Adenylosuccinase deficiency: a newly recognized variant.
Jaeken
J
J
Department of Paediatrics, University Hospital Gasthuisberg, Leuven, Belgium.
Van den Bergh
F
F
Vincent
M F
MF
Casaer
P
P
Van den Berghe
G
G
D000241:Adenosine / Q000031:analogs & derivatives / Q000134:cerebrospinal fluid / Q000652:urine; D000264:Adenylosuccinate Lyase / Q000172:deficiency*; D000620:Aminoimidazole Carboxamide / Q000031:analogs & derivatives / Q000134:cerebrospinal fluid / Q000652:urine; D002648:Child; D002851:Chromatography, High Pressure Liquid; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D012263:Ribonucleosides / Q000134:cerebrospinal fluid / Q000652:urine
D012263:Ribonucleosides; C043566:succinylaminoimidazole carboxamide riboside; D000620:Aminoimidazole Carboxamide; C043565:succinyladenosine; D000264:Adenylosuccinate Lyase; D000241:Adenosine