L-arginine:glycine amidinotransferase (AGAT) deficiency: Clinical presentation and response to treatment in two patients with a novel mutation

Molecular Genetics and Metabolism

Volumn 101, Issue 2-3, 2010, Pages 228-232

  Edvardson, Simon ^a   Korman, Stanley H ^a   Livne, Amir ^b   Shaag, Avraham ^a   Saada, Ann ^a   Nalbandian, Ruppen ^a   Allouche Arnon, Hyla ^a   Gomori, J Moshe ^a   Katz Brull, Rachel ^a  

^a HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^b ASSAF HAROFEH MEDICAL CENTER   (Israel)

Author keywords

Creatine; L arginine:glycine amidinotransferase; Mitochondrial; Myopathy; Spectroscopy

Indexed keywords

CARBOXYLIC ACID; CREATINE; CREATINE PHOSPHATE; CREATININE; GLYCINE AMIDINOTRANSFERASE; GUANIDINOACETIC ACID;

ADOLESCENT; ADULT; ARTICLE; CASE REPORT; CLINICAL ASSESSMENT; CLINICAL FEATURE; COGNITION; CREATININE URINE LEVEL; ELECTRON MICROSCOPY; ENZYME ACTIVITY; ENZYME DEFICIENCY; FEMALE; FRAMESHIFT MUTATION; GATM GENE; GENE INSERTION; GENE MUTATION; GENETIC CODE; GLYCINE AMIDINOTRANSFERASE DEFICIENCY; HUMAN; INTELLIGENCE QUOTIENT; MALE; MENTAL DEFICIENCY; MUSCLE BIOPSY; MUSCLE STRENGTH; MUSCLE WEAKNESS; MUTATOR GENE; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; PRIORITY JOURNAL; RESPIRATORY CHAIN; SINGLE NUCLEOTIDE POLYMORPHISM; TANDEM MASS SPECTROMETRY; TREATMENT OUTCOME; TREATMENT RESPONSE; URINALYSIS;

ADOLESCENT; AMIDINOTRANSFERASES; AMINO ACID METABOLISM, INBORN ERRORS; CHILD; COGNITION; CREATINE; FEMALE; FRAMESHIFT MUTATION; HUMANS; MALE; TREATMENT OUTCOME;

EID: 77957308438     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2010.06.021     Document Type: Article

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