboxylase - A review". Molecular Genetics and Metabolism. 122 (4): 145–152. doi:10.1016/j.ymgme.2017.10.002. PMC 5725275
NADH dehydrogenase (ubiquinone), alpha 1 (1,311 words) [view diff] exact match in snippet view article
chromosomal NDUFA1 gene in a girl with complex I deficiency". Molecular Genetics and Metabolism. 103 (4): 358–61. doi:10.1016/j.ymgme.2011.04.010. PMID 21596602
Specialty pharmacy (1,997 words) [view diff] exact match in snippet view article find links to article
experience of imiglucerase therapy for Gaucher disease". Molecular Genetics and Metabolism. 90 (2): 157–63. doi:10.1016/j.ymgme.2006.09.003. PMID 17079176
Medium-chain acyl-coenzyme A dehydrogenase deficiency (1,670 words) [view diff] exact match in snippet view article find links to article
dehydrogenase deficiency identified by newborn screening". Molecular Genetics and Metabolism. 103 (1): 92–95. doi:10.1016/j.ymgme.2011.01.011. PMID 21354840
Alpha-actinin-2 (2,601 words) [view diff] exact match in snippet view article find links to article
in dilated cardiomyopathy and endocardial fibroelastosis". Molecular Genetics and Metabolism. 80 (1–2): 207–15. doi:10.1016/s1096-7192(03)00142-2. PMID 14567970
NGLY1 deficiency (915 words) [view diff] exact match in snippet view article find links to article
for NGLY1-CDDG, a congenital disorder of deglycosylation". Molecular Genetics and Metabolism. 127 (4): 368–372. doi:10.1016/j.ymgme.2019.07.001. ISSN 1096-7192
Mahvash disease (1,089 words) [view diff] exact match in snippet view article find links to article
is identified by newborn screening of elevated arginine". Molecular Genetics and Metabolism Reports. 17: 46–52. doi:10.1016/j.ymgmr.2018.09.006. PMC 6171159
Ellen Heber-Katz (1,539 words) [view diff] exact match in snippet view article find links to article
features of embryonic metabolism in the adult MRL mouse". Molecular Genetics and Metabolism. 96 (3): 133–144. doi:10.1016/j.ymgme.2008.11.164. ISSN 1096-7206
DPAGT1 (1,186 words) [view diff] exact match in snippet view article find links to article
disorder of glycosylation Ic in patients of Indian origin". Molecular Genetics and Metabolism. 79 (3): 221–228. doi:10.1016/S1096-7192(03)00089-1. PMID 12855228
OXCT1 (1,423 words) [view diff] exact match in snippet view article find links to article
succinyl-CoA: 3-Ketoacid CoA transferase (SCOT) deficiency". Molecular Genetics and Metabolism. 89 (3): 280–2. doi:10.1016/j.ymgme.2006.04.014. PMID 16765626
PDLIM3 (1,442 words) [view diff] exact match in snippet view article find links to article
infrequently found in idiopathic dilated cardiomyopathy". Molecular Genetics and Metabolism. 90 (4): 435–40. doi:10.1016/j.ymgme.2006.12.008. PMID 17254821
Abetalipoproteinemia (2,253 words) [view diff] exact match in snippet view article find links to article
population and a contiguous gene deletion in an Arab patient". Molecular Genetics and Metabolism. 90 (4): 453–7. doi:10.1016/j.ymgme.2006.12.010. PMID 17275380
Glycogen storage disease (6,177 words) [view diff] exact match in snippet view article find links to article
breakdown and synthesis in phosphoglucomutase 1 deficiency". Molecular Genetics and Metabolism. 122 (3): 117–121. doi:10.1016/j.ymgme.2017.08.007. PMID 28882528
MMAB (573 words) [view diff] exact match in snippet view article find links to article
methylmalonic acidemia: identification of 21 novel allelic variants". Molecular Genetics and Metabolism. 84 (4): 317–325. doi:10.1016/j.ymgme.2004.11.011. PMID 15781192
Kocher–Debre–Semelaigne syndrome (1,906 words) [view diff] exact match in snippet view article find links to article
(2016-07-01). "Hypothyroidism in late-onset Pompe disease". Molecular Genetics and Metabolism Reports. 8: 24–27. doi:10.1016/j.ymgmr.2016.06.002. ISSN 2214-4269
Cerebellar vermis (2,598 words) [view diff] exact match in snippet view article find links to article
and hindbrain: review and proposed classification scheme". Molecular Genetics and Metabolism. 80 (1–2): 36–53. doi:10.1016/j.ymgme.2003.08.010. PMID 14567956
Pyruvate dehydrogenase complex (3,340 words) [view diff] exact match in snippet view article find links to article
in four families with pyruvate dehydrogenase deficiency". Molecular Genetics and Metabolism. 93 (4): 371–380. doi:10.1016/j.ymgme.2007.10.135. ISSN 1096-7192
Proteolysis (4,247 words) [view diff] exact match in snippet view article find links to article
diseases and the design of therapeutic strategies" (PDF). Molecular Genetics and Metabolism. 77 (1–2): 44–56. doi:10.1016/S1096-7192(02)00146-4. PMID 12359129
Microautophagy (805 words) [view diff] exact match in snippet view article find links to article
disease and their use in studying therapeutic approaches". Molecular Genetics and Metabolism. 96 (4): 208–17. doi:10.1016/j.ymgme.2008.12.012. PMC 2680079
ASPH (1,369 words) [view diff] exact match in snippet view article find links to article
cloning of junctin from human and developing rabbit heart". Molecular Genetics and Metabolism. 69 (3): 252–8. doi:10.1006/mgme.2000.2966. PMID 10767180
AGK (gene) (1,381 words) [view diff] exact match in snippet view article
syndrome caused by acylglycerol kinase (AGK) mutations". Molecular Genetics and Metabolism. 108 (1): 40–50. doi:10.1016/j.ymgme.2012.11.282. PMID 23266196
Acyl-CoA oxidase deficiency (942 words) [view diff] exact match in snippet view article find links to article
with leukodystrophies and genetic leukoencephelopathies". Molecular Genetics and Metabolism. 114 (4): 501–515. doi:10.1016/j.ymgme.2014.12.434. PMC 4390485
ALDH7A1 (1,783 words) [view diff] exact match in snippet view article find links to article
dependent seizures revealed by ALDH7A1 mutational analysis". Molecular Genetics and Metabolism. 91 (4): 384–9. doi:10.1016/j.ymgme.2007.02.010. PMID 17433748
Succinate dehydrogenase (2,942 words) [view diff] exact match in snippet view article find links to article
genetic basis of isolated mitochondrial complex II deficiency". Molecular Genetics and Metabolism. 131 (1–2): 53–65. doi:10.1016/j.ymgme.2020.09.009. PMC 7758838
Methionine synthase (3,437 words) [view diff] exact match in snippet view article find links to article
polymorphisms and increased risks for neural tube defects". Molecular Genetics and Metabolism. 78 (3): 216–221. doi:10.1016/S1096-7192(03)00008-8. PMID 12649067
Pyrimethamine (3,121 words) [view diff] exact match in snippet view article find links to article
β-hexosaminidase A activity in patients with Late Onset Tay Sachs". Molecular Genetics and Metabolism. 102 (3): 356–363. doi:10.1016/j.ymgme.2010.11.163. PMID 21185210
Delayed milestone (3,005 words) [view diff] exact match in snippet view article find links to article
identification of treatable causes and new digital resource". Molecular Genetics and Metabolism. 111 (4): 428–438. doi:10.1016/j.ymgme.2014.01.011. PMID 24518794
Adenylosuccinate lyase (2,387 words) [view diff] exact match in snippet view article find links to article
Patterson D (2006). "Adenylosuccinate lyase deficiency". Molecular Genetics and Metabolism. 89 (1–2): 19–31. doi:10.1016/j.ymgme.2006.04.018. PMID 16839792
Methylenetetrahydrofolate reductase deficiency (1,463 words) [view diff] exact match in snippet view article find links to article
reductase (MTHFR) associated with decreased enzyme activity". Molecular Genetics and Metabolism. 64 (3): 169–72. doi:10.1006/mgme.1998.2714. PMID 9719624
MYOZ2 (1,255 words) [view diff] exact match in snippet view article find links to article
with idiopathic and familial dilated cardiomyopathy" (PDF). Molecular Genetics and Metabolism. 91 (2): 207–8. doi:10.1016/j.ymgme.2007.02.014. PMID 17434779
List of genetic disorders (995 words) [view diff] exact match in snippet view article find links to article
with microcephaly, epilepsy, and cerebral hypomyelination". Molecular Genetics and Metabolism. 125 (1–2): 118–126. doi:10.1016/j.ymgme.2018.06.006. PMC 6557438
Cyanocobalamin (2,663 words) [view diff] exact match in snippet view article find links to article
mammalian cells: A role for the MMACHC (cblC) gene product". Molecular Genetics and Metabolism. 97 (4): 260–266. doi:10.1016/j.ymgme.2009.04.005. PMC 2709701
