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. 2023 Aug;38(8):2613-2614.
doi: 10.1007/s00467-023-05952-8. Epub 2023 Mar 30.

An uncommon cause of hypophosphatemic rickets: Answers

Affiliations

An uncommon cause of hypophosphatemic rickets: Answers

Mustafa Koyun et al. Pediatr Nephrol. 2023 Aug.
No abstract available

Keywords: FRTS1; GATM mutation; Hypophosphatemic rickets; Proximal tubular dysfunction; Renal Fanconi syndrome.

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References

    1. Foreman JW (2019) Fanconi Syndrome. Pediatr Clin N Am 66:159–167 - DOI
    1. Igarashi T, Emma F, Hayes W (2022) Pediatric Fanconi Syndrome. In: Emma F (ed) Pediatric Nephrology, 8th edn. Springer Nature, Cham, pp 849–876
    1. Reichold M, Klootwijk ED, Reinders J, Otto EA, Milani M, Broeker C, Laing C, Wiesner J, Devi S, Zhou W, Schmitt R, Tegtmeier I, Sterner C, Doellerer H, Renner K, Oefner PJ, Dettmer K, Simbuerger JM, Witzgall R, Stanescu HC, Dumitriu S, Iancu D, Patel V, Mozere M, Tekman M, Jaureguiberry G, Issler N, Kesselheim A, Walsh SB, Gale DP, Howie AJ, Martins JR, Hall AM, Kasgharian M, O'Brien K, Ferreira CR, Atwal PS, Jain M, Hammers A, Charles-Edwards G, Choe CU, Isbrandt D, Cebrian-Serrano A, Davies B, Sandford RN, Pugh C, Konecki DS, Povey S, Bockenhauer D, Lichter-Konecki U, Gahl WA, Unwin RJ, Warth R, Kleta R (2018) Glycine amidinotransferase (GATM), renal Fanconi syndrome, and kidney failure. J Am Soc Nephrol 29:1849–1858
    1. Lemaire M (2021) Novel Fanconi renotubular syndromes provide insights in proximal tubule pathophysiology. Am J Physiol Renal Physiol 320:F145–F160 - DOI - PubMed
    1. Forst A-L, Reichold M, Kleta R, Warth R (2021) Distinct mitochondrial pathologies caused by mutations of the proximal tubular enzymes EHHADH and GATM. Front Physiol 12:715485 - DOI - PubMed - PMC

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