Evaluation of two year treatment outcome and limited impact of arginine restriction in a patient with GAMT deficiency

Molecular Genetics and Metabolism

Volumn 105, Issue 1, 2012, Pages 155-158

  Mercimek Mahmutoglu, Saadet ^a,b   Dunbar, Mary ^c   Friesen, Andrea ^a   Garret, Susan ^a   Hartnett, Carol ^a   Huh, Linda ^a   Sinclair, Graham ^a   Stockler, Sylvia ^a   Wellington, Stephen ^a   Pouwels, Petra J W ^b   Salomons, Gajja S ^b   Jakobs, Cornelis ^b  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^b VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^c UNIVERSITY OF CALGARY   (Canada)

Author keywords

Arginine restricted diet; Autism; Creatine therapy; GAMT deficiency; Global developmental delay

Indexed keywords

ARGININE; CHOLINE; CREATINE; ESSENTIAL AMINO ACID; GUANIDINOACETATE METHYLTRANSFERASE; ORNITHINE;

ADD ON THERAPY; ARTICLE; AUTISM; BASAL GANGLION; BRAIN ATROPHY; CASE REPORT; CEREBROSPINAL FLUID; CHILD; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; DIET RESTRICTION; DIET SUPPLEMENTATION; ELECTROENCEPHALOGRAM; ENZYME DEFICIENCY; FEMALE; GENE MUTATION; GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY; GUANIDOACETATE METHYLTRANSFERASE DEFICIENCY; HISTOPATHOLOGY; HUMAN; HYPERACTIVITY; LABORATORY TEST; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; ONSET AGE; PERCEPTION DEAFNESS; PRESCHOOL CHILD; PRIORITY JOURNAL; TREATMENT OUTCOME; TREATMENT RESPONSE; WHITE MATTER;

ARGININE; CHILD, PRESCHOOL; DIET; FEMALE; GLYCINE; GUANIDINOACETATE N-METHYLTRANSFERASE; HUMANS; INFANT; INFANT, NEWBORN; METABOLISM, INBORN ERRORS; TREATMENT OUTCOME;

EID: 84855352215     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2011.09.037     Document Type: Article

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