Creatine metabolism in combined methylmalonic aciduria and homocystinuria
✍ Scribed by Olaf A. Bodamer; Trilochan Sahoo; Arthur L. Beaudet; William E. O'Brien; Teodoro Bottiglieri; Sylvia Stöckler-Ipsiroglu; Conrad Wagner; Fernando Scaglia
- Publisher
- John Wiley and Sons
- Year
- 2005
- Tongue
- English
- Weight
- 78 KB
- Volume
- 57
- Category
- Article
- ISSN
- 0364-5134
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
Prenatal diagnosis for combined methylmalonic aciduria and homocystinuria was performed in five at-risk pregnancies by determination of methylmalonic acid (MMA) and total homocysteine (Hcy) in amniotic fluid supernatant. The incorporation rate of [ 14 C] propionate ( OHCbl) and the synthesis of coba
Methylmalonic aciduria (MMA) is an autosomal recessive inborn error of metabolism that results from functional defects in methylmalonyl CoA mutase (MCM), a nuclear-encoded, mitochondrial enzyme that uses the vitamin B 12 derivative, adenosylcobalamin (AdoCbl) as a cofactor. To date, 23 mutations hav