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searching for Homocystinuria 15 found (84 total)

MMACHC (1,096 words) [view diff] exact match in snippet view article find links to article

Methylmalonic aciduria and homocystinuria type C protein (MMACHC) is a protein that in humans is encoded by the MMACHC gene. The C-terminal region of the

MMADHC (477 words) [view diff] exact match in snippet view article find links to article

Methylmalonic aciduria and homocystinuria type D protein, mitochondrial also known as MMADHC is a protein that in humans is encoded by the MMADHC gene

MTRR (gene) (5,274 words) [view diff] exact match in snippet view article

associated with CblE type of homocystinuria. (MTRR):c.1953-6_1953-2del5 – Novel mutation associated with CblE type of homocystinuria. Unstable mRNA arising

(Methionine synthase) reductase (528 words) [view diff] exact match in snippet view article

methionine synthase reductase, a flavoprotein defective in patients with homocystinuria". Proceedings of the National Academy of Sciences. 95 (6): 3059–3064

List of diseases (M) (2,469 words) [view diff] exact match in snippet view article

acidemia with homocystinuria Methylmalonic acidemia Methylmalonic aciduria microcephaly cataract Methylmalonicacidemia with homocystinuria, cbl D Methylmalonicaciduria

Ruma Banerjee (342 words) [view diff] exact match in snippet view article find links to article

organometallic cofactor between proteins, and how mutations described in homocystinuria and methylmalonic aciduria patients, dysregulate this pathway. Since

Neonatal heel prick (1,046 words) [view diff] exact match in snippet view article find links to article

hypothyroidism and hence prevent cretinism. Isovaleric acidemia (IVA) Homocystinuria (pyridoxine unresponsive) (HCU) 17-hydroxy-progesterone (17-OHP) to

Methylenetetrahydrofolate reductase (3,743 words) [view diff] exact match in snippet view article find links to article

the methylenetetrahydrofolate reductase (MTHFR) gene in patients with homocystinuria". Human Mutation. 15 (3): 280–7. doi:10.1002/(SICI)1098-1004(200003

List of OMIM disorder codes (18,877 words) [view diff] exact match in snippet view article find links to article

142900; TBX5 Homocystinuria due to MTHFR deficiency; 236250; MTHFR Homocystinuria, B6-responsive and nonresponsive types; 236200; CBS Homocystinuria, cblD type

Stroke (20,647 words) [view diff] exact match in snippet view article find links to article

an abnormal tendency to bleed, and if some rarer processes such as homocystinuria might be involved. For hemorrhagic stroke, a CT or MRI scan with intravascular

Akhenaten (15,817 words) [view diff] exact match in snippet view article find links to article

Vlatka; Bušić, Željko; Olujić, Boris; Brkljačić, Boris (March 2010). "Homocystinuria, a possible solution of the Akhenaten's mystery". Collegium Antropologicum

Cobalamin biosynthesis (3,654 words) [view diff] exact match in snippet view article find links to article

the coenzyme forms in which they are used. Methylmalonic aciduria and homocystinuria type C protein is the enzyme which catalyzes the decyanation of cyanocobalamin

List of lay Catholic scientists (4,579 words) [view diff] exact match in snippet view article find links to article

of Fanconi syndrome, Hartnup disease, argininosuccinic aciduria and homocystinuria César-Mansuète Despretz (1791–1863) – chemist and physicist who investigated

Eric Arnott (2,676 words) [view diff] exact match in snippet view article find links to article

(ASCRS) Publications • 1964 B.J.O. Vol. 48 E J Arnott; Ocular movement in homocystinuria • 1977 Trans.ophthal.Soc. U.K. (1977) 97,60. E J Arnott; Kelman phacoemulsification

Pratibha Singhi (2,262 words) [view diff] exact match in snippet view article find links to article

Saini AG, Padmanabha H, Attri S, Singhi P. Malar rash in classical homocystinuria. BMJ Case Rep. 2017 May 3;2017:bcr2017220296. doi: 10.1136/bcr-2017-220296