The diagnosis of HPRT deficiency in the 21st century

Nucleosides, Nucleotides and Nucleic Acids

Volumn 27, Issue 6-7, 2008, Pages 564-569

  Torres, R J ^a   Puig, J G ^a  

^a HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

Author keywords

Allopurinol; HPRT; Lesch Nyhan syndrome; Molecular diagnosis; Urolithiasis

Indexed keywords

ALLOPURINOL; URIC ACID;

CHOREOATHETOSIS; CLINICAL ARTICLE; CLINICAL FEATURE; CONFERENCE PAPER; CONTROLLED STUDY; DIAGNOSTIC PROCEDURE; DOSE RESPONSE; DRUG HYPERSENSITIVITY; DYSTONIA; ENZYME ACTIVITY; ENZYME ASSAY; GENE MUTATION; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; HUMAN CELL; LESCH NYHAN SYNDROME; MENTAL DEFICIENCY; MUSCLE HYPOTONIA; UROLITHIASIS;

ADOLESCENT; ALLOPURINOL; CHILD, PRESCHOOL; HUMANS; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; LESCH-NYHAN SYNDROME; MUTATION; PURINES;

EID: 46749123443     PISSN: 15257770     EISSN: 15322335     Source Type: Journal    
DOI: 10.1080/15257770802135778     Document Type: Conference Paper

References (7)

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