(Q36543042)

14 August 2017

Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies (English)

1 reference

14 August 2017

primary hyperoxaluria

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17

Gudrun Nürnberg

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Gökhan Yigit

18

object named as

Gökhan Yigit

0 references

Dorrit E. Jacob

14

object named as

Dorrit E Jacob

1 reference

14 August 2017

Bodo B Beck

1

1 reference

14 August 2017

Anne Baasner

2

1 reference

14 August 2017

Anja Buescher

3

1 reference

14 August 2017

Sandra Habbig

4

1 reference

14 August 2017

Nadine Reintjes

5

1 reference

14 August 2017

Markus J Kemper

6

1 reference

14 August 2017

Przemyslaw Sikora

7

1 reference

14 August 2017

Christoph Mache

8

1 reference

14 August 2017

Martin Pohl

9

1 reference

14 August 2017

Mirjam Stahl

10

1 reference

14 August 2017

Burkhard Toenshoff

11

1 reference

14 August 2017

Lars Pape

12

1 reference

14 August 2017

Henry Fehrenbach

13

1 reference

14 August 2017

Bernd Grohe

15

1 reference

14 August 2017

Matthias T Wolf

16

1 reference

14 August 2017

Eduardo C Salido

19

1 reference

14 August 2017

Bernd Hoppe

20

1 reference

14 August 2017

11 July 2012

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European Journal of Human Genetics

14 August 2017

1 reference

14 August 2017

21

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14 August 2017

2

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14 August 2017

162-172

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Structural and biochemical studies of human 4-hydroxy-2-oxoglutarate aldolase: implications for hydroxyproline metabolism in primary hyperoxaluria

14 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548260

Primary hyperoxaluria type III gene HOGA1 (formerly DHDPSL) as a possible risk factor for idiopathic calcium oxalate urolithiasis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548260

Hyperoxaluria: a gut-kidney axis?

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548260

Mutations in DHDPSL Are Responsible For Primary Hyperoxaluria Type III

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548260

MutationTaster evaluates disease-causing potential of sequence alterations

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548260

A method and server for predicting damaging missense mutations

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548260

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548260

Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548260

Hydroxyproline ingestion and urinary oxalate and glycolate excretion.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548260

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548260

The gene encoding hydroxypyruvate reductase (GRHPR) is mutated in patients with primary hyperoxaluria type II

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548260

End-stage renal disease of the Tunisian child: epidemiology, etiologies, and outcome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548260

The crystal structure of dihydrodipicolinate synthase from Escherichia coli at 2.5 A resolution

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548260

Peroxisomal alanine:glyoxylate aminotransferase deficiency in primary hyperoxaluria type I

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548260

Simultaneous determination of oxalate, citrate and sulfate in children's plasma with ion chromatography.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548260

Transplantation procedures in children with primary hyperoxaluria type 1: outcome and longitudinal growth

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548260

A 20-year experience of combined liver/kidney transplantation for primary hyperoxaluria (PH1): the European PH1 transplant registry experience 1984-2004.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548260

Control of oxalate formation from L-hydroxyproline in liver mitochondria

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548260

Potential mechanisms of marked hyperoxaluria not due to primary hyperoxaluria I or II.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548260

The place of sirolimus in kidney transplantation: can we reduce calcineurin inhibitor renal toxicity?

21 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2012.139

Plasma calcium oxalate supersaturation in children with primary hyperoxaluria and end-stage renal failure

21 January 2018

1 reference

12 December 2020

Primary hyperoxaluria

1 reference

12 December 2020

Clearance and removal of oxalate in children on intensified dialysis for primary hyperoxaluria type 1

1 reference

12 December 2020

The primary hyperoxalurias

1 reference

12 December 2020

End-stage renal disease in Kuwaiti children: an 8-year experience

1 reference

12 December 2020

Oxalate elimination via hemodialysis or peritoneal dialysis in children with chronic renal failure

1 reference

12 December 2020

Identifiers

DOI

10.1038/EJHG.2012.139

1 reference

14 August 2017

1 reference

14 August 2017

PubMed publication ID

22781098

1 reference