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Glycogen Storage Disease type IA refractory to cornstarch: Can next generation sequencing offer a solution?
Steg Saban O, Pode-Shakked B, Abu-Libdeh B, Granot M, Barkai G, Haberman Y, Roterman I, Lahad A, Shouval DS, Weiss B, Marek-Yagel D, Barel O, Loberman-Nachum N, Abraham S, Somech R, Weinstein DA, Anikster Y. Steg Saban O, et al. Among authors: weinstein da. Eur J Med Genet. 2022 Jun;65(6):104518. doi: 10.1016/j.ejmg.2022.104518. Epub 2022 May 9. Eur J Med Genet. 2022. PMID: 35550444
Ketotic hypoglycemia in patients with Down syndrome.
Drachmann D, Carrigg A, Weinstein DA, Petersen JS, Christesen HT. Drachmann D, et al. Among authors: weinstein da. JIMD Rep. 2021 Jul 28;62(1):70-73. doi: 10.1002/jmd2.12241. eCollection 2021 Nov. JIMD Rep. 2021. PMID: 34765400 Free PMC article.
Towards enhanced understanding of idiopathic ketotic hypoglycemia: a literature review and introduction of the patient organization, Ketotic Hypoglycemia International.
Drachmann D, Hoffmann E, Carrigg A, Davis-Yates B, Weaver V, Thornton P, Weinstein DA, Petersen JS, Shah P, Christesen HT. Drachmann D, et al. Among authors: weinstein da. Orphanet J Rare Dis. 2021 Apr 13;16(1):173. doi: 10.1186/s13023-021-01797-2. Orphanet J Rare Dis. 2021. PMID: 33849624 Free PMC article. Review.
109 results