Quinlivan, R;
Andreu, AL;
Marti, R;
(2017)
211th ENMC International Workshop: Development of diagnostic criteria and management strategies for McArdle Disease and related rare glycogenolytic disorders to improve standards of care. 17-19 April 2015, Naarden, The Netherlands.
Neuromuscular Disorders
, 27
(12)
pp. 1143-1151.
10.1016/j.nmd.2017.09.002.
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Abstract
Twenty participants, including one patient representative, from 9 countries (UK, Spain, France, Sweden, Finland, Denmark, Italy, Germany and USA) attended the workshop, the aims of which were to agree on the best practice strategies for diagnosis and management of McArdle disease (GSDV) and related rare glycolytic disorders of skeletal muscle.
| Type: | Article |
|---|---|
| Title: | 211th ENMC International Workshop: Development of diagnostic criteria and management strategies for McArdle Disease and related rare glycogenolytic disorders to improve standards of care. 17-19 April 2015, Naarden, The Netherlands |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1016/j.nmd.2017.09.002 |
| Publisher version: | https://doi.org/10.1016/j.nmd.2017.09.002 |
| Language: | English |
| Additional information: | This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions. |
| Keywords: | Glycogen Storage disease, McArdle disease, Phosphofructokinase deficiency, Polyglucosan body disease |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Department of Neuromuscular Diseases |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10064277 |
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