Tubulopathy and hepatomegaly in a 2-year-old boy: Answers
- 25 January 2021
- journal article
- editorial
- Published by Springer Science and Business Media LLC in Pediatric Nephrology
- Vol. 36 (7), 1-2
- https://doi.org/10.1007/s00467-021-04933-z
Abstract
No abstract availableKeywords
This publication has 6 references indexed in Scilit:
- A fanconi-bickel syndrome patient with a novel mutation and accompanying situs inversus totalisThe Turkish Journal of Pediatrics, 2017
- An Indian girl with Fanconi-Bickel syndrome without SLC2A2 gene mutationJournal of Pediatric Genetics, 2015
- Phenotypic Variability in Patients with Fanconi–Bickel Syndrome with Identical MutationsPublished by Springer Science and Business Media LLC ,2014
- Fanconi–Bickel syndrome: GLUT2 mutations associated with a mild phenotypeMolecular Genetics and Metabolism, 2011
- The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndromeHuman Genetics, 2001
- [Chronic aminoaciduria (amino acid diabetes or nephrotic-glucosuric dwarfism) in glycogen storage and cystine disease].1949