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2015, Fourth edition., Oxford monographs on medical genetics, ISBN 9780199681488, Volume no. 67., ix, 308 pages
Book
Cochrane Database of Systematic Reviews, ISSN 1469-493X, 10/2018, Volume 2018, Issue 10, pp. CD009068 - CD009068
Journal Article
European Heart Journal, ISSN 0195-668X, 01/2019, Volume 40, Issue 4, pp. 397 - 398
Journal Article
Human molecular genetics, ISSN 0964-6906, 04/2019, Volume 28, Issue 16, pp. 2711 - 2719
Mitochondrial disorders are clinically and genetically heterogeneous, and are associated with a variety of disease mechanisms. Defects of mitochondrial protein... 
Index Medicus
Journal Article
Journal of Neurology, Neurosurgery and Psychiatry, ISSN 0022-3050, 2014, Volume 85, Issue 3, pp. 345 - 353
Journal Article
Journal Article
Cochrane Database of Systematic Reviews, ISSN 1469-493X, 01/2017, Volume 2017, Issue 1, pp. CD010899 - CD010899
Journal Article
Cochrane database of systematic reviews (Online), ISSN 1469-493X, 2011, Volume 12, Issue 12, pp. CD007931 - CD007931
Background McArdle disease is a rare metabolic myopathy caused by a complete absence of the enzyme muscle glycogen phosphorylase. Affected people experience... 
MYOPHOSPHORYLASE DEFICIENCY | ALLELE | WOMEN | MEDICINE, GENERAL & INTERNAL | IMPROVED EXERCISE CAPACITY | GENE | TOLERANCE | PHENOTYPE | MUTATIONS | OXIDATIVE-METABOLISM | Glycogen Storage Disease Type V - physiopathology | Exercise | Glycogen Storage Disease Type V - rehabilitation | Humans | Index Medicus
Journal Article
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