De novo HNF4A-associated atypical Fanconi renal tubulopathy syndrome-Reference-Cited by-同舟云学术

De novo HNF4A-associated atypical Fanconi renal tubulopathy syndrome

Published:2023-06-13 Issue: Volume: Page:
ISSN:1724-6059
Container-title:Journal of Nephrology
language:en
Short-container-title:J Nephrol

Author:

Hudson Rebecca,Abeysekera Natasha,Wolski Penny,Simons Cas,Francis Leo,Farnsworth Elizabeth,Bennetts Bruce,Patel Chirag,Spijker Siebe,Mallett Andrew^ORCID

Funder

National Health and Medical Research Council

Royal Brisbane and Women's Hospital Foundation

James Cook University

Publisher

Springer Science and Business Media LLC

Subject

Nephrology

Link

https://link.springer.com/content/pdf/10.1007/s40620-023-01666-0.pdf

Reference16 articles.

1. Kapoor RR, Locke J, Colclough K et al (2008) Persistent hyperinsulinemic hypoglycemia and maturity-onset diabetes of the young due to heterozygous HNF4A mutations. Diabetes 57:1659–1663

2. Flanagan SE, Kapoor RR, Mali G et al (2010) Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations. Eur J Endocrinol 162:987–992

3. Yamagata K, Furuta H, Oda N et al (1996) Mutations in the hepatocyte nuclear factor-4alpha gene in maturity-onset diabetes of the young (MODY1). Nature 384:458–460

4. Lemaire M (2021) Novel Fanconi renotubular syndromes provide insights in proximal tubule pathophysiology. Am J Physiol Renal Physiol 320:F145–F160

5. Liu J, Shen Q, Li G et al (2018) HNF4A-related Fanconi syndrome in a Chinese patient: a case report and review of the literature. J Med Case Rep 12:203

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