title: Progressive intestinal, neurological and psychiatric problems in two adult males with cerebral creatine deficiency caused by an SLC6A8 mutation.
authors.forename: T
authors.initials: T
authors.lastname: Kleefstra
authors.forename: E H
authors.initials: EH
authors.lastname: Rosenberg
authors.forename: G S
authors.initials: GS
authors.lastname: Salomons
authors.forename: H
authors.initials: H
authors.lastname: Stroink
authors.forename: H
authors.initials: H
authors.lastname: van Bokhoven
authors.forename: B C J
authors.initials: BC
authors.lastname: Hamel
authors.forename: B B A
authors.initials: BB
authors.lastname: de Vries
mesh_terms: D000368:Aged; D020157:Amino Acid Transport Disorders, Inborn / Q000235:genetics / Q000503:physiopathology*; D001921:Brain / Q000378:metabolism*; D003401:Creatine / Q000172:deficiency*; D003863:Depression / Q000235:genetics / Q000503:physiopathology; D018450:Disease Progression; D005260:Female; D005767:Gastrointestinal Diseases / Q000235:genetics / Q000503:physiopathology; D006801:Humans; D008297:Male; D026901:Membrane Transport Proteins / Q000172:deficiency* / Q000235:genetics*; D038901:X-Linked Intellectual Disability / Q000235:genetics / Q000503:physiopathology; D008875:Middle Aged; D009154:Mutation; D013577:Syndrome
chemical_list: D026901:Membrane Transport Proteins; C080679:creatine transporter; D003401:Creatine