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...

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Hlavní autoři: Bollée, Guillaume, Dollinger, Cécile, Boutaud, Lucile, Guillemot, Delphine, Bensman, Albert, Harambat, Jérôme, Deteix, Patrice, Daudon, Michel, Knebelmann, Bertrand, Ceballos-Picot, Irène
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society of Nephrology 2010
Témata:
Clinical Research
On-line přístup: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
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