2,8-Dihydroxyadenine lithiasis in a Japanese patient heterozygous at the adenine phosphoribosyltransferase locus (original) (raw)

Missense mutation in the adenine phosphoribosyltransferase gene causing 2, 8-dihydroxyadenine urolithiasis

Human Molecular Genetics, 1994

Adenine Phosphoribosyltransferase Deficiency

Clinical Journal of the American Society of Nephrology, 2012

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

View PDFchevron_right

Phenotype and Genotype Characterization of Adenine Phosphoribosyltransferase Deficiency

Jérôme Harambat, Albert Bensman

Journal of the American Society of Nephrology, 2010

View PDFchevron_right

Adenine phosphoribosyltransferase deficiency in children

Michel Daudon, Albert Bensman

Pediatric nephrology (Berlin, Germany), 2012

View PDFchevron_right

Two birds one stone-two rare cases of adenine phosphoribosyl transferase deficiency

Mahesha Vankalakunti

International Journal of Research in Medical Sciences, 2023

View PDFchevron_right

Adenine phosphoribosyltransferase (APRT) deficiency: identification of a novel nonsense mutation

Andrea Ghiroldi

BMC nephrology, 2014

View PDFchevron_right

Characterization of the biochemical basis of a complete deficiency of the adenine phosphoribosyl transferase (APRT)

W. Doppler

Human Genetics, 1981

View PDFchevron_right

Adenosine Deaminase Deficiency: Genotype-Phenotype Correlations Based on Expressed Activity of 29 Mutant Alleles

Francisco Arredondo

The American Journal of Human Genetics, 1998

View PDFchevron_right

Adenine phosphoribosyltransferase: A simple spectrophotometric assay and the incidence of mutation in the normal population

Lambro Johnson

Biochemical Genetics, 1977

View PDFchevron_right

Maternal uniparental disomy of chromosome 16 in a patient with adenine phosphoribosyltransferase deficiency

Michel Daudon, Vincent Morinière

Clinical Genetics, 2011

View PDFchevron_right

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

View PDFchevron_right

Genetic expression in partial adenosine deaminase deficiency. mRNA levels and protein turnover for the enzyme variants in human B-lymphoblast cell lines

J. Perignon

Journal of Biological Chemistry

View PDFchevron_right

Combined Adenine Phosphoribosyltransferase and N-acetylgalactosamine-6-sulfate Sulfatase Deficiency

Jay Tischfield

Molecular Genetics and Metabolism, 1999

View PDFchevron_right

Genetic heterogeneity in partial adenosine deaminase deficiency

F. Martiniuk, J. Perignon

Journal of Clinical Investigation, 1983

View PDFchevron_right

Adenylate deaminase deficiency in a mutant murine T cell lymphoma cell line

Richard Sabina

Journal of Biological Chemistry, 1990

View PDFchevron_right

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

View PDFchevron_right

Intrafamilial variability in the phenotypic expression of adenylosuccinate lyase deficiency: A report on three patients

Patrick Edery

American Journal of Medical Genetics, 2003

View PDFchevron_right

Purine reutilization and synthesis de novo in long-term human lymphocyte cell lines deficient in adenine phosphoribosyltransferase activity

Elaine Spector

Somatic cell genetics, 1978

View PDFchevron_right

A case of severe combined immunodeficiency caused by adenosine deaminase deficiency with a new mutation

Yildiz Camcioglu

Pediatrics & Neonatology, 2017

View PDFchevron_right

Adenylosuccinate lyase deficiency in a Malaysian patient, with novel adenylosuccinate lyase gene mutations

Meow-Keong Thong

Journal of Inherited Metabolic Disease, 2010

View PDFchevron_right

Mini Review From the Molecular Base to the Diagnostic Value of Adenosine Deaminase

Iraj Khodadadi

Avicenna Journal of Medical Biochemistry, 2014

View PDFchevron_right

Capillary Electrophoresis in Diagnosis and Monitoring of Adenosine Deaminase Deficiency

Filippo Carlucci

Clinical Chemistry, 2003

View PDFchevron_right

Clinical expression, genetics and therapy of adenosine deaminase (ADA) deficiency

Francisco Arredondo

Journal of Inherited Metabolic Disease, 1997

View PDFchevron_right

Human adenylosuccinate lyase (ADSL), cloning and characterization of full-length cDNA and its isoform, gene structure and molecular basis for ADSL deficiency in six patients

Blanka Stiburkova, Marie Zikanova

Human Molecular Genetics, 2000

View PDFchevron_right

Genetic instability at the adenine phosphoribosyltransferase locus in mouse L cells

Jay Tischfield

Molecular and cellular biology, 1982

View PDFchevron_right

Novel features in the evolution of adenylosuccinate lyase deficiency

Veronica Perez Gonzalez

European Journal of Paediatric Neurology, 2012

View PDFchevron_right

Molecular Basis for Paradoxical Carriers of Adenosine Deaminase (ADA) Deficiency That Show Extremely Low Levels of ADA Activity in Peripheral Blood Cells Without Immunodeficiency

Francisco Arredondo

The Journal of Immunology, 2001

View PDFchevron_right

Severe combined immune deficiency due to a homozygous 3.2-kb deletion spanning the promoter and first exon of the adenosine deaminase gene

Juul Wijnen

Nucleic Acids Research, 1987

View PDFchevron_right

Adenosine deaminase (ADA) deficiency due to deletion of the ADA gene promoter and first exon by homologous recombination between two Alu elements

Russel Kaufman

Journal of Clinical Investigation, 1988

View PDFchevron_right

Modulation of adenine nucleoside excretion and incorporation in adenosine deaminase deficient human lymphoma cells

Dennis Carson

Biochemical and Biophysical Research Communications, 1984

View PDFchevron_right

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

View PDFchevron_right

Adenosine deaminase (ADA) deficiency in cells derived from humans with severe combined immunodetficiency is due to an aberration of the ADA protein

D. Valerio

Nucleic Acids Research, 1984

View PDFchevron_right

Identification of a splice mutation at the adenine phosphoribosyltransferase locus in a German family

Birgit Gathof

Klinische Wochenschrift, 1991

View PDFchevron_right

2,8-Dihydroxyadenine lithiasis in a Japanese patient heterozygous at the adenine phosphoribosyltransferase locus (original) (raw)

Related papers