Alu element (3,083 words) [view diff] exact match in snippet view article find links to article
L; Batzer, Mark A (1999). "Alu Repeats and Human Disease". Molecular Genetics and Metabolism. 67 (3): 183–93. doi:10.1006/mgme.1999.2864. PMID 10381326
NDUFAF1 (1,548 words) [view diff] exact match in snippet view article find links to article
B17.2L and NDUFAF1 in a cohort of CI deficient patients". Molecular Genetics and Metabolism. 91 (2): 176–82. doi:10.1016/j.ymgme.2007.02.007. PMID 17383918
Leukoencephalopathy with vanishing white matter (2,511 words) [view diff] exact match in snippet view article find links to article
leukodystrophy caused by abnormal control of protein synthesis". Molecular Genetics and Metabolism. 88 (1): 7–15. doi:10.1016/j.ymgme.2005.10.019. PMID 16378743
PEGylation (2,986 words) [view diff] exact match in snippet view article find links to article
discovery to enzyme substitution therapy for phenylketonuria". Molecular Genetics and Metabolism. 124 (4): 223–229. doi:10.1016/j.ymgme.2018.06.002. PMID 29941359
Branched-chain amino acid (3,420 words) [view diff] exact match in snippet view article find links to article
damage in an animal model of maple syrup urine disease". Molecular Genetics and Metabolism. 106 (2): 169–174. doi:10.1016/j.ymgme.2012.04.009. PMID 22560665
SPATCCM (790 words) [view diff] exact match in snippet view article find links to article
(July 2016). "Serine biosynthesis and transport defects". Molecular Genetics and Metabolism. 118 (3): 153–159. doi:10.1016/j.ymgme.2016.04.010. PMID 27161889
Mitochondrial complex II deficiency (866 words) [view diff] exact match in snippet view article find links to article
genetic basis of isolated mitochondrial complex II deficiency". Molecular Genetics and Metabolism. 131 (1–2): 53–65. doi:10.1016/j.ymgme.2020.09.009. PMC 7758838
Steroidogenic factor 1 (3,478 words) [view diff] exact match in snippet view article find links to article
function: insight from naturally occurring mutations in humans". Molecular Genetics and Metabolism. 76 (2): 85–91. doi:10.1016/S1096-7192(02)00032-X. PMID 12083805
Calcium-sensing receptor (3,840 words) [view diff] exact match in snippet view article find links to article
1998). "Activating mutations of the Ca2+-sensing receptor". Molecular Genetics and Metabolism. 64 (3): 198–204. doi:10.1006/mgme.1998.2716. PMID 9719629
Hexokinase I (3,083 words) [view diff] exact match in snippet view article find links to article
erythroid-specific promoter, and transcription initiation site". Molecular Genetics and Metabolism. 67 (2): 118–130. doi:10.1006/mgme.1999.2842. PMID 10356311
Pyruvate dehydrogenase (lipoamide) alpha 1 (2,885 words) [view diff] exact match in snippet view article
implications of novel amino acid substitutions in E1 protein". Molecular Genetics and Metabolism. 104 (4): 507–16. doi:10.1016/j.ymgme.2011.08.008. PMID 21914562
Telethonin (3,494 words) [view diff] exact match in snippet view article find links to article
mutations in titin, muscle LIM protein, and telethonin". Molecular Genetics and Metabolism. 88 (1): 78–85. doi:10.1016/j.ymgme.2005.10.008. PMC 2756511
TMEM70 (1,276 words) [view diff] exact match in snippet view article find links to article
(PPHN): a frequent manifestation of TMEM70 defective patients". Molecular Genetics and Metabolism. 111 (3): 353–359. doi:10.1016/j.ymgme.2014.01.001. PMID 24485043
Marshall Summar (1,281 words) [view diff] exact match in snippet view article find links to article
Kirmse, Brian (2013). "The incidence of urea cycle disorders". Molecular Genetics and Metabolism. 110 (1–2): 179–180. doi:10.1016/j.ymgme.2013.07.008. PMC 4364413
Helen Asemota (1,256 words) [view diff] case mismatch in snippet view article find links to article
of Benin and Frankfurt University, where she studied the molecular genetics and metabolism of the browning of yam tubers in storage. Upon moving to Jamaica
BCS1L (1,917 words) [view diff] exact match in snippet view article find links to article
