original ) (raw )Two birds one stone-two rare cases of adenine phosphoribosyl transferase deficiency
Mahesha Vankalakunti
International Journal of Research in Medical Sciences, 2023
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Crystalline nephropathy due to adenine phosphoribosyl transferase deficiency as a cause of renal allograft dysfunction
Umapati Hegde
Archives of Clinical Nephrology, 2020
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Adenine Phosphoribosyltransferase Deficiency as a Rare Cause of Renal Allograft Dysfunction
A. Raisanen-sokolowski
Journal of the American Society of Nephrology, 2014
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Adenine phosphoribosyltransferase (APRT) deficiency: identification of a novel nonsense mutation
Andrea Ghiroldi
BMC nephrology, 2014
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Adenine Phosphoribosyltransferase Deficiency
Albert Bensman
Clinical Journal of the American Society of Nephrology, 2012
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Phenotype and Genotype Characterization of Adenine Phosphoribosyltransferase Deficiency
Jérôme Harambat , Albert Bensman
Journal of the American Society of Nephrology, 2010
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Missense mutation in the adenine phosphoribosyltransferase gene causing 2, 8-dihydroxyadenine urolithiasis
Simeon Boyadjiev
Human Molecular Genetics, 1994
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Adenine phosphoribosyltransferase deficiency and renal allograft dysfunction
Chung-Jen Chen
American Journal of Kidney Diseases, 2001
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Adenine phosphoribosyltransferase deficiency in children
Michel Daudon , Albert Bensman
Pediatric nephrology (Berlin, Germany), 2012
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Is adenine phophorybosiltransferase deficiency a still underdiagnosed cause of urolithiasis and chronic renal failure? A report of two cases in a family with an uncommon novel mutation
Barbara Tavazzi
NDT Plus, 2008
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Chronic renal failure in a mouse model of human adenine phosphoribosyltransferase deficiency
Amrik Sahota
American Journal of Physiology-Renal Physiology, 1998
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Decreased Kidney Function and Crystal Deposition in the Tubules After Kidney Transplant
Roberta Fenoglio
American Journal of Kidney Diseases, 2010
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Clinical, biochemical and molecular diagnosis of a compound homozygote for the 254 bp deletion–8 bp insertion of the APRT gene suffering from severe renal failure
Valentina Pietro , Giuseppe Lazzarino
2007
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Recurrent 2,8-Dihydroxyadenine Nephropathy: A Rare but Preventable Cause of Renal Allograft Failure
Vidar Edvardsson
American Journal of Transplantation, 2014
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2,8-Dihydroxyadenine Nephropathy Identified as Cause of End-Stage Renal Disease After Renal Transplant
Issam Francis
Experimental and clinical transplantation : official journal of the Middle East Society for Organ Transplantation, 2017
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Maternal uniparental disomy of chromosome 16 in a patient with adenine phosphoribosyltransferase deficiency
Michel Daudon , Vincent Morinière
Clinical Genetics, 2011
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Adenine Phosphoribosyltransferase Deficiency: A Rare Cause of Recurrent Urolithiasis
Chandra Biyani
Journal of endourology case reports, 2017
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Characterization of the biochemical basis of a complete deficiency of the adenine phosphoribosyl transferase (APRT)
W. Doppler
Human Genetics, 1981
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Identification of a single missense mutation in the adenine phosphoribosyltransferase (APRT) gene from five Icelandic patients and a British patient
Amrik Sahota
American journal of human genetics, 1991
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Quantitative UPLC-MS/MS assay of urinary 2,8-dihydroxyadenine for diagnosis and management of adenine phosphoribosyltransferase deficiency
Nilesh Kamble
Journal of chromatography. B, Analytical technologies in the biomedical and life sciences, 2016
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Identification of a splice mutation at the adenine phosphoribosyltransferase locus in a German family
Birgit Gathof
Klinische Wochenschrift, 1991
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Rare crystalline nephropathy leading to acute graft dysfunction: a case report
Sahil bagai
BMC Nephrology, 2019
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Combined Adenine Phosphoribosyltransferase and N-acetylgalactosamine-6-sulfate Sulfatase Deficiency
Jay Tischfield
Molecular Genetics and Metabolism, 1999
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Three-Dimensional Structure of Human Adenine Phosphoribosyltransferase and Its Relation to DHA-Urolithiasis
Marcio Silva
Biochemistry, 2004
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Adenine phosphoribosyltransferase: A simple spectrophotometric assay and the incidence of mutation in the normal population
Lambro Johnson
Biochemical Genetics, 1977
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2,8-Dihydroxyadenine lithiasis in a Japanese patient heterozygous at the adenine phosphoribosyltransferase locus
Amrik Sahota
American journal of human genetics, 1991
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Adenosine deaminase and purine nucleoside phosphorylase deficiencies: Evaluation of therapeutic interventions in eight patients
Rebecca Buckley
Journal of Clinical Immunology, 1987
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Genetic Causes of Kidney Stones and Kidney Failure
Vidar Edvardsson
Clinical Reviews in Bone and Mineral Metabolism, 2011
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Analysis of germline and in vivo somatic mutations in the human adenine phosphoribosyltransferase gene: mutational hot spots at the intron 4 splice donor site and at codon 87
Jay Tischfield
Mutation research, 1993
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Cloning of a functional human adenine phosphoribosyltransferase (APRT) gene: Identification of a restriction fragment length polymorphism and preliminary analysis of DNAs from APRT-deficient families and cell mutants
Jay Tischfield
Somatic Cell and Molecular Genetics, 1984
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