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Creatine metabolism in combined methylmalonic aciduria and homocystinuria disease revisited

✍ Scribed by Daria Younessi; Kathryn Moseley; Shoji Yano


Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
51 KB
Volume
65
Category
Article
ISSN
0364-5134

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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