Treatment by oral creatine, L-arginine and L-glycine in six severely affected patients with creatine transporter defect

Journal of Inherited Metabolic Disease

Volumn 35, Issue 1, 2012, Pages 151-157

  Valayannopoulos, Vassili ^a,b   Boddaert, Nathalie ^a   Chabli, Allel ^a   Barbier, Valerie ^a   Desguerre, Isabelle ^a   Philippe, Anne ^a,b   Afenjar, Alexandra ^c   Mazzuca, Michel ^b   Cheillan, David ^d   Munnich, Arnold ^a,b   De Keyzer, Yves ^b   Jakobs, Cornelis ^e   Salomons, Gajja S ^e   De Lonlay, Pascale ^a,b  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b INSERM   (France)

^c ARMAND TROUSSEAU HOSPITAL   (France)

^d Metabolic Biochemistry Laboratory   (France)

^e VU UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; CREATINE; CREATININE; GLYCINE;

ADOLESCENT; ARTICLE; AUTISM; BODY MASS; BRAIN LEVEL; CHILD; CLINICAL ARTICLE; COMBINATION CHEMOTHERAPY; CREATINE TRANSPORTER DEFECT; CREATININE URINE LEVEL; DISEASE SEVERITY; DRUG ADMINISTRATION ROUTE; DRUG EFFICACY; FEMALE; HALLUCINATION; HUMAN; INTELLECTUAL IMPAIRMENT; KIDNEY FUNCTION; KIDNEY TUBULE FUNCTION; MALE; MENTAL DEFICIENCY; MONOTHERAPY; MUSCLE DISEASE; MUSCLE MASS; MUTATIONAL ANALYSIS; MYOPATHY; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; OUTCOME ASSESSMENT; PRESCHOOL CHILD; SEIZURE; SIDE EFFECT; TREATMENT DURATION; WEIGHT GAIN; X CHROMOSOME LINKED DISORDER;

ADMINISTRATION, ORAL; ADOLESCENT; AMINO ACID TRANSPORT DISORDERS, INBORN; ARGININE; CHILD; CHILD, PRESCHOOL; COGNITION DISORDERS; CREATINE; FEMALE; GLYCINE; HUMANS; INTELLECTUAL DISABILITY; MAGNETIC RESONANCE SPECTROSCOPY; MALE; MEMBRANE TRANSPORT PROTEINS; NERVE TISSUE PROTEINS; PLASMA MEMBRANE NEUROTRANSMITTER TRANSPORT PROTEINS;

EID: 84863315459     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-011-9358-9     Document Type: Article

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