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pro vyhledávání: '"glycogenosis type II"'
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Publikováno v:
Journal of Education, Health and Sport, Vol 13, Iss 4 (2023)
• Introduction: Pompe disease (PD) is a rare metabolic disorder caused by a partial or complete deficiency of acid α-glucosidase (GAA) which leads to lysosomal accumulation of glycogen. Excessive amounts of glycogen accumulate mainly in the cells
Externí odkaz:
https://doaj.org/article/cba570f8a1ba4be1b4c60caf38a45ba5
Autor:
Gerben J. Schaaf, Tom J. M. van Gestel, Stijn L. M. in ‘t Groen, Bart de Jong, Björn Boomaars, Antonietta Tarallo, Monica Cardone, Giancarlo Parenti, Ans T. van der Ploeg, W. W. M. Pim Pijnappel
Publikováno v:
Acta Neuropathologica Communications, Vol 6, Iss 1, Pp 1-16 (2018)
Abstract Pompe disease is a metabolic myopathy that is caused by glycogen accumulation as a result of deficiency of the lysosomal enzyme acid alpha glucosidase (GAA). Previously, we showed that adult muscle stem cells termed satellite cells are prese
Externí odkaz:
https://doaj.org/article/f51a553464da4d30a7d8d9011a9721bd
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-7 (2018)
Abstract Background Lysosomal α-glucosidase deficiency (Pompe disease) not only leads to glycogen accumulation in skeletal muscle, but also in the cerebral arteries. Dolichoectasia of the basilