Quantitative UPLC–MS/MS assay of urinary 2,8-dihydroxyadenine for diagnosis and management of adenine phosphoribosyltransferase deficiency-Reference-Cited by-同舟云学术

Quantitative UPLC–MS/MS assay of urinary 2,8-dihydroxyadenine for diagnosis and management of adenine phosphoribosyltransferase deficiency

Published:2016-11 Issue: Volume:1036-1037 Page:170-177
ISSN:1570-0232
Container-title:Journal of Chromatography B
language:en
Short-container-title:Journal of Chromatography B

Author:

Thorsteinsdottir Margret,Thorsteinsdottir Unnur A.^ORCID,Eiriksson Finnur F.,Runolfsdottir Hrafnhildur L.,Agustsdottir Inger M.Sch.,Oddsdottir Steinunn,Sigurdsson Baldur B.^ORCID,Hardarson Hordur K.,Kamble Nilesh R.,Sigurdsson Snorri Th.,Edvardsson Vidar O.,Palsson Runolfur

Funder

Rare Kidney Stone Consortium

NCATS

National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)

Publisher

Elsevier BV

Subject

Cell Biology,Clinical Biochemistry,Biochemistry,General Medicine,Analytical Chemistry

Reference30 articles.

1. The identification of 2,8-dihydroxyadenine, a new component of urinary stones;Simmonds;Biochem. J.,1976

2. A case of compound heterozygote for adenine phosphoribosyltransferase deficiency (APRT*J/APRT*Q0) leading to 2,8-dihydroxyadenine urolithiasis: review of the reported cases with 2,8-dihydroxyadenine stones in Japan;Takeuchi;J. Urol.,1993

3. Adenine phosphoribosyltransferase deficiency and 2,8-dihydroxyadenine lithiasis;Sahota,2001