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Leigh syndrome in a patient with a novel C12orf65 pathogenic variant: case report and literature review.
Genet Mol Biol. 2020 May 29;43(2):e20180271. doi: 10.1590/1678-4685-GMB-2018-0271. eCollection 2020.
Genet Mol Biol. 2020.
PMID: 32478789
Free PMC article.
Effects of Exercise Training on Functional Capacity and Quality of Life in a Patient with Late-Onset Pompe Disease Receiving Enzyme Replacement Therapy.
Silva RM, Mendes CS, Aranda CC, Curiati MA, Rand MH, Kyosen SO, Sakata ET, Canossa S, Oliveira RB, Martins AM.
Silva RM, et al.
J Neuromuscul Dis. 2015;2(s1):S33.
J Neuromuscul Dis. 2015.
PMID: 27858628
No abstract available.
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Effects of Aerobic Exercise Training in Late-Onset Pompe Disease Before and 1 Month after Enzyme Replacement Therapy.
Silva RM, Mendes CS, Aranda CC, Curiati MA, Rand MH, Kyosen SO, Sakata ET, Canossa S, Frangipani BJ, Martins AM.
Silva RM, et al.
J Neuromuscul Dis. 2015;2(s1):S32.
J Neuromuscul Dis. 2015.
PMID: 27858627
No abstract available.
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