High frequency of creatine deficiency syndromes in patients with unexplained mental retardation.
Lion-François
L
L
Service de Neurologie Pédiatrique, Hôpital Debrousse, Hospices Civils de Lyon, France. laurence.francois@chu-lyon.fr
Cheillan
D
D
Pitelet
G
G
Acquaviva-Bourdain
C
C
Bussy
G
G
Cotton
F
F
Guibaud
L
L
Gérard
D
D
Rivier
C
C
Vianey-Saban
C
C
Jakobs
C
C
Salomons
G S
GS
des Portes
V
V
D000293:Adolescent; D000579:Amidinotransferases / Q000235:genetics; D001921:Brain / Q000201:enzymology* / Q000473:pathology / Q000503:physiopathology; D020739:Brain Diseases, Metabolic, Inborn / Q000150:complications* / Q000201:enzymology* / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D025063:Chromosome Disorders / Q000201:enzymology / Q000235:genetics / Q000503:physiopathology; D003401:Creatine / Q000172:deficiency* / Q000235:genetics; D003404:Creatinine / Q000378:metabolism; D004252:DNA Mutational Analysis; D005260:Female; D005808:Genes, Recessive / Q000235:genetics; D040181:Genetic Diseases, X-Linked / Q000201:enzymology / Q000235:genetics / Q000503:physiopathology; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D050937:Guanidinoacetate N-Methyltransferase / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000201:enzymology* / Q000209:etiology* / Q000235:genetics; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics; D011446:Prospective Studies; D012737:Sex Factors
D026901:Membrane Transport Proteins; C080679:creatine transporter; D003404:Creatinine; C494506:GAMT protein, human; D050937:Guanidinoacetate N-Methyltransferase; D000579:Amidinotransferases; C020681:glycine amidinotransferase; D003401:Creatine