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Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
Kishnani PS, Goldstein J, Austin SL, Arn P, Bachrach B, Bali DS, Chung WK, El-Gharbawy A, Brown LM, Kahler S, Pendyal S, Ross KM, Tsilianidis L, Weinstein DA, Watson MS; ACMG Work Group on Diagnosis and Management of Glycogen Storage Diseases Type VI and IX. Kishnani PS, et al. Among authors: pendyal s. Genet Med. 2019 Apr;21(4):772-789. doi: 10.1038/s41436-018-0364-2. Epub 2019 Jan 19. Genet Med. 2019. PMID: 30659246 Free article.
A retrospective longitudinal study and comprehensive review of adult patients with glycogen storage disease type III.
Hijazi G, Paschall A, Young SP, Smith B, Case LE, Boggs T, Amarasekara S, Austin SL, Pendyal S, El-Gharbawy A, Deak KL, Muir AJ, Kishnani PS. Hijazi G, et al. Among authors: pendyal s. Mol Genet Metab Rep. 2021 Nov 11;29:100821. doi: 10.1016/j.ymgmr.2021.100821. eCollection 2021 Dec. Mol Genet Metab Rep. 2021. PMID: 34820282 Free PMC article.
Dietary lipids in glycogen storage disease type III: A systematic literature study, case studies, and future recommendations.
Rossi A, Hoogeveen IJ, Bastek VB, de Boer F, Montanari C, Meyer U, Maiorana A, Bordugo A, Dianin A, Campana C, Rigoldi M, Kishnani PS, Pendyal S, Strisciuglio P, Gasperini S, Parenti G, Parini R, Paci S, Melis D, Derks TGJ. Rossi A, et al. Among authors: pendyal s. J Inherit Metab Dis. 2020 Jul;43(4):770-777. doi: 10.1002/jimd.12224. Epub 2020 Feb 26. J Inherit Metab Dis. 2020. PMID: 32064649 Free PMC article.
18 results