Phenotype and Genotype Characterization of Adenine Phosphoribosyltransferase Deficiency

Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive disorder causing 2,8-dihydroxyadenine stones and renal failure secondary to intratubular crystalline precipitation. Little is known regarding the clinical presentation of APRT deficiency, especially in the white popula...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Bollée, Guillaume, Dollinger, Cécile, Boutaud, Lucile, Guillemot, Delphine, Bensman, Albert, Harambat, Jérôme, Deteix, Patrice, Daudon, Michel, Knebelmann, Bertrand, Ceballos-Picot, Irène
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Nephrology 2010
Assuntos:
Clinical Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2844298/
https://ncbi.nlm.nih.gov/pubmed/20150536
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1681/ASN.2009080808
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados