Nephrolithiasis related to inborn metabolic diseases (Q24641862)

2

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Justine Bacchetta

3

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Laurence Dubourg

4

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Jean-François Sabot

5

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Christine Saban

6

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Michel Daudon

7

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Aurélia Liutkus

Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome

8

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language of work or name

English

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publication date

March 2010

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1 March 2010

2 references

22 April 2019

29 May 2020

2 references

22 April 2019

29 May 2020

25

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issue

3

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page(s)

415-24

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cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810370

Identification of two mutations in human xanthine dehydrogenase gene responsible for classical type I xanthinuria

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810370

Cystine crystal volume determination: a useful tool in the management of cystinuric patients

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810370

Hyperoxaluria and systemic oxalosis: current therapy and future directions

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810370

Primary hyperoxaluria type 1: still challenging!

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810370

Cystinuria and other noncalcareous calculi

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810370

Decreased urinary citrate excretion in type 1a glycogen storage disease

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810370

27 September 2017

Treatment of cystinuria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810370

Citrate excretion: a window on renal metabolism

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810370

Mechanism for calcium urolithiasis among patients with hyperuricosuria: supersaturation of urine with respect to monosodium urate

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810370

Inherited superactivity of phosphoribosylpyrophosphate synthetase: association of uric acid overproduction and sensorineural deafness.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810370

BK virus-associated renal problems--clinical implications

30 May 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00467-008-1085-6

Novel HGPRT 293 A>G point mutation presenting as neonatal acute renal failure

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810370

Global distribution of the most prevalent deletions causing hypotonia-cystinuria syndrome

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810370

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.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810370

Transient neonatal cystinuria

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810370

Evaluation of mutation screening as a first line test for the diagnosis of the primary hyperoxalurias.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810370

Clinical implications of mutation analysis in primary hyperoxaluria type 1.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810370

Neonatal nephrocalcinosis in association with glucose-galactose malabsorption

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810370

Comparison between SLC3A1 and SLC7A9 cystinuria patients and carriers: a need for a new classification.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810370

Primary hyperoxaluria type 2 in children

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810370

Primary hyperoxaluria type 2 without L-glycericaciduria: is the disease under-diagnosed?

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810370

Clinical value of crystalluria and quantitative morphoconstitutional analysis of urinary calculi

28 November 2018

1 reference

12 December 2020

Natural urinary macromolecular inhibitors: attenuation of inhibitory activity by urate salts

1 reference

12 December 2020

Xanthine-containing calculi during allopurinol therapy

1 reference

12 December 2020

Effect of pH on citrate reabsorption in the proximal convoluted tubule

1 reference

12 December 2020

Epidemiology of primary hyperoxaluria type 1. Société de Néphrologie and the Société de Néphrologie Pédiatrique

1 reference

12 December 2020

Hyper-echogenic colon: a prenatal sign of cystinuria?

1 reference

12 December 2020

Efficacy and safety of allopurinol in patients with hypoxanthine-guanine phosphoribosyltransferase deficiency

1 reference

12 December 2020

Cystinuria in children and young adults: success of monitoring free-cystine urine levels

1 reference

12 December 2020

Nephrocalcinosis and medullary cysts in 3-methylglutaconic aciduria

1 reference

12 December 2020

10.1007/S00467-008-1085-6

Identifiers

DOI

1 reference

Dimensions Publication ID

1028672397

0 references

1 reference

1 reference

PubMed publication ID

19156444

1 reference