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Title: | Clinical practice guidelines for glycogen storage disease V & VII (McArdle disease and Tarui disease) from an international study group |
Authors: | Lucia, A Martinuzzi, A Nogales-Gadea, G Quinlivan, R Reason, S Bali, D Godfrey, R Haller, R Kishnani, P Laforêt, P Løkken, N Musumeci, O Santalla, A Tarnopolsky, M Toscano, A Vissing, J Voermans, N Wakelin, A |
Keywords: | McArdle;Tarui;myophosphorylase;phosphofructokinase;glycogen;clinical practice guidelines |
Issue Date: | 28-Oct-2021 |
Publisher: | Elsevier |
Citation: | Lucia, A. et al. on behalf of the International Association for Muscle Glycogen Storage Disease study group (2021) 'Clinical practice guidelines for glycogen storage disease V & VII (McArdle disease and Tarui disease) from an international study group', Neuromuscular Disorders, 31 (12), pp. 1296 - 1310. doi: 10.1016/j.nmd.2021.10.006. |
Abstract: | Highlights: • Management of physical activity intolerance in GSD V and GSD VII is nuanced and impacts activities of daily living (ADL). • Guidelines support clinicians in multiple disciplines across the continuum of care and lifespan of patients. • Overview of management, including guidance on physical activity, nutrition, pain, medical emergencies, and rehabilitation. • Considerations for general medical care, including established and emerging concomitant conditions, potential drug-disease interactions, surgery, and obstetrics. • Emerging issues and knowledge gaps are highlighted. |
Description: | Supplementary material is available online at https://www.sciencedirect.com/science/article/pii/S0960896621006878#sec0054 . |
URI: | https://bura.brunel.ac.uk/handle/2438/26674 |
DOI: | https://doi.org/10.1016/j.nmd.2021.10.006 |
ISSN: | 0960-8966 |
Other Identifiers: | ORCID iD: Andrea Martinuzzi https://orcid.org/0000-0002-0319-3579; Gisela Nogales-Gadea https://orcid.org/0000-0002-7414-212X; Stacey Reason https://orcid.org/0000-0002-6240-8365 ; Richard Godfrey https://orcid.org/0000-0003-3700-3603. |
Appears in Collections: | Dept of Life Sciences Research Papers |
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FullText.pdf | Copyright © 2021 The Author(s). Published by Elsevier B.V. This is an open access article under the CC BY-NC-ND license ( https://creativecommons.org/licenses/by-nc-nd/4.0/ ) | 1.24 MB | Adobe PDF | View/Open |
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