Complex phenotype in Fanconi renotubular syndrome type 1: Hypophosphatemic rickets as the predominant presentation-Reference-Cited by-同舟云学术

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Complex phenotype in Fanconi renotubular syndrome type 1: Hypophosphatemic rickets as the predominant presentation

Published:2024-07 Issue: Volume:561 Page:119812
ISSN:0009-8981
Container-title:Clinica Chimica Acta
language:en
Short-container-title:Clinica Chimica Acta

Author:

Li Chang-ying^ORCID,Sun Yan,Guo Wen-cong,Jiang Wei-na,Zhou Wei,Chen Zeng-sheng,Zhang Yi-yin,Wang Zhi,Liu Xu-yan,Zhang Ran,Shao Le-ping

Funder

National Natural Science Foundation of China

Publisher

Elsevier BV

Reference22 articles.

1. Inherited Fanconi syndrome;Albuquerque;World J. Pediatr.,2023

2. Glycine amidinotransferase (GATM), renal Fanconi syndrome, and kidney failure;Reichold;J. Am. Soc. Nephrol.,2018

3. A loss-of-function mutation in NaPi-IIa and renal Fanconi's syndrome;Magen;N. Engl. J. Med.,2010

4. Mistargeting of peroxisomal EHHADH and inherited renal Fanconi's syndrome;Klootwijk;N. Engl. J. Med.,2014

5. Novel presentations of congenital hyperinsulinism due to mutations in the MODY genes: HNF1A and HNF4A;Stanescu;J. Clin. Endocrinol. Metab.,2012

Cited by 1 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Reduced guanidinoacetate in plasma of patients with autosomal dominant Fanconi syndrome due to heterozygous P341L GATM variant and study of organoids towards treatment;JIMD Reports;2024-08-19

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