The spectrum of HGPRT deficiency: Clinical experience based on 20 patients from 16 Spanish families

Advances in Experimental Medicine and Biology

Volumn 431, Issue , 1998, Pages 25-29

  Puig, Juan G ^a   Torres, Rosa J ^a   Mateos, Felícitas A ^a   Areas, Joaquín ^a   Buño, Antonio ^a   Pascual Castroviejo, Ignacio ^a  

^a UNIVERSIDAD AUTÓNOMA DE MADRID   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

BIOCHEMICAL MARKER; CREATININE; URIC ACID;

ADOLESCENT; ADULT; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONFERENCE PAPER; CREATININE URINE LEVEL; DIFFERENTIAL DIAGNOSIS; DISEASE CLASSIFICATION; DISEASE SEVERITY; ENZYME ASSAY; GENE MUTATION; GENETIC COUNSELING; GENETIC LINKAGE; HUMAN; INFANT; LABORATORY DIAGNOSIS; LESCH NYHAN SYNDROME; PRIORITY JOURNAL; URIC ACID BLOOD LEVEL; URIC ACID URINE LEVEL;

EID: 0031808775     PISSN: 00652598     EISSN: None     Source Type: Book Series    
DOI: 10.1007/978-1-4615-5381-6_5     Document Type: Conference Paper

References (10)

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