Progressive intestinal, neurological and psychiatric problems in two adult males with cerebral creatine deficiency caused by an SLC6A8 mutation.
Kleefstra
T
T
Rosenberg
E H
EH
Salomons
G S
GS
Stroink
H
H
van Bokhoven
H
H
Hamel
B C J
BC
de Vries
B B A
BB
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
D026901:Membrane Transport Proteins; C080679:creatine transporter; D003401:Creatine