HPRT deficiency as the cause of ESRD in a 24-year-old patient: A very rare presentation of the disorder

Journal of Nephrology

Volumn 18, Issue 4, 2005, Pages 447-451

  Kassimatis, Theodoros I ^a   Simmonds, H Anne ^b   Goudas, Pavlos C ^a   Marinaki, Anthony M ^b   Fairbanks, Lynette D ^b   Diamandopoulos, Athanasios A ^a  

^a UNIVERSITY GENERAL HOSPITAL OF PATRAS   (Greece)

^b GUY S HOSPITAL   (United Kingdom)

Author keywords

End stage renal disease; HPRT deficiency; Hyperuricemia; Kelley Seegmiller syndrome

Indexed keywords

ALLOPURINOL; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; URIC ACID;

ADULT; ANAMNESIS; ARTICLE; CASE REPORT; CLINICAL EXAMINATION; ECHOGRAPHY; ENZYME DEFICIENCY; FAMILY HISTORY; GLOMERULUS FILTRATION RATE; GOUT; HOSPITAL ADMISSION; HUMAN; HYPERURICEMIA; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY; KELLY SEEGMILLER SYNDROME; KIDNEY FAILURE; MALE; MICROSCOPY; SYMPTOM; URIC ACID BLOOD LEVEL; URINALYSIS;

ADULT; DIAGNOSIS, DIFFERENTIAL; HUMANS; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; KIDNEY FAILURE, CHRONIC; LESCH-NYHAN SYNDROME; MALE; PEDIGREE;

EID: 28244481149     PISSN: 11218428     EISSN: 17246059     Source Type: Journal    
DOI: None     Document Type: Article

References (13)

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