English Journal

Gupta V1, El Ters M2, Kashani K3, Leung N4, Nasr SH5.
Journal of the American Society of Nephrology : JASN.J Am Soc Nephrol.2015 Mar;26(3):525-9. doi: 10.1681/ASN.2014050509. Epub 2014 Sep 4.
Crystalline nephropathy refers to renal parenchymal deposition of crystals leading to kidney damage. The most common forms of crystalline nephropathy encountered in renal pathology are nephrocalcinosis and oxalate nephropathy. Less frequent types include urate nephropathy, cystinosis, dihydroxyadeni
PMID 25190731

Marangella M, Marcuccio C, Vitale C.
Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologia.G Ital Nefrol.2015;32 Suppl 64. pii: gin/32.S64.7.
Nephrolithiasis (NL) has high and increasing prevalence in western countries. Most renal stones contain calcium and/or uric acid and often occur as idiopathic stones, while seldom are caused by genetic disorders. Conversely, cystinuria, xantinuria, 2-8 dihydroxyadeninuria only occur in patients with
PMID 26479054

Unexpectedly high prevalence of rare genetic disorders in kidney transplant recipients with an unknown causal nephropathy.

Quaglia M1, Musetti C, Ghiggeri GM, Fogazzi GB, Settanni F, Boldorini RL, Lazzarich E, Airoldi A, Izzo C, Giordano M, Stratta P.
Clinical transplantation.Clin Transplant.2014 Sep;28(9):995-1003. doi: 10.1111/ctr.12408. Epub 2014 Jul 18.
BACKGROUND: Patients with a rare genetic disease may receive renal transplantation (KTx) without a correct diagnosis of causal nephropathy and therefore develop unexpected and even severe complications. The aim of the study was to describe the cases of rare genetic disorders diagnosed after KTx, in
PMID 24961278

Japanese Journal

Simultaneous determination of 16 purine derivatives in urinary calculi by gradient reversed-phase high-performance liquid chromatography with UV detection

SAFRANOW Krzysztof,MACHOY Zygmunt
Journal of chromatography. B, Analytical technologies in the biomedical and life sciences 819(2), 229-235, 2005-05-25
NAID 10016981773

Hyperadeninuria in a Patient with Congenital Deficiency of Adenine Phosphoribosyltransferase

野呂忠夫,神川晃,佐守友仁
先天異常 : 日本先天異常学会会報 : official journal of Congeital Anomalies Research Association of Japan 25(1), 57-64, 1985-03-30
NAID 110002728930