title: High frequency of creatine deficiency syndromes in patients with unexplained mental retardation.
authors.affiliation: Service de Neurologie Pédiatrique, Hôpital Debrousse, Hospices Civils de Lyon, France. laurence.francois@chu-lyon.fr
authors.forename: L
authors.initials: L
authors.lastname: Lion-François
authors.forename: D
authors.initials: D
authors.lastname: Cheillan
authors.forename: G
authors.initials: G
authors.lastname: Pitelet
authors.forename: C
authors.initials: C
authors.lastname: Acquaviva-Bourdain
authors.forename: G
authors.initials: G
authors.lastname: Bussy
authors.forename: F
authors.initials: F
authors.lastname: Cotton
authors.forename: L
authors.initials: L
authors.lastname: Guibaud
authors.forename: D
authors.initials: D
authors.lastname: Gérard
authors.forename: C
authors.initials: C
authors.lastname: Rivier
authors.forename: C
authors.initials: C
authors.lastname: Vianey-Saban
authors.forename: C
authors.initials: C
authors.lastname: Jakobs
authors.forename: G S
authors.initials: GS
authors.lastname: Salomons
authors.forename: V
authors.initials: V
authors.lastname: des Portes
mesh_terms: 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
chemical_list: D026901:Membrane Transport Proteins; C080679:creatine transporter; D003404:Creatinine; C494506:GAMT protein, human; D050937:Guanidinoacetate N-Methyltransferase; D000579:Amidinotransferases; C020681:glycine amidinotransferase; D003401:Creatine