(Q44394127)

2 December 2017

title

Adenine phosphoribosyltransferase deficiency in children (English)

1 reference

adenine phosphoribosyltransferase deficiency

2 December 2017

main subject

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author name string

Jérôme Harambat

1

1 reference

2 December 2017

Guillaume Bollée

2

1 reference

2 December 2017

Michel Daudon

3

1 reference

2 December 2017

Irène Ceballos-Picot

4

1 reference

2 December 2017

Albert Bensman

5

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2 December 2017

APRT Study Group

6

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2 December 2017

publication date

3 January 2012

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2 December 2017

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2 December 2017

volume

27

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2 December 2017

issue

4

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2 December 2017

page(s)

571-579

1 reference

https://scigraph.springernature.com/pub.10.1007/s00467-011-2037-0

2 December 2017

exact match

0 references

cites work

Gout, uric acid and purine metabolism in paediatric nephrology

1 reference

https://api.crossref.org/works/10.1007%2FS00467-011-2037-0

Phenotype and genotype characterization of adenine phosphoribosyltransferase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-011-2037-0

Crystalline nephropathy due to 2,8-dihydroxyadeninuria: an under-recognized cause of irreversible renal failure

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-011-2037-0

Decreased kidney function and crystal deposition in the tubules after kidney transplant

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-011-2037-0

Clinical features and genotype of adenine phosphoribosyltransferase deficiency in iceland.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-011-2037-0

Complete deficiency of adenine phosphoribosyltransferase: a third case presenting as renal stones in a young child

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-011-2037-0

2,8-Dihydroxyadenine urolithiasis in a patient with considerable residual adenine phosphoribosyltransferase activity in cell extracts but with mutations in both copies of APRT.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-011-2037-0

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-011-2037-0

A simple estimate of glomerular filtration rate in full-term infants during the first year of life

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-011-2037-0

New equations to estimate GFR in children with CKD

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-011-2037-0

Expressing the Modification of Diet in Renal Disease Study equation for estimating glomerular filtration rate with standardized serum creatinine values

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-011-2037-0

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-011-2037-0

The oesophagus and chest pain

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-011-2037-0

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-011-2037-0

Assignment of the gene for adenine phosphoribosyltransferase to human chromosome 16 by mouse-human somatic cell hybridization

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-011-2037-0

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-011-2037-0

Genetic and clinical studies on 19 families with adenine phosphoribosyltransferase deficiencies

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-011-2037-0

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-011-2037-0

Aprt/Opn double knockout mice: osteopontin is a modifier of kidney stone disease severity

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-011-2037-0

Adenine phosphoribosyltransferase-deficient mice develop 2,8-dihydroxyadenine nephrolithiasis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-011-2037-0

Sequential analysis of kidney stone formation in the Aprt knockout mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-011-2037-0

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

21 January 2018

1 reference

12 December 2020

Family study of 2,8-dihydroxyadenine stone formation: report of two cases of a compound heterozygote for adenine phosphoribosyltransferase deficiency (APRT*J/APRT*Q0)

1 reference

12 December 2020

Clinical value of crystalluria and quantitative morphoconstitutional analysis of urinary calculi

1 reference

12 December 2020

Renal failure due to 2,8-dihydroxyadenine urolithiasis

1 reference

12 December 2020

2,8-Dihydroxyadenine urolithiasis, an underdiagnosed disease

1 reference

12 December 2020

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

1 reference

12 December 2020

Two families with compound heterozygosity for adenine phosphoribosyltransferase deficiency

1 reference

12 December 2020

Complete deficiency of adenine phosphoribosyltransferase. Report of a family

1 reference

12 December 2020

Four consecutive renal transplantations in a patient with adenine phosphoribosyltransferase deficiency.

1 reference

12 December 2020

10.1007/S00467-011-2037-0

Identifiers

DOI

1 reference

2 December 2017

1 reference