Hypercalcaemia in glycogen storage disease type Ia: a case with R83H and 341delG mutations.
Hwu
W L
WL
Department of Pediatrics, National Taiwan University Hospital, Taipei, ROC.
Chiang
S C
SC
Huang
S F
SF
Chang
M H
MH
Wen
W H
WH
Wang
T R
TR
D004032:Diet; D005953:Glycogen Storage Disease Type I / Q000150:complications* / Q000178:diet therapy / Q000235:genetics*; D006801:Humans; D006934:Hypercalcemia / Q000150:complications* / Q000178:diet therapy; D007231:Infant, Newborn; D008099:Liver / Q000473:pathology; D008297:Male; D009154:Mutation / Q000502:physiology; D017384:Sequence Deletion