Author:
Derks Terry G. J.,Lubout Charlotte M. A.,Woidy Mathias,Santer René
Publisher
Springer International Publishing
Reference37 articles.
1. Berry GT, Walter J, Fridovich-Keil JL. Disorders of galactose metabolism. In: Saudubray JM, Baumgartner M, Walter JH, editors. Inborn metabolic diseases: diagnosis and treatment. 6th ed. Heidelberg: Springer-Verlag; 2016. p. 139–48.
2. Bianchi P, Fermo E, Glader B, Kanno H, Agarwal A, Barcellini W, et al. Addressing the diagnostic gaps in pyruvate kinase deficiency: consensus recommendations on the diagnosis of pyruvate kinase deficiency. Am J Hematol. 2019;94:149–61.
3. Chen YT. Glycogen storage diseases. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular bases of inherited disease. New York: McGraw-Hill; 2001. p. 1521–51.
4. Coady MJ, El Tarazi A, Santer R, Bissonnette P, Sasseville LJ, Calado J, et al. MAP17 is a necessary activator of renal Na+/glucose cotransporter SGLT2. J Am Soc Nephrol. 2016;28:85–93.
5. Cortese A, Zhu Y, Rebelo AP, Negri S, Courel S, Abreu L, et al. Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes. Nat Genet. 2020;52:473–81.