deficiency associated with a novel BCS1L gene mutation". Molecular Genetics and Metabolism. 100 (4): 345–8. doi:10.1016/j.ymgme.2010.04.010. PMID 20472482
Phyllis B. Acosta (708 words) [view diff] exact match in snippet view article find links to article
Acosta Dr.PH, R.D, December 27, 1933 – September 30, 2018". Molecular Genetics and Metabolism. 126 (3): 209. doi:10.1016/j.ymgme.2019.01.003. S2CID 91808005
Acute megakaryoblastic leukemia (4,062 words) [view diff] exact match in snippet view article find links to article
2012). "Acute leukemias in children with Down syndrome". Molecular Genetics and Metabolism. 107 (1–2): 25–30. doi:10.1016/j.ymgme.2012.07.011. PMID 22867885
NDUFS4 (2,037 words) [view diff] exact match in snippet view article find links to article
cause Leigh syndrome with predominant brainstem involvement". Molecular Genetics and Metabolism. 97 (3): 185–9. doi:10.1016/j.ymgme.2009.03.002. PMID 19364667
Gaucher's disease (3,308 words) [view diff] exact match in snippet view article find links to article
sphingolipid accumulation in a macrophage model of Gaucher disease". Molecular Genetics and Metabolism. 92 (4): 336–45. doi:10.1016/j.ymgme.2007.08.001. PMID 17881272
Tafazzin (6,767 words) [view diff] exact match in snippet view article find links to article
et al. (May 2012). "Barth syndrome in a female patient". Molecular Genetics and Metabolism. 106 (1): 115–20. doi:10.1016/j.ymgme.2012.01.015. PMID 22410210
Noncompaction cardiomyopathy (2,386 words) [view diff] exact match in snippet view article find links to article
family with left ventricular noncompaction and sudden death". Molecular Genetics and Metabolism. 102 (2): 200–206. doi:10.1016/j.ymgme.2010.09.009. ISSN 1096-7206
HSD17B10 (1,930 words) [view diff] exact match in snippet view article find links to article
through metabolism of isoleucine and neuroactive steroids". Molecular Genetics and Metabolism. 92 (1–2): 36–42. doi:10.1016/j.ymgme.2007.06.001. PMID 17618155
Mathematical optimization (6,003 words) [view diff] exact match in snippet view article find links to article
affected respiratory chain complex in Leigh's syndrome". Molecular Genetics and Metabolism. 91 (1): 15–22. doi:10.1016/j.ymgme.2007.01.012. ISSN 1096-7192
Fabry disease (3,891 words) [view diff] exact match in snippet view article find links to article
consensus statement on therapeutic goals in Fabry disease". Molecular Genetics and Metabolism. 124 (3): 189–203. doi:10.1016/j.ymgme.2018.06.004. PMID 30017653
Harvey Levy (academic) (1,025 words) [view diff] exact match in snippet view article
Discovery to Enzyme Substitution Therapy for Phenylketonuria. Molecular Genetics and Metabolism 2018;124:223-229. "Harvey Levy, MD". Archived from the original
Friedreich's ataxia (4,942 words) [view diff] exact match in snippet view article find links to article
treatment of inherited mitochondrial disease with EPI-743". Molecular Genetics and Metabolism. 105 (1): 91–102. doi:10.1016/j.ymgme.2011.10.009. PMID 22115768
Carnitine palmitoyltransferase II deficiency (3,163 words) [view diff] exact match in snippet view article find links to article
resulting in carnitine palmitoyltransferase II deficiency". Molecular Genetics and Metabolism. 89 (4): 323–31. doi:10.1016/j.ymgme.2006.08.004. PMID 16996287
Convallatoxin (2,314 words) [view diff] exact match in snippet view article find links to article
of colorectal cancer cells in a p53-independent manner". Molecular Genetics and Metabolism Reports. 13: 42–45. doi:10.1016/j.ymgmr.2017.07.011. PMC 5548364
Leukemia (8,161 words) [view diff] exact match in snippet view article find links to article
2012). "Acute leukemias in children with Down syndrome". Molecular Genetics and Metabolism. 107 (1–2): 25–30. doi:10.1016/j.ymgme.2012.07.011. PMID 22867885
Asprosin (2,349 words) [view diff] exact match in snippet view article find links to article
phenotype in Marfan syndrome and related conditions". primary. Molecular Genetics and Metabolism. 119 (1–2): 174–185. doi:10.1016/j.ymgme.2016.06.009. PMC 5044862
