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Late-onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance

✍ Scribed by Anne Chun-Hui Tsai; Chantal F. Morel; Gunter Scharer; Michael Yang; Jordan P. Lerner-Ellis; David S. Rosenblatt; Janet A. Thomas


Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
130 KB
Volume
143A
Category
Article
ISSN
1552-4825

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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