Glycogen Storage Disease (GSD)
Author:
Publisher
Springer International Publishing
Link
https://link.springer.com/content/pdf/10.1007/978-3-319-66816-1_1751-1
Reference11 articles.
1. Fernandes SA, Cooper GE, Gibson RA, Kishnani PS (2020) Benign or not benign? Deep phenotyping of liver glycogen storage disease IX. Mol Genet Metab 131(3):299–305
2. Forsha D, Li JS, Smith PB, van der Ploeg AT, Kishnani P (2011) Pasquali SK; late-onset treatment study investigators. Cardiovascular abnormalities in late-onset Pompe disease and response to enzyme replacement therapy. Genet Med 13(7):625–631
3. Grünert SC, Hannibal L, Spiekerkoetter U (2021) The phenotypic and genetic Spectrum of glycogen storage disease type VI. Genes (Basel) 12(8):1205
4. 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 (2019) Watson MS; ACMG work group on diagnosis and Management of Glycogen Storage Diseases Type VI and IX. 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). Genet Med 21(4):772–789
5. Monteiro VCL, de Oliveira BM, Dos Santos BB, Sperb-Ludwig F, Refosco LF, Nalin T, Derks TGJ, Moura de Souza CF, IVD S (2021) A triple-blinded crossover study to evaluate the short-term safety of sweet manioc starch for the treatment of glycogen storage disease type Ia. Orphanet J Rare Dis 16(1):254
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