First prenatal diagnosis of acyl-CoA oxidase deficiency.
Wanders
R J
RJ
Department of Paediatrics, University Hospital Amsterdam, The Netherlands.
Schelen
A
A
Feller
N
N
Schutgens
R B
RB
Stellaard
F
F
Jakobs
C
C
Mitulla
B
B
Seidlitz
G
G
D042962:Acyl-CoA Oxidase; D000326:Adrenoleukodystrophy / Q000175:diagnosis; D000328:Adult; D000653:Amniotic Fluid / Q000378:metabolism; D003241:Consanguinity; D003937:Diagnosis, Differential; D005227:Fatty Acids / Q000378:metabolism; D005260:Female; D006801:Humans; D015151:Immunoblotting; D008830:Microbodies / Q000201:enzymology; D010084:Oxidation-Reduction; D010088:Oxidoreductases / Q000172:deficiency*; D010955:Plasmalogens / Q000096:biosynthesis; D011247:Pregnancy; D011296:Prenatal Diagnosis
D005227:Fatty Acids; D010955:Plasmalogens; D010088:Oxidoreductases; D042962:Acyl-CoA Oxidase