title: A case of Costello syndrome and glycogen storage disease type III.
authors.affiliation: Division of Endocrinology and Metabolism, Shizuoka Children's Hospital, 860 Urushiyama, Shizuoka 420-8660, Japan. makaji@jun.ncvc.go.jp
authors.forename: M
authors.initials: M
authors.lastname: Kaji
authors.forename: K
authors.initials: K
authors.lastname: Kurokawa
authors.forename: T
authors.initials: T
authors.lastname: Hasegawa
authors.forename: K
authors.initials: K
authors.lastname: Oguro
authors.forename: A
authors.initials: A
authors.lastname: Saito
authors.forename: T
authors.initials: T
authors.lastname: Fukuda
authors.forename: M
authors.initials: M
authors.lastname: Ito
authors.forename: H
authors.initials: H
authors.lastname: Sugie
mesh_terms: 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
chemical_list: D010764:Phosphorylase Kinase