3-Phosphoglycerate dehydrogenase deficiency and 3-phosphoserine phosphatase deficiency: inborn errors of serine biosynthesis.
Jaeken
J
J
Department of Paediatrics, University of Leuven, Belgium.
Detheux
M
M
Van Maldergem
L
L
Frijns
J P
JP
Alliet
P
P
Foulon
M
M
Carchon
H
H
Van Schaftingen
E
E
D000592:Amino Acid Metabolism, Inborn Errors / Q000201:enzymology* / Q000235:genetics; D001927:Brain Diseases / Q000201:enzymology; D002237:Carbohydrate Dehydrogenases / Q000172:deficiency*; D002648:Child; D002897:Chromosomes, Human, Pair 7; D003241:Consanguinity; D006801:Humans; D007223:Infant; D008297:Male; D050543:Phosphoglycerate Dehydrogenase; D010744:Phosphoric Monoester Hydrolases / Q000172:deficiency* / Q000235:genetics; D012694:Serine / Q000096:biosynthesis* / Q000134:cerebrospinal fluid
D012694:Serine; D002237:Carbohydrate Dehydrogenases; D050543:Phosphoglycerate Dehydrogenase; D010744:Phosphoric Monoester Hydrolases; C022394:phosphoserine phosphatase