Leukocyte phosphomannomutase activity in diagnosis of congenital disorder of glycosylation Ia.
Barnier
Anne
A
Laboratoire de Biochimie A, Hôpital Bichat, AP-HP, 75877 Paris Cedex 18, France.
Dupré
Thierry
T
Cuer
Maryvonne
M
Vuillaumier-Barrot
Sandrine
S
Durand
Geneviève
G
Seta
Nathalie
N
D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D002675:Child, Preschool; D004796:Clinical Enzyme Tests; D018981:Congenital Disorders of Glycosylation / Q000175:diagnosis*; D006031:Glycosylation; D006801:Humans; D007223:Infant; D007962:Leukocytes / Q000201:enzymology*; D008875:Middle Aged; D009154:Mutation; D017875:Phosphotransferases (Phosphomutases) / Q000097:blood* / Q000235:genetics; D012016:Reference Values
D017875:Phosphotransferases (Phosphomutases); C052799:phosphomannomutase