Protein O-GlcNAcase (2,189 words) [view diff] exact match in snippet view article find links to article
candidate gene for type 2 diabetes mellitus in Pima Indians". Molecular Genetics and Metabolism. 77 (1–2): 189–93. doi:10.1016/S1096-7192(02)00127-0. PMID 12359146
Gene targeting (4,410 words) [view diff] exact match in snippet view article find links to article
(October 1999). "Gene targeting for gene therapy: prospects". Molecular Genetics and Metabolism. 68 (2): 276–282. doi:10.1006/mgme.1999.2910. PMID 10527679
List of recombinant proteins (2,322 words) [view diff] exact match in snippet view article find links to article
recombinant lysosomal enzymes produced in microorganisms". Molecular Genetics and Metabolism. 116 (1–2): 13–23. doi:10.1016/j.ymgme.2015.06.001. PMID 26071627
Maple syrup urine disease (5,497 words) [view diff] exact match in snippet view article find links to article
urine disease: an evidence- and consensus-based approach". Molecular Genetics and Metabolism. 112 (3): 210–217. doi:10.1016/j.ymgme.2014.05.006. PMID 24881969
Α-Ketoisocaproic acid (1,573 words) [view diff] exact match in snippet view article find links to article
development: Principles of management and formula design". Molecular Genetics and Metabolism. 99 (4): 333–345. doi:10.1016/j.ymgme.2009.12.007. PMC 3671925
SURF1 (2,402 words) [view diff] exact match in snippet view article find links to article
cytochrome c oxidase-deficient leigh syndrome and hypertrichosis". Molecular Genetics and Metabolism. 73 (4): 340–3. doi:10.1006/mgme.2001.3206. PMID 11509016
Lysine (7,547 words) [view diff] exact match in snippet view article find links to article
gene encoding alpha-aminoadipate aminotransferase (AADAT)". Molecular Genetics and Metabolism. 76 (3): 172–180. doi:10.1016/s1096-7192(02)00037-9. PMID 12126930
SCARB2 (2,546 words) [view diff] exact match in snippet view article find links to article
membrane protein-2: a new player in lysosome-related pathology". Molecular Genetics and Metabolism. 111 (2): 84–91. doi:10.1016/j.ymgme.2013.12.005. PMC 3924958
Hereditary folate malabsorption (2,754 words) [view diff] exact match in snippet view article find links to article
cerebrospinal fluid 5-MTHF, biopterin and neopterin concentrations". Molecular Genetics and Metabolism. 95 (3): 127–32. doi:10.1016/j.ymgme.2008.07.004. PMID 18722797
Single-nucleotide polymorphism (6,240 words) [view diff] exact match in snippet view article find links to article
mutation analysis and haplotype associations in CF patients". Molecular Genetics and Metabolism. 105 (2): 249–54. doi:10.1016/j.ymgme.2011.10.013. PMC 3551260
Lipoprotein(a) (5,343 words) [view diff] exact match in snippet view article
the apo(a) promoter of individuals with low Lp(a) levels". Molecular Genetics and Metabolism. 69 (2): 165–7. doi:10.1006/mgme.1999.2956. PMID 10720444
Myelodysplastic syndrome (6,719 words) [view diff] exact match in snippet view article find links to article
2012). "Acute leukemias in children with Down syndrome". Molecular Genetics and Metabolism. 107 (1–2): 25–30. doi:10.1016/j.ymgme.2012.07.011. PMID 22867885
Hoffmann syndrome (1,259 words) [view diff] exact match in snippet view article find links to article
(September 2016). "Hypothyroidism in late-onset Pompe disease". Molecular Genetics and Metabolism Reports. 8: 24–27. doi:10.1016/j.ymgmr.2016.06.002. ISSN 2214-4269
Brain mitochondrial carrier protein 1 (1,733 words) [view diff] exact match in snippet view article find links to article
isoform with lipid oxidation and resting metabolic rates". Molecular Genetics and Metabolism. 75 (4): 369–373. doi:10.1016/S1096-7192(02)00008-2. PMID 12051969
Robert K. Naviaux (1,388 words) [view diff] exact match in snippet view article find links to article
features of embryonic metabolism in the adult MRL mouse". Molecular Genetics and Metabolism. 96 (3): 133–144. doi:10.1016/j.ymgme.2008.11.164. ISSN 1096-7192
1-Deoxysphingolipids (2,298 words) [view diff] exact match in snippet view article find links to article
