Unreliable verification of prenatal diagnosis of Canavan disease: aspartoacylase activity in deficient and normal fetal skin fibroblasts.
Rolland
M O
MO
Centre d'Etude des Maladies Métaboliques, Hôpital Debrousse, Lyon, France.
Mandon
G
G
Bernard
A
A
Zabot
M T
MT
Mathieu
M
M
D000581:Amidohydrolases / Q000172:deficiency / Q000378:metabolism*; D017825:Canavan Disease / Q000201:enzymology*; D005333:Fetus / Q000201:enzymology; D005347:Fibroblasts / Q000201:enzymology*; D006801:Humans; D011296:Prenatal Diagnosis; D012867:Skin / Q000196:embryology / Q000201:enzymology
D000581:Amidohydrolases; C019751:aspartoacylase