Arginine:Glycine amidinotransferase deficiency: The third inborn error of creatine metabolism in humans

American Journal of Human Genetics

Volumn 69, Issue 5, 2001, Pages 1127-1133

  Item, Chike Bellarmine ^a   Stoöckler Ipsiroglu, Sylvia ^a   Stromberger, Carmen ^a   Mühl, Adolf ^a   Alessandrì, Maria Grazia ^b   Bianchi, Maria Cristina ^c   Tosetti, Michela ^b   Fornai, Francesco ^d   Cioni, Giovanni ^b  

^a UNIVERSITY OF VIENNA   (Austria)

^b DEPARTMENT OF DEVELOPMENTAL NEUROSCIENCE   (Italy)

^c Santa Chiara University Hospital   (Italy)

^d UNIVERSITY OF PISA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CREATINE; GLYCINE AMIDINOTRANSFERASE; GUANIDINOACETIC ACID; TRYPTOPHAN;

ARTICLE; CASE REPORT; CATALYSIS; CODON; DIET SUPPLEMENTATION; ENZYME ACTIVITY; ENZYME DEFICIENCY; FEMALE; GENETIC DISORDER; HOMOZYGOSITY; HUMAN; INBORN ERROR OF METABOLISM; LYMPHOCYTE TRANSFORMATION; MENTAL DEFICIENCY; NEUROLOGICAL COMPLICATION; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN METABOLISM; PROTEIN SYNTHESIS; SIBLING; SKIN FIBROBLAST; URINALYSIS;

EID: 0034764751     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/323765     Document Type: Article

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