Evidence-based treatment of guanidinoacetate methyltransferase (GAMT) deficiency

Molecular Genetics and Metabolism

Volumn 110, Issue 3, 2013, Pages 255-262

  Viau, Krista S ^a   Ernst, Sharon L ^a   Pasquali, Marzia ^a,b   Botto, Lorenzo D ^a   Hedlund, Gary ^a   Longo, Nicola ^a,b  

^a UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^b ARUP LABORATORIES   (United States)

Author keywords

Creatine; GAMT deficiency; Guanidinoacetate; Intellectual disability; Magnetic resonance spectroscopy

Indexed keywords

ARGININE; BENZOIC ACID; CREATINE; GLYCINE; GUANIDINOACETATE METHYLTRANSFERASE; GUANIDINOACETIC ACID; ORNITHINE;

ADOLESCENT; ADULT; AGED; ARTICLE; BRAIN LEVEL; CHILD; CLINICAL ARTICLE; DIET THERAPY; ENZYME DEFICIENCY; EVIDENCE BASED PRACTICE; FEMALE; GLOBUS PALLIDUS; HUMAN; MALE; MISSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; PRIORITY JOURNAL; PROTEIN INTAKE; PROTEIN RESTRICTION; RETROSPECTIVE STUDY; SCHOOL CHILD; SEIZURE; SUPPLEMENTATION;

CREATINE; GAMT DEFICIENCY; GUANIDINOACETATE; INTELLECTUAL DISABILITY; MAGNETIC RESONANCE SPECTROSCOPY;

CREATINE; DIET, PROTEIN-RESTRICTED; FEMALE; GENOTYPE; GUANIDINOACETATE N-METHYLTRANSFERASE; HUMANS; INFANT; INFANT, NEWBORN; LANGUAGE DEVELOPMENT DISORDERS; MAGNETIC RESONANCE SPECTROSCOPY; MALE; MOVEMENT DISORDERS; MUTATION; ORNITHINE; TREATMENT OUTCOME;

EID: 84885432279     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2013.08.020     Document Type: Article

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