Acute metabolic acidosis in a GLUT2-deficient patient with Fanconi-Bickel syndrome: new pathophysiology insights-Reference-Cited by-同舟云学术

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

Published:2014-08-27 Issue:suppl 4 Volume:29 Page:iv113-iv116
ISSN:0931-0509
Container-title:Nephrology Dialysis Transplantation
language:en
Short-container-title:Nephrology Dialysis Transplantation

Author:

Mihout F.,Devuyst O.,Bensman A.,Brocheriou I.,Ridel C.,Wagner C. A.,Mohebbi N.,Boffa J.-J.,Plaisier E.,Ronco P.

Publisher

Oxford University Press (OUP)

Subject

Transplantation,Nephrology

Link

http://academic.oup.com/ndt/article-pdf/29/suppl_4/iv113/7638205/gfu018.pdf

Reference10 articles.

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

2. Familial Renal Glucosuria and SGLT2: From a Mendelian Trait to a Therapeutic Target

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

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

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

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1. Clinical, genetic profile and therapy evaluation of 11 Chinese pediatric patients with Fanconi-Bickel syndrome;Orphanet Journal of Rare Diseases;2024-02-16

2. Fanconi-Bickel Syndrome: A Rare Etiology of Hypophosphatemic Rickets;Paediatric Nephrology Journal of Bangladesh;2024-01

3. Clinical, genetic profile and therapy evaluation of 11 Chinese paediatric patients with Fanconi-Bickel syndrome;2023-11-07

4. The SGLT2 inhibitor dapagliflozin improves kidney function in glycogen storage disease XI;Science Translational Medicine;2023-11

5. The glucose transporter 2 regulates CD8+ T cell function via environment sensing;Nature Metabolism;2023-10-26

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