(Q43218013)

16 November 2017

title

Genotype-phenotype correlation in primary hyperoxaluria type 1: the p.Gly170Arg AGXT mutation is associated with a better outcome (English)

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genotype-phenotype correlation

16 November 2017

main subject

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inferred from title

primary hyperoxaluria

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primary hyperoxaluria type I

inferred from title

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2

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16 November 2017

12

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16 November 2017

Daniel Abramowicz

9

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Marie-Alice Macher

8

object named as

Marie-Alice Macher

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Marie-France Gagnadoux

4

object named as

Marie-France Gagnadoux

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Jérôme Harambat

1

object named as

Jérôme Harambat

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author name string

Jérôme Harambat

1

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16 November 2017

Cécile Acquaviva

3

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16 November 2017

Marie-France Gagnadoux

4

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16 November 2017

Françoise Janssen

5

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16 November 2017

Aurélia Liutkus

6

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16 November 2017

Chebl Mourani

7

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16 November 2017

Marie-Alice Macher

8

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16 November 2017

Christophe Legendre

10

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16 November 2017

Antoine Durrbach

11

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16 November 2017

Hubert Nivet

13

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16 November 2017

Eric Girardin

14

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16 November 2017

Anne-Marie Schott

15

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16 November 2017

Marie-Odile Rolland

16

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16 November 2017

Pierre Cochat

17

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16 November 2017

language of work or name

English

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publication date

16 December 2009

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16 November 2017

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16 November 2017

volume

77

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16 November 2017

issue

5

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16 November 2017

page(s)

443-449

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Peroxisomal alanine:glyoxylate aminotransferase deficiency in primary hyperoxaluria type I

16 November 2017

cites work

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.435

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.435

7 January 2021

Changing pattern of primary hyperoxaluria in Switzerland

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.435

7 January 2021

Primary hyperoxaluria type 1 in The Netherlands: prevalence and outcome

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.435

7 January 2021

Primary hyperoxaluria type 1: still challenging!

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.435

7 January 2021

The primary hyperoxalurias

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.435

7 January 2021

Primary hyperoxaluria type 1: genotypic and phenotypic heterogeneity

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.435

7 January 2021

The primary hyperoxalurias: an algorithm for diagnosis

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.435

7 January 2021

An overview of the role of genotyping in the diagnosis of the primary hyperoxalurias

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.435

7 January 2021

International registry for primary hyperoxaluria

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.435

7 January 2021

A United States survey on diagnosis, treatment, and outcome of primary hyperoxaluria

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.435

7 January 2021

Presentation and role of transplantation in adult patients with type 1 primary hyperoxaluria and the I244T AGXT mutation: Single-center experience

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.435

7 January 2021

Liver transplantation in primary hyperoxaluria type 1

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.435

7 January 2021

Clinical value of crystalluria and quantitative morphoconstitutional analysis of urinary calculi

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.435

7 January 2021

Peculiar morphology of stones in primary hyperoxaluria

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.435

7 January 2021

Primary hyperoxaluria in infants: medical, ethical, and economic issues

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.435

7 January 2021

One hundred percent patient and kidney allograft survival with simultaneous liver and kidney transplantation in infants with primary hyperoxaluria: a single-center experience

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.435

7 January 2021

Oxalate balance studies in patients on hemodialysis for type I primary hyperoxaluria

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.435

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.435

7 January 2021

Primary hyperoxaluria type I.

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.435

7 January 2021

Results of long-term treatment with orthophosphate and pyridoxine in patients with primary hyperoxaluria

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.435

7 January 2021

Efficacy of oral citrate administration in primary hyperoxaluria

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.435

7 January 2021

Effect of conservative treatment on the renal outcome of children with primary hyperoxaluria type 1.

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.435

7 January 2021

Pyridoxine effect in type I primary hyperoxaluria is associated with the most common mutant allele

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.435

7 January 2021

Clinical implications of mutation analysis in primary hyperoxaluria type 1.

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.435

7 January 2021

Molecular Insight into the Synergism between the Minor Allele of Human Liver Peroxisomal Alanine:Glyoxylate Aminotransferase and the F152I Mutation

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.435

7 January 2021

Primary hyperoxaluria type 1: is genotyping clinically helpful?

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.435

7 January 2021

Is there a genotype-phenotype correlation in primary hyperoxaluria type 1?

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.435

7 January 2021

Kidney transplantation in primary oxalosis: data from the EDTA Registry

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.435

7 January 2021

Renal allograft survival in patients with oxalosis

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.435

7 January 2021

The use of plasma creatinine concentration for estimating glomerular filtration rate in infants, children, and adolescents

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.435

7 January 2021

Prediction of creatinine clearance from serum creatinine

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.435

7 January 2021

National Kidney Foundation's Kidney Disease Outcomes Quality Initiative clinical practice guidelines for chronic kidney disease in children and adolescents: evaluation, classification, and stratification

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.435

7 January 2021

Identifiers

DOI

10.1038/KI.2009.435

1 reference

16 November 2017

1 reference