Second trimester prenatal diagnosis of Sanfilippo syndrome type C.
Maire
I
I
Centre d'Etude des Maladies Métaboliques, Hôpital Debrousse, Lyon, France.
Epelbaum
S
S
Piraud
M
M
Mandon
G
G
Dumoulin
R
R
Mathieu
M
M
D000123:Acetyltransferases / Q000378:metabolism; D000649:Amniocentesis; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D007223:Infant; D009084:Mucopolysaccharidosis III / Q000175:diagnosis*; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D011296:Prenatal Diagnosis
D000123:Acetyltransferases; C020580:glucosamine acetyltransferase