Guanidinoacetate methyltransferase deficiency: The first inborn error of creatine metabolism in man

American Journal of Human Genetics

Volumn 58, Issue 5, 1996, Pages 914-922

  Stöckler, Sylvia ^b   Isbrandt, Dirk ^b   Hanefeld, Folker ^b   Schmidt, Bernhard ^b   Von Figura, Kurt ^a  

^a UNIVERSITY OF GÖTTINGEN   (Germany)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

BETA N ACETYLHEXOSAMINIDASE; CREATINE; CREATINE PHOSPHATE; CREATININE; DNA; GUANIDINOACETIC ACID; LACTATE DEHYDROGENASE; METHYLTRANSFERASE; POLYPEPTIDE; RNA;

ALLELE; ARTICLE; CASE REPORT; CHILD; CONTROLLED STUDY; ELECTROENCEPHALOGRAPHY; ENZYME ACTIVITY; ENZYME DEFICIENCY; GENE; HUMAN; HUMAN TISSUE; LIVER; MALE; METABOLISM; MICROSCOPY; MUTANT; NORTHERN BLOTTING; NUCLEAR MAGNETIC RESONANCE IMAGING; PHOSPHORUS NUCLEAR MAGNETIC RESONANCE; PRIORITY JOURNAL; PROTON NUCLEAR MAGNETIC RESONANCE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

ALLELES; BASE SEQUENCE; CHILD, PRESCHOOL; CREATINE; FEMALE; GUANIDINOACETATE N-METHYLTRANSFERASE; HUMANS; INFANT; MALE; METABOLISM, INBORN ERRORS; METHYLTRANSFERASES; MOLECULAR SEQUENCE DATA; MUTATION;

EID: 0029959969     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (8)

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