(Q42197023)

18 October 2017

title

Acute metabolic acidosis in a GLUT2-deficient patient with Fanconi-Bickel syndrome: new pathophysiology insights (English)

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18 October 2017

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Nilufar Mohebbi

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18 October 2017

2

Olivier Devuyst

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Isabelle Brocheriou

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object named as

Isabelle Brocheriou

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author name string

Fabrice Mihout

1

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18 October 2017

Albert Bensman

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18 October 2017

Isabelle Brocheriou

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18 October 2017

Christophe Ridel

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18 October 2017

Carsten A Wagner

6

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18 October 2017

Jean-Jacques Boffa

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18 October 2017

Emmanuelle Plaisier

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18 October 2017

Pierre Ronco

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18 October 2017

language of work or name

English

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publication date

1 September 2014

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Nephrology Dialysis Transplantation

18 October 2017

published in

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18 October 2017

volume

29 Suppl 4

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18 October 2017

page(s)

iv113-6

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Fanconi-Bickel syndrome--the original patient and his natural history, historical steps leading to the primary defect, and a review of the literature

18 October 2017

cites work

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https://api.crossref.org/works/10.1093%2FNDT%2FGFU018

Familial renal glucosuria and SGLT2: from a mendelian trait to a therapeutic target.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU018

The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU018

Loss of chloride channel ClC-5 impairs endocytosis by defective trafficking of megalin and cubilin in kidney proximal tubules

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU018

The calcineurin inhibitor FK506 (tacrolimus) is associated with transient metabolic acidosis and altered expression of renal acid-base transport proteins.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU018

GLUT2 mutations, translocation, and receptor function in diet sugar managing

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU018

Receptor-mediated endocytosis in renal proximal tubule

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU018

Hepatocyte nuclear factor 1 inactivation results in hepatic dysfunction, phenylketonuria, and renal Fanconi syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU018

Novel presentations of congenital hyperinsulinism due to mutations in the MODY genes: HNF1A and HNF4A.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU018

21 January 2018

Identifiers

DOI

10.1093/NDT/GFU018

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18 October 2017

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