glycogen storage disease type I - A link to metabolic control". Molecular Genetics and Metabolism. 125 (1–2): 73–78. doi:10.1016/j.ymgme.2018.07.003. ISSN 1096-7206
Glycogen storage disease type II (4,291 words) [view diff] exact match in snippet view article find links to article
disease treated in the symptomatic or pre-symptomatic state". Molecular Genetics and Metabolism Reports. 9: 98–105. doi:10.1016/j.ymgmr.2016.11.001. PMC 5121151
Adipose tissue (8,510 words) [view diff] exact match in snippet view article find links to article
of the leptin gene (N103K) in an obese Egyptian patient". Molecular Genetics and Metabolism. 97 (4): 305–308. doi:10.1016/j.ymgme.2009.04.002. PMID 19427251
Enzyme (9,821 words) [view diff] exact match in snippet view article find links to article
(October 1999). "The structural basis of phenylketonuria". Molecular Genetics and Metabolism. 68 (2): 103–125. doi:10.1006/mgme.1999.2922. PMID 10527663
Fatty acid metabolism (5,561 words) [view diff] exact match in snippet view article find links to article
(December 2017). "Propionyl-CoA carboxylase - A review". Molecular Genetics and Metabolism. 122 (4): 145–152. doi:10.1016/j.ymgme.2017.10.002. PMC 5725275
GATA1 (5,512 words) [view diff] exact match in snippet view article find links to article
2012). "Acute leukemias in children with Down syndrome". Molecular Genetics and Metabolism. 107 (1–2): 25–30. doi:10.1016/j.ymgme.2012.07.011. PMID 22867885
Neural tube defect (5,814 words) [view diff] exact match in snippet view article find links to article
Rosenblatt, D. S. (2009). "Vitamin B-12 and birth defects". Molecular Genetics and Metabolism. 98 (1–2): 166–72. doi:10.1016/j.ymgme.2009.06.004. PMID 19586788
Protein toxicity (3,588 words) [view diff] exact match in snippet view article find links to article
Kirmse B (2013). "The incidence of urea cycle disorders". Molecular Genetics and Metabolism. 110 (1–2): 179–80. doi:10.1016/j.ymgme.2013.07.008. PMC 4364413
Inborn errors of carbohydrate metabolism (2,814 words) [view diff] exact match in snippet view article find links to article
breakdown and synthesis in phosphoglucomutase 1 deficiency". Molecular Genetics and Metabolism. 122 (3): 117–121. doi:10.1016/j.ymgme.2017.08.007. PMID 28882528
CREB-binding protein (5,272 words) [view diff] exact match in snippet view article find links to article
acetyltransferase activity in hematologic malignancies". Molecular Genetics and Metabolism. 119 (1–2): 37–43. doi:10.1016/j.ymgme.2016.06.013. PMID 27380996
History of Central Africa (5,912 words) [view diff] exact match in snippet view article find links to article
severe under-expression of the growth hormone receptor". Molecular Genetics and Metabolism. 98 (3): 310–313. doi:10.1016/j.ymgme.2009.05.009. PMID 19541519
Adenosine monophosphate deaminase deficiency type 1 (4,691 words) [view diff] exact match in snippet view article find links to article
Multiple Partial Defects in One or More Metabolic Pathways". Molecular Genetics and Metabolism. 71 (1–2): 10–8. doi:10.1006/mgme.2000.3066. PMID 11001791
Aspergillus carneus (2,958 words) [view diff] exact match in snippet view article find links to article
gamma-lyase: Clinical, metabolic, genetic, and structural studies". Molecular Genetics and Metabolism. 97 (4): 250–259. doi:10.1016/j.ymgme.2009.04.001. OCLC 1085418352
Oxysterol-binding protein (2,071 words) [view diff] exact match in snippet view article find links to article
intellectually disabled using discrete event simulation". Molecular Genetics and Metabolism. 114 (2): 226–32. doi:10.1016/j.ymgme.2014.07.004. PMID 25095726
Metabolic myopathy (5,290 words) [view diff] exact match in snippet view article find links to article
breakdown and synthesis in phosphoglucomutase 1 deficiency". Molecular Genetics and Metabolism. 122 (3): 117–121. doi:10.1016/j.ymgme.2017.08.007. ISSN 1096-7192
Sulfatide (5,620 words) [view diff] exact match in snippet view article find links to article
Using Electrospray Ionization-Tandem Mass Spectrometry". Molecular Genetics and Metabolism. 73 (1): 30–37. doi:10.1006/mgme.2001.3165. PMID 11350180
