X-linked creatine-transporter gene (SLC6A8) defect: A new creatine-deficiency syndrome

American Journal of Human Genetics

Volumn 68, Issue 6, 2001, Pages 1497-1500

  Salomons, Gajja S ^a   Van Dooren, Silvy J M ^a   Verhoeven, Nanda M ^a   Cecil, Kim M ^b   Ball, William S ^b   Degrauw, Ton J ^b   Jakobs, Cornelis ^a  

^a VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY OF CINCINNATI   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CARRIER PROTEIN; CREATINE; CREATINE TRANSPORTER; GUANIDINOACETIC ACID; UNCLASSIFIED DRUG;

ARTICLE; BLOOD LEVEL; CASE REPORT; CREATINE DEFICIENCY SYNDROME; DEVELOPMENTAL DISORDER; FEMALE; FIBROBLAST; GENE MUTATION; HEMIZYGOSITY; HETEROZYGOSITY; HUMAN; LEARNING DISORDER; MALE; MUSCLE HYPOTONIA; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTON NUCLEAR MAGNETIC RESONANCE; SIGNAL TRANSDUCTION; SYNDROME; URINE LEVEL; X CHROMOSOME LINKED DISORDER;

EID: 0034987448     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/320595     Document Type: Article

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