Disorders of creatine transport and metabolism

American Journal of Medical Genetics, Part C: Seminars in Medical Genetics

Volumn 157, Issue 1, 2011, Pages 72-78

  Longo, Nicola ^a   Ardon, Orly ^b   Vanzo, Rena ^c   Schwartz, Elizabeth ^d   Pasquali, Marzia ^b  

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

^b ARUP LABORATORIES   (United States)

^c UNIVERSITY OF UTAH   (United States)

^d ARUP INSTITUTE FOR CLINICAL AND EXPERIMENTAL PATHOLOGY   (United States)

Author keywords

AGAT; Creatine; Creatine transport; GAMT; Guanidinoacetate; X linked mental retardation

Indexed keywords

ARGININE; BENZOIC ACID; CREATINE; CREATINE KINASE BB; GLYCINE; GUANIDINOACETIC ACID; ORNITHINE;

ARGININE GLYCINE AMIDINOTRANSFERASE DEFICIENCY; ARTICLE; AUTISM; AUTOSOMAL RECESSIVE INHERITANCE; BEHAVIOR DISORDER; BIOSYNTHESIS; BLOOD LEVEL; BODY GROWTH; CHROMOSOME 15Q; CREATINE SUPPLEMENT; CREATININE URINE LEVEL; DEVELOPMENTAL DISORDER; DIFFERENTIAL DIAGNOSIS; DISORDER OF CREATINE TRANSPORT; DISORDERS OF CREATINE TRANSPORT AND METABOLISM; EXON; FAILURE TO THRIVE; FEBRILE CONVULSION; GENETIC SCREENING; GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY; HUMAN; INBORN ERROR OF METABOLISM; MENTAL DEFICIENCY; MISSENSE MUTATION; MUSCLE HYPOTONIA; NEWBORN SCREENING; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; PLASMA; PRIORITY JOURNAL; PROTEIN RESTRICTION; SUPPLEMENTATION; TREATMENT RESPONSE; X CHROMOSOME LINKED DISORDER;

AMIDINOTRANSFERASES; BRAIN DISEASES, METABOLIC, INBORN; CREATINE; CREATININE; GLYCINE; GUANIDINOACETATE N-METHYLTRANSFERASE; HUMANS; INFANT, NEWBORN; MAGNETIC RESONANCE SPECTROSCOPY; MENTAL RETARDATION, X-LINKED; NEONATAL SCREENING; PLASMA MEMBRANE NEUROTRANSMITTER TRANSPORT PROTEINS;

EID: 79951701408     PISSN: 15524868     EISSN: 15524876     Source Type: Journal    
DOI: 10.1002/ajmg.c.30292     Document Type: Article

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