A case of hyperinsulinism/hyperammonaemia syndrome: usefulness of the oral protein tolerance for the evaluation of treatment.
Toriumi
Yoshitaka
Y
Department of Paediatrics, Shimane University School of Medicine, Izumo, Japan. toriumi@r3.dion.ne.jp
Murata
Kohji
K
Taketani
Takeshi
T
Uchiyama
Atsushi
A
Ohie
Takaharu
T
Yamaguchi
Seiji
S
D002648:Child; D005091:Exons; D005260:Female; D005969:Glutamate Dehydrogenase / Q000235:genetics; D006801:Humans; D022124:Hyperammonemia / Q000175:diagnosis* / Q000235:genetics; D006946:Hyperinsulinism / Q000175:diagnosis* / Q000235:genetics; D007003:Hypoglycemia; D007930:Leucine; D009154:Mutation; D013577:Syndrome
D005969:Glutamate Dehydrogenase; D007930:Leucine