Adenine phosphoribosyltransferase deficiency in children (original) (raw)
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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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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Adenine phosphoribosyltransferase (APRT) deficiency: identification of a novel nonsense mutation
Andrea Ghiroldi
BMC nephrology, 2014
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Adenine phosphoribosyltransferase (APRT) deficiency: a new genetic mutation with early recurrent renal stone disease in kidney transplantation
Vanna Micheli
NDT Plus, 2010
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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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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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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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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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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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Adenine phosphoribosyltransferase: A simple spectrophotometric assay and the incidence of mutation in the normal population
Lambro Johnson
Biochemical Genetics, 1977
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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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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 and renal allograft dysfunction
Chung-Jen Chen
American Journal of Kidney Diseases, 2001
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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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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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Increased Excretion of Modified Adenine Nucleosides by Children with Adenosine Deaminase Deficiency
erwin gelfand
Pediatric Research, 1982
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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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Purine Metabolism and Immunodeficiency: Urinary Purine Excretion as a Diagnostic Screening Test in Adenosine Deaminase and Purine Nucleoside Phosphorylase Deficiency
Amrik Sahota
Clinical Science, 1978
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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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Purine enzyme defects as a cause of acute renal failure in childhood
Michael Dillon
Pediatric Nephrology, 1989
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Intrafamilial variability in the phenotypic expression of adenylosuccinate lyase deficiency: A report on three patients
Patrick Edery
American Journal of Medical Genetics, 2003
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Hereditary causes of kidney stones and chronic kidney disease
Franca Anglani
Pediatric Nephrology, 2013
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Deficiency of Adenosine Deaminase 2 (DADA2): One Disease, Several Faces
divya ramadoss
Indian Journal of Pediatrics
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Adenylosuccinate Lyase Deficiency (ADSL) and Report the First Case from Iran
united prime
American journal of Surgery and Clinical case Reports, 2021
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Adenylosuccinate lyase deficiency: The first identified polish patient
Elzbieta Jurkiewicz
Brain and Development, 2007
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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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