Creatine deficiency syndrome caused by guanidinoacetate methyltransferase deficiency: Diagnostic tools for a new inborn error of metabolism

Journal of Pediatrics

Volumn 131, Issue 4, 1997, Pages 626-631

  Schulze, A ^a   Hess, T ^a   Wevers, R ^a   Mayatepek, E ^a   Bachert, P ^a   Marescau, B ^a   Knopp, M V ^a   De Deyn, P P ^a   Bremer, H J ^a   Rating, D ^a  

^a UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CREATINE; CREATINE PHOSPHATE; GUANIDINOACETIC ACID; LIVER ENZYME; METHYLTRANSFERASE;

AMINO ACID ANALYSIS; ANALYZER; ARTICLE; CASE REPORT; CREATINE DEFICIENCY SYNDROME; DEVELOPMENTAL DISORDER; DYSKINESIA; DYSTONIA; ENZYME DEFICIENCY; EPILEPSY; FEMALE; GUANIDINOACETIC ACID METHYLTRANSFERASE DEFICIENCY; HUMAN; INBORN ERROR OF METABOLISM; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTON NUCLEAR MAGNETIC RESONANCE; PSYCHOMOTOR RETARDATION;

EID: 0031457381     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0022-3476(97)70075-1     Document Type: Article

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