Phenotype and genotype characterization of adenine phosphoribosyltransferase deficiency (Q28273050)

1

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Cécile Dollinger

2

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Lucile Boutaud

3

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Delphine Guillemot

4

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Albert Bensman

5

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Jérôme Harambat

6

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Patrice Deteix

7

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Michel Daudon

8

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Bertrand Knebelmann

9

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Irène Ceballos-Picot

Journal of the American Society of Nephrology

10

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language of work or name

English

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publication date

April 2010

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published in

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volume

21

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issue

4

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page(s)

679-88

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cites work

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

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

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

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Hypoxanthine-guanine phosphoribosyl transferase regulates early developmental programming of dopamine neurons: implications for Lesch-Nyhan disease pathogenesis

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ESRD caused by nephrolithiasis: prevalence, mechanisms, and prevention

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12 December 2020

Clinical value of crystalluria and quantitative morphoconstitutional analysis of urinary calculi

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12 December 2020

Purine phosphoribosyltransferase activity of human erythrocytes. Technic of determination

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12 December 2020

Correlation between adenylate metabolizing enzymes and adenine nucleotide levels of erythrocytes during blood storage in various media

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12 December 2020

Adenine and adenosine metabolism in intact erythrocytes deficient in adenosine monophosphate-pyrophosphate phosphoribosyltransferase: a study of two families

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12 December 2020

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

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12 December 2020

2,8-Dihydroxyadeninuria: laboratory diagnosis and therapy control

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12 December 2020

Identification of a compound heterozygote for adenine phosphoribosyltransferase deficiency (APRT*J/APART*Q0) leading to 2,8-dihydroxyadenine urolithiasis

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12 December 2020

2,8-Dihydroxyadenine urolithiasis, an underdiagnosed disease

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12 December 2020

2,8-Dihydroxyadenine urolithiasis

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12 December 2020

The restriction enzyme Mse I applied for the detection of a possibly common mutation of the APRT locus

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12 December 2020

Chronic renal failure secondary to 2,8-dihydroxyadenine deposition: the first report of recurrence in a kidney transplant

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12 December 2020

Human APRT deficiency: indication for multiple origins of the most common Caucasian mutation and detection of a novel type of mutation involving intrastrand-templated repair

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12 December 2020