Fanconi-Bickel syndrome complicated by nephrocalcinosis and GFR decline
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Publisher
Springer Science and Business Media LLC
Link
https://link.springer.com/content/pdf/10.1007/s00467-024-06388-4.pdf
Reference13 articles.
1. Batool H, Zubaida B, Hashmi MA, Naeem M (2019) Genetic testing of two Pakistani patients affected with rare autosomal recessive Fanconi-Bickel syndrome and identification of a novel SLC2A2 splice site variant. J Pediatr Endocrinol Metab 32:1229–1233
2. Pott V, Tietze H, Kanzelmeyer N, von der Born J, Baumann U, Mindermann C, Suhlrie A, Drube J, Melk A, Das AM (2024) LMS-based pediatric reference values for parameters of phosphate homeostasis in the HARP cohort. J Clin Endocrinol Metab 109:668–679
3. Mannstadt M, Magen D, Segawa H, Stanley T, Sharma A, Sasaki S, Bergwitz C, Mounien L, Boepple P, Thorens B (2012) Fanconi-Bickel syndrome and autosomal recessive proximal tubulopathy with hypercalciuria (ARPTH) are allelic variants caused by GLUT2 mutations. J Clin Endocrinol Metab 97:E1978–E1986
4. Kędzierska K, Kwiatkowski S, Torbé A, Marchelek-Myśliwiec M, Marcinkiewicz O, Bobrek-Lesiakowska K, Gołembiewska E, Kwiatkowska E, Rzepka R, Ciechanowski K (2011) Successful pregnancy in the patient with Fanconi-Bickel syndrome undergoing daily hemodialysis. Am J Med Genet Part A 155:2028
5. Grünert SC, Schumann A, Baronio F, Tsiakas K, Murko S, Spiekerkoetter U, Santer R (2021) Evidence for a genotype–phenotype correlation in patients with pathogenic GLUT2 (SLC2A2) variants. Genes 12:1785
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