Two "new" treatable inherited biosynthetic disorders.
Walter
J H
JH
Willink Biochemical Genetics Unit, Royal Manchester Children's Hospital, UK.
D002237:Carbohydrate Dehydrogenases / Q000172:deficiency*; D003401:Creatine / Q000096:biosynthesis; D006801:Humans; D007223:Infant; D008297:Male; D008661:Metabolism, Inborn Errors / Q000628:therapy*; D050543:Phosphoglycerate Dehydrogenase; D012694:Serine / Q000096:biosynthesis
D012694:Serine; D002237:Carbohydrate Dehydrogenases; D050543:Phosphoglycerate Dehydrogenase; D003401:Creatine