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How many forms of glycogen storage disease type I?
Veiga-da-Cunha M, Gerin I, Van Schaftingen E. Veiga-da-Cunha M, et al. Among authors: van schaftingen e. Eur J Pediatr. 2000 May;159(5):314-8. doi: 10.1007/s004310051279. Eur J Pediatr. 2000. PMID: 10834514 Review.
A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic.
Veiga-da-Cunha M, Gerin I, Chen YT, de Barsy T, de Lonlay P, Dionisi-Vici C, Fenske CD, Lee PJ, Leonard JV, Maire I, McConkie-Rosell A, Schweitzer S, Vikkula M, Van Schaftingen E. Veiga-da-Cunha M, et al. Among authors: van schaftingen e. Am J Hum Genet. 1998 Oct;63(4):976-83. doi: 10.1086/302068. Am J Hum Genet. 1998. PMID: 9758626 Free PMC article.
Treating neutropenia and neutrophil dysfunction in glycogen storage disease type Ib with an SGLT2 inhibitor.
Wortmann SB, Van Hove JLK, Derks TGJ, Chevalier N, Knight V, Koller A, Oussoren E, Mayr JA, van Spronsen FJ, Lagler FB, Gaughan S, Van Schaftingen E, Veiga-da-Cunha M. Wortmann SB, et al. Among authors: van hove jlk, van schaftingen e, van spronsen fj. Blood. 2020 Aug 27;136(9):1033-1043. doi: 10.1182/blood.2019004465. Blood. 2020. PMID: 32294159 Free PMC article.
Inborn errors of metabolite repair.
Veiga-da-Cunha M, Van Schaftingen E, Bommer GT. Veiga-da-Cunha M, et al. Among authors: van schaftingen e. J Inherit Metab Dis. 2020 Jan;43(1):14-24. doi: 10.1002/jimd.12187. Epub 2019 Dec 29. J Inherit Metab Dis. 2020. PMID: 31691304 Free PMC article. Review.
262 results