Niemann–Pick disease type C (4,943 words) [view diff] exact match in snippet view article find links to article
Support Group Websites to Understand Natural History - PMC". Molecular Genetics and Metabolism. 126 (4): 466–469. doi:10.1016/j.ymgme.2019.02.004. PMC 6535124
Cobalamin biosynthesis (3,654 words) [view diff] exact match in snippet view article find links to article
mammalian cells: A role for the MMACHC (CBLC) gene product". Molecular Genetics and Metabolism. 97 (4): 260–266. doi:10.1016/j.ymgme.2009.04.005. PMC 2709701
Astrocyte (9,356 words) [view diff] exact match in snippet view article find links to article
dehydrogenase leads to mitochondrial fission and oxidative stress". Molecular Genetics and Metabolism. 100 (2): 155–62. doi:10.1016/j.ymgme.2010.03.009. PMID 20371198
Salt and pepper syndrome (2,378 words) [view diff] exact match in snippet view article find links to article
Natural history, biochemistry, and therapeutic frontier". Molecular Genetics and Metabolism. 126 (4): 475–488. doi:10.1016/j.ymgme.2019.01.013. PMID 30691927
Down syndrome (14,788 words) [view diff] exact match in snippet view article find links to article
2012). "Acute leukemias in children with Down syndrome". Molecular Genetics and Metabolism. 107 (1–2): 25–30. doi:10.1016/j.ymgme.2012.07.011. PMID 22867885
Neonatal seizure (4,791 words) [view diff] exact match in snippet view article find links to article
monogenic causes of seizures in neonates and young infants". Molecular Genetics and Metabolism. 104 (3): 214–30. doi:10.1016/j.ymgme.2011.04.020. PMID 21839663
Second wind (3,271 words) [view diff] exact match in snippet view article find links to article
breakdown and synthesis in phosphoglucomutase 1 deficiency". Molecular Genetics and Metabolism. 122 (3): 117–121. doi:10.1016/j.ymgme.2017.08.007. PMID 28882528
Pathway analysis (2,906 words) [view diff] exact match in snippet view article find links to article
"Pathway analysis software: annotation errors and solutions". Molecular Genetics and Metabolism. 101 (2–3): 134–40. doi:10.1016/j.ymgme.2010.06.005. PMC 2950253
Dark skin (8,506 words) [view diff] exact match in snippet view article find links to article
biochemistry, molecular biology, and role in disease processes". Molecular Genetics and Metabolism. 71 (1–2): 121–138. doi:10.1006/mgme.2000.3027. PMID 11001804
Ataxia–telangiectasia (10,515 words) [view diff] exact match in snippet view article find links to article
immunoblotting of nuclear lysates for ATM protein expression". Molecular Genetics and Metabolism. 80 (4): 437–43. doi:10.1016/j.ymgme.2003.09.008. PMID 14654357
20-Hydroxyeicosatetraenoic acid (8,942 words) [view diff] exact match in snippet view article find links to article
gene associated with myocardial infarction in Japanese men". Molecular Genetics and Metabolism. 96 (3): 145–7. doi:10.1016/j.ymgme.2008.11.161. PMID 19097922
DNA sequencing (14,925 words) [view diff] exact match in snippet view article find links to article
"A glimpse into past, present, and future DNA sequencing". Molecular Genetics and Metabolism. 110 (1–2): 3–24. doi:10.1016/j.ymgme.2013.04.024. PMID 23742747
Genetic history of Central Africa (1,690 words) [view diff] exact match in snippet view article find links to article
severe under-expression of the growth hormone receptor". Molecular Genetics and Metabolism. 98 (3): 310–313. doi:10.1016/j.ymgme.2009.05.009. PMID 19541519
Artificial cell (8,342 words) [view diff] exact match in snippet view article find links to article
transcarbamylase deficient patient following adenoviral gene transfer". Molecular Genetics and Metabolism. 80 (1–2): 148–158. doi:10.1016/j.ymgme.2003.08.016. PMID 14567964
MicroRNA (16,818 words) [view diff] exact match in snippet view article find links to article
prediction that miR-103/107 regulates human metabolic pathways". Molecular Genetics and Metabolism. 91 (3): 209–17. doi:10.1016/j.ymgme.2007.03.011. PMC 1978064
Newborn screening (7,844 words) [view diff] exact match in snippet view article find links to article
ranging from sudden neonatal death to asymptomatic status". Molecular Genetics and Metabolism. 82 (2): 121–129. doi:10.1016/j.ymgme.2004.03.002. PMID 15171999
High-altitude adaptation in humans (5,651 words) [view diff] exact match in snippet view article find links to article
into mechanisms of high-altitude adaptation in Tibetans". Molecular Genetics and Metabolism. 106 (2): 244–247. doi:10.1016/j.ymgme.2012.03.003. PMC 3437309
Bruce Beutler (12,093 words) [view diff] exact match in snippet view article find links to article
diseases: natural history and ethical and economic aspects". Molecular Genetics and Metabolism. 88 (3): 208–215. doi:10.1016/j.ymgme.2006.01.010. ISSN 1096-7192
Gene therapy (18,426 words) [view diff] exact match in snippet view article find links to article
transcarbamylase deficient patient following adenoviral gene transfer". Molecular Genetics and Metabolism. 80 (1–2): 148–58. doi:10.1016/j.ymgme.2003.08.016. PMID 14567964
Spongy degeneration of the central nervous system (3,567 words) [view diff] exact match in snippet view article find links to article
disease: a monogenic trait with complex genomic interaction". Molecular Genetics and Metabolism. 80 (1–2): 74–80. doi:10.1016/j.ymgme.2003.08.015. PMID 14567959
Inflammatory demyelinating diseases of the central nervous system (11,718 words) [view diff] exact match in snippet view article find links to article
relapsing-remitting multiple sclerosis using whole exome sequencing". Molecular Genetics and Metabolism Reports. 19: 100465. doi:10.1016/j.ymgmr.2019.100465. PMC 6434495
Henri Termeer (5,103 words) [view diff] exact match in snippet view article find links to article
experience of imiglucerase therapy for Gaucher disease". Molecular Genetics and Metabolism. 90 (2): 157–63. doi:10.1016/j.ymgme.2006.09.003. PMID 17079176
Transient myeloproliferative disease (4,660 words) [view diff] exact match in snippet view article find links to article
2012). "Acute leukemias in children with Down syndrome". Molecular Genetics and Metabolism. 107 (1–2): 25–30. doi:10.1016/j.ymgme.2012.07.011. PMID 22867885
List of biochemists (10,823 words) [view diff] case mismatch in snippet view article find links to article
the University of the West Indies, Jamaica, who studied the molecular genetics and metabolism of the browning of yam tubers in storage. Gilbert Ashwell
Genetic history of Africa (16,178 words) [view diff] exact match in snippet view article find links to article
severe under-expression of the growth hormone receptor". Molecular Genetics and Metabolism. 98 (3): 310–313. doi:10.1016/j.ymgme.2009.05.009. PMID 19541519
Facioscapulohumeral muscular dystrophy (16,456 words) [view diff] exact match in snippet view article find links to article
subtelomeric repeat in normal and FSHD cell cultures and tissues". Molecular Genetics and Metabolism. 74 (3): 322–331. doi:10.1006/mgme.2001.3219. PMID 11708861
Kidney ischemia (4,566 words) [view diff] exact match in snippet view article find links to article
pathogenesis, biomarker discovery, and novel therapeutics". Molecular Genetics and Metabolism. 80 (4): 365–376. doi:10.1016/j.ymgme.2003.09.012. ISSN 1096-7192
Epigenetics of human development (6,147 words) [view diff] exact match in snippet view article find links to article
SC, Innis JW (January 2014). "Human HOX gene disorders". Molecular Genetics and Metabolism. 111 (1): 4–15. doi:10.1016/j.ymgme.2013.10.012. PMID 24239177
Epitranscriptome (7,732 words) [view diff] exact match in snippet view article find links to article
"Queuosine modification of tRNA: a case for convergent evolution". Molecular Genetics and Metabolism. 74 (1–2): 147–59. doi:10.1006/mgme.2001.3216. PMID 11592812
Titles of distinction awarded by the University of Oxford (17,678 words) [view diff] exact match in snippet view article find links to article
Giustino, Professor of Materials Anna Gloyn, Professor of Molecular Genetics and Metabolism Sion Glyn-Jones, Professor of Orthopaedic Surgery Andrew Goodwin