A case of Costello syndrome and glycogen storage disease type III.
Kaji
M
M
Division of Endocrinology and Metabolism, Shizuoka Children's Hospital, 860 Urushiyama, Shizuoka 420-8660, Japan. makaji@jun.ncvc.go.jp
Kurokawa
K
K
Hasegawa
T
T
Oguro
K
K
Saito
A
A
Fukuda
T
T
Ito
M
M
Sugie
H
H
D000015:Abnormalities, Multiple / Q000201:enzymology; D002648:Child; D004827:Epilepsy / Q000150:complications* / Q000201:enzymology; D006010:Glycogen Storage Disease Type III / Q000150:complications / Q000175:diagnosis* / Q000201:enzymology; D006801:Humans; D008607:Intellectual Disability / Q000150:complications* / Q000201:enzymology; D008297:Male; D010764:Phosphorylase Kinase / Q000378:metabolism; D011596:Psychomotor Disorders / Q000150:complications* / Q000201:enzymology; D013577:Syndrome
D010764:Phosphorylase Kinase