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searching for Zellweger syndrome 14 found (69 total)

alternate case: zellweger syndrome

PEX16 (774 words) [view diff] exact match in snippet view article find links to article

nonsense mutation localized to this gene was observed in a patient with Zellweger syndrome of the complementation group CGD/CG9. Expression of this gene product
PEX3 (1,117 words) [view diff] exact match in snippet view article find links to article
peroxisome membrane synthesis due to mutations in human PEX3 causes Zellweger syndrome, complementation group G". American Journal of Human Genetics. 67
PEX19 (1,270 words) [view diff] exact match in snippet view article find links to article
by functional complementation, mutation analysis in a patient with Zellweger syndrome, and potential role in peroxisomal membrane assembly". Proc Natl Acad
PEX12 (1,168 words) [view diff] exact match in snippet view article find links to article
N, Fujiki Y (July 1998). "PEX12, the pathogenic gene of group III Zellweger syndrome: cDNA cloning by functional complementation on a CHO cell mutant,
PEX26 (785 words) [view diff] case mismatch in snippet view article find links to article
entry on Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum OMIM entries on Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum v t e
PEX13 (1,069 words) [view diff] case mismatch in snippet view article find links to article
entry on Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum OMIM entries on Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum v t e
HSD17B4 (1,374 words) [view diff] exact match in snippet view article find links to article
and D-3-hydroxyacyl-coenzyme A dehydrogenase/hydratase involved in Zellweger syndrome". Journal of Molecular Endocrinology. 22 (3): 227–40. doi:10.1677/jme
Nervonic acid (669 words) [view diff] exact match in snippet view article find links to article
beta-oxidation in human and rodent peroxisomes: Impaired oxidation in Zellweger syndrome and X-linked adrenoleukodystrophy" (PDF). Journal of Lipid Research
Piet Borst (3,526 words) [view diff] exact match in snippet view article find links to article
molecules of several protozoa (20) (21). The first prenatal test for the Zellweger syndrome, a deadly inborn error of peroxisome biosynthesis (22). Protective
Chromosome 3 (1,991 words) [view diff] exact match in snippet view article find links to article
acidemia Protein S deficiency Pseudocholinesterase deficiency Pseudo-Zellweger syndrome Retinitis pigmentosa Romano–Ward syndrome Seckel syndrome Sensenbrenner
Phytanoyl-CoA dioxygenase (712 words) [view diff] exact match in snippet view article find links to article
present in human liver, located in peroxisomes, and deficient in Zellweger syndrome: direct, unequivocal evidence for the new, revised pathway of phytanic
Constitutive androstane receptor (2,238 words) [view diff] exact match in snippet view article find links to article
the human peroxisome assembly factor-1 gene (PXMP3) responsible for Zellweger syndrome to chromosome 8q21.1 by fluorescence in situ hybridization". Genomics
List of diseases (P) (1,908 words) [view diff] exact match in snippet view article
Pseudoxanthoma elasticum, recessive form Pseudoxanthoma elasticum Pseudo-Zellweger syndrome Psittacosis Psoriasis Psoriatic arthritis Psoriatic rheumatism Psychogenic
Microcephaly (4,286 words) [view diff] exact match in snippet view article find links to article
2019-08-01. "Mito Info". Mito Foundation. Retrieved 2019-08-01. "Zellweger syndrome". Orphanet. Retrieved 2019-08-01. Reference, Genetics Home. "GLUT1