Function, structure and quality of striated muscles in the lower extremities in patients with late onset Pompe Disease-an MRI study.
Clinical tests
Enzyme replacement therapy
Follow-up
Late Onset Pompe Disease
Muscle quality
Quantitative magnetic resonance imaging (mri)
Journal
PeerJ
ISSN: 2167-8359
Titre abrégé: PeerJ
Pays: United States
ID NLM: 101603425
Informations de publication
Date de publication:
2021
2021
Historique:
received:
07
09
2020
accepted:
20
01
2021
entrez:
17
5
2021
pubmed:
18
5
2021
medline:
18
5
2021
Statut:
epublish
Résumé
Pompe Disease (PD) is a rare inherited metabolic myopathy, caused by lysosomal- The present study evaluates muscle quality in 10 patients with LOPD receiving treatment with enzyme replacement therapy and in 10 age and gender matched healthy controls applying T Fat fraction of knee flexors (0.15 vs 0.07,
Sections du résumé
BACKGROUND
BACKGROUND
Pompe Disease (PD) is a rare inherited metabolic myopathy, caused by lysosomal-
METHODS
METHODS
The present study evaluates muscle quality in 10 patients with LOPD receiving treatment with enzyme replacement therapy and in 10 age and gender matched healthy controls applying T
RESULTS
RESULTS
Fat fraction of knee flexors (0.15 vs 0.07,
Identifiants
pubmed: 33996274
doi: 10.7717/peerj.10928
pii: 10928
pmc: PMC8106912
doi:
Types de publication
Journal Article
Langues
eng
Pagination
e10928Informations de copyright
©2021 Vaeggemose et al.
Déclaration de conflit d'intérêts
Henning Andersen has received research, travel support and speaker honoraria from Octapharma, CSL Behring, Novo, Alexion and Genzyme/Sanofi, and has also served as consultant on advisory board of NMDPharma within the last 5 years. John Vissing has received research and travel support and speaker honoraria from Genzyme/Sanofi, Ultragenyx Pharmaceuticals and aTyr Pharmaceutical, and served as consultant on advisory boards of Genzyme/Sanofi, aTyr pharmaceuticals, Ultragenyx Pharmaceuticals, Sarepta, NOVO Nordisk, Alexion Pharmaceuticals and Stealth Bio Therapeutics within the last 5 years. Julie Schjødtz Hansen reports having received research support, honoraria, and travel funding from Sanofi Genzyme.
Références
Curr Opin Neurol. 2016 Oct;29(5):614-20
pubmed: 27427989
Eur J Neurol. 2017 Jun;24(6):768-e31
pubmed: 28477382
J Inherit Metab Dis. 2020 May;43(3):549-557
pubmed: 31710733
J Pediatr. 2006 May;148(5):671-676
pubmed: 16737883
Neuromuscul Disord. 2016 Jul;26(7):414-22
pubmed: 27209345
Semin Musculoskelet Radiol. 2017 Sep;21(4):459-469
pubmed: 28772322
PLoS One. 2013 Aug 14;8(8):e70993
pubmed: 23967145
Muscle Nerve. 2020 Oct;62(4):541-549
pubmed: 32654203
PLoS One. 2016 Oct 6;11(10):e0163493
pubmed: 27711114
Eur J Appl Physiol. 2012 Jan;112(1):267-75
pubmed: 21537927
Neurology. 2019 Nov 5;93(19):e1756-e1767
pubmed: 31619483
Orphanet J Rare Dis. 2011 Jun 01;6:34
pubmed: 21631931
J Neuromuscul Dis. 2016 Mar 3;3(1):1-28
pubmed: 27854210
Eur Respir J. 1993 Mar;6 Suppl 16:5-40
pubmed: 24576915
Neuromuscul Disord. 2014 May;24(5):409-16
pubmed: 24613733
Mol Genet Metab. 2017 Mar;120(3):163-172
pubmed: 28185884
J Physiol. 1983 May;338:37-49
pubmed: 6875963
J Inherit Metab Dis. 2015 May;38(3):565-72
pubmed: 25749708
J Neurol. 2007 Jul;254(7):941-5
pubmed: 17351726
PLoS One. 2018 Jan 9;13(1):e0190784
pubmed: 29315315
Brain. 2005 Mar;128(Pt 3):671-7
pubmed: 15659425
Mol Genet Metab. 2016 Sep;119(1-2):115-23
pubmed: 27473031
Lancet Neurol. 2016 Jan;15(1):65-77
pubmed: 26549782
Neuromuscul Disord. 2012 Oct 1;22 Suppl 2:S54-67
pubmed: 22980769
Muscle Nerve. 2015 May;51(5):722-30
pubmed: 25155446
Neuromuscul Disord. 2011 Nov;21(11):791-9
pubmed: 21803581
J Cachexia Sarcopenia Muscle. 2020 Aug;11(4):1032-1046
pubmed: 32129012
Neuromuscul Disord. 2004 Jan;14(1):51-5
pubmed: 14659413
Neuromuscul Disord. 2012 Oct 1;22 Suppl 2:S148-54
pubmed: 22980766
Sci Rep. 2018 Jul 18;8(1):10898
pubmed: 30022036
Neuromuscul Disord. 2015 Aug;25(8):674-8
pubmed: 25998612
J Magn Reson Imaging. 2014 Jul;40(1):239-47
pubmed: 24615897
Muscle Nerve. 2009 Jul;40(1):122-5
pubmed: 19533640
Age (Dordr). 2015 Jun;37(3):9798
pubmed: 26040416
Lancet. 2008 Oct 11;372(9646):1342-53
pubmed: 18929906
Mol Genet Metab. 2013 Aug;109(4):371-6
pubmed: 23849261
Neurology. 2017 Nov 14;89(20):2057-2065
pubmed: 29030457
J Neurol. 2017 Oct;264(10):2053-2067
pubmed: 28669118
J Inherit Metab Dis. 2010 Dec;33(6):737-45
pubmed: 20844963
J Neurol. 2017 Mar;264(3):438-447
pubmed: 28000006