Adenylosuccinase deficiency presenting with epilepsy in early infancy.
Maaswinkel-Mooij
P D
PD
Department of Pediatrics, Leiden University Hospital, The Netherlands.
Laan
L A
LA
Onkenhout
W
W
Brouwer
O F
OF
Jaeken
J
J
Poorthuis
B J
BJ
D000927:Anticonvulsants / Q000627:therapeutic use; D004829:Epilepsy, Generalized / Q000188:drug therapy / Q000209:etiology*; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000209:etiology; D010634:Phenobarbital / Q000627:therapeutic use; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000150:complications / Q000201:enzymology*
D000927:Anticonvulsants; D010634:Phenobarbital