Secondary creatine deficiency in ornithine delta-aminotransferase deficiency

Molecular Genetics and Metabolism

Volumn 97, Issue 2, 2009, Pages 109-113

  Valayannopoulos, V ^a   Boddaert, N ^a   Mention, K ^a   Touati, G ^a   Barbier, V ^a   Chabli, A ^a   Sedel, F ^c   Kaplan, J ^a   Dufier, J L ^a   Seidenwurm, David ^d   Rabier, D ^a   Saudubray, J M ^a   de Lonlay, P ^a,b  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b INSERM   (France)

^c PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^d Radiological Associates of Sacramento Medical Group Inc   (United States)

Author keywords

Creatine deficiency; Gyrate atrophy; Magnetic resonance spectroscopy; Neurocognitive impairment

Indexed keywords

CREATINE; GUANIDINOACETIC ACID; ORNITHINE OXOACID AMINOTRANSFERASE;

ADOLESCENT; ADULT; AGGRESSION; AMINO ACID DEFICIENCY; AMINO ACID METABOLISM; ARTICLE; CLINICAL ARTICLE; COGNITIVE DEFECT; CONTROLLED STUDY; CREATINE DEFICIENCY; DISEASE ASSOCIATION; DYSPRAXIA; ENZYME DEFECT; EPILEPSY; HUMAN; MENTAL DEFICIENCY; NEUROIMAGING; NEUROPSYCHOLOGICAL TEST; ORNITHINE DELTA AMINOTRANSFERASE DEFICIENCY; PRIORITY JOURNAL; PROTON NUCLEAR MAGNETIC RESONANCE; RETINA GYRATE ATROPHY;

ADOLESCENT; ADULT; AGGRESSION; APRAXIAS; BRAIN; CHILD; CREATINE; EPILEPSY; FEMALE; GYRATE ATROPHY; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MENTAL RETARDATION; ORNITHINE-OXO-ACID TRANSAMINASE; RETROSPECTIVE STUDIES; YOUNG ADULT;

EID: 67349099925     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2008.12.010     Document Type: Article

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