Phenotype and genotype characterization of adenine phosphoribosyltransferase deficiency - Wikidata - awgldk - TriplyDB

Phenotype and genotype characterization of adenine phosphoribosyltransferase deficiency

Phenotype and genotype characterization of adenine phosphoribosyltransferase deficiency

http://www.wikidata.org/entity/Q28273050

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Recurrence of crystalline nephropathy after kidney transplantation in APRT deficiency and primary hyperoxaluria Do kidney stone formers have a kidney disease?Adenine phosphoribosyltransferase (APRT) deficiency: identification of a novel nonsense mutation Shedding light on the chemical diversity of ectopic calcifications in kidney tissues: diagnostic and research aspects Quantitative UPLC-MS/MS assay of urinary 2,8-dihydroxyadenine for diagnosis and management of adenine phosphoribosyltransferase deficiency Hereditary causes of kidney stones and chronic kidney disease An APRT mutation is strongly associated with and likely causative for 2,8-dihydroxyadenine urolithiasis in dogs.Comparison of mouse urinary metabolic profiles after exposure to the inflammatory stressors γ radiation and lipopolysaccharide.Recurrent 2,8-dihydroxyadenine nephropathy: a rare but preventable cause of renal allograft failure Kidney Disease in Adenine Phosphoribosyltransferase Deficiency.Adenine phosphoribosyltransferase deficiency in the United Kingdom: two novel mutations and a cross-sectional survey.Genetic determinants of urolithiasis.Xanthine oxido-reductase, free radicals and cardiovascular disease. A critical review.2,8-Dihydroxyadenine urolithiasis: a not so rare inborn error of purine metabolism.Primary disease recurrence—effects on paediatric renal transplantation outcomes.Adenine phosphoribosyltransferase deficiency as a rare cause of renal allograft dysfunction.Adenine phosphoribosyltransferase deficiency: an underdiagnosed cause of lithiasis and renal failure.Adenine phosphoribosyltransferase deficiency in children.Maternal uniparental disomy of chromosome 16 in a patient with adenine phosphoribosyltransferase deficiency.Early Recognition and Management of Rare Kidney Stone Disorders.Obstructive uropathy and severe acute kidney injury from renal calculi due to adenine phosphoribosyltransferase deficiency.Comparison of the effect of allopurinol and febuxostat on urinary 2,8-dihydroxyadenine excretion in patients with Adenine phosphoribosyltransferase deficiency (APRTd): A clinical trial.Quiz page May 2015: crystalline nephropathy in an identical twin.Adenine phosphoribosyltransferase deficiency as a cause of renal failure.Inborn errors of purine metabolism: clinical update and therapies.A Japanese boy with adenine phosphoribosyltransferase (APRT) deficiency caused by compound heterozygosity including a novel missense mutation in APRT gene.Genetic Causes of Kidney Stones and Kidney Failure Dihydroxyadenine crystal-induced nephropathy presenting with rapidly progressive renal failure

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P2860

Phenotype and genotype characterization of adenine phosphoribosyltransferase deficiency

http://www.wikidata.org/entity/Q28273050

description

2010 nî lūn-bûn

@nan

2010 թուականի Ապրիլին հրատարակուած գիտական յօդուած

@hyw

2010 թվականի ապրիլին հրատարակված գիտական հոդված

@hy

2010年の論文

@ja

2010年論文

@yue

2010年論文

@zh-hant

2010年論文

@zh-hk

2010年論文

@zh-mo

2010年論文

@zh-tw

2010年论文

@wuu

name

Phenotype and genotype characterization of adenine phosphoribosyltransferase deficiency

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Phenotype and genotype characterization of adenine phosphoribosyltransferase deficiency

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Phenotype and genotype characterization of adenine phosphoribosyltransferase deficiency

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type

label

Phenotype and genotype characterization of adenine phosphoribosyltransferase deficiency

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Phenotype and genotype characterization of adenine phosphoribosyltransferase deficiency

@en

Phenotype and genotype characterization of adenine phosphoribosyltransferase deficiency

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prefLabel

Phenotype and genotype characterization of adenine phosphoribosyltransferase deficiency

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Phenotype and genotype characterization of adenine phosphoribosyltransferase deficiency

@en

Phenotype and genotype characterization of adenine phosphoribosyltransferase deficiency

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P1433

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P1433

Journal of the American Society of Nephrology

P1476

Phenotype and genotype characterization of adenine phosphoribosyltransferase deficiency

@en

P2093

Albert Bensman

http://www.w3.org/2001/XMLSchema#string

Bertrand Knebelmann

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Cécile Dollinger

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Delphine Guillemot

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Guillaume Bollée

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Irène Ceballos-Picot

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Jérôme Harambat

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Lucile Boutaud

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Michel Daudon

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Patrice Deteix

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P2860

Human adenine phosphoribosyltransferase deficiency. Demonstration of a single mutant allele common to the Japanese

Human adenine phosphoribosyltransferase. Identification of allelic mutations at the nucleotide level as a cause of complete deficiency of the enzyme

Only three mutations account for almost all defective alleles causing adenine phosphoribosyltransferase deficiency in Japanese patients

Comparative anatomy of the human APRT gene and enzyme: nucleotide sequence divergence and conservation of a nonrandom CpG dinucleotide arrangement

A mutant allele common to the type I adenine phosphoribosyltransferase deficiency in Japanese subjects

Identification of a single missense mutation in the adenine phosphoribosyltransferase (APRT) gene from five Icelandic patients and a British patient

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

Crossovers within a short DNA sequence indicate a long evolutionary history of the APRT*J mutation

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

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

P304

679-88

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P31

scholarly article

P356

10.1681/ASN.2009080808

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P407

P433

4

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P478

21

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P50

Jérôme Harambat

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2010-04-01T00:00:00Z

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P5875

41424946

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P698

20150536

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P921

Adenine phosphoribosyltransferase deficiency

P932

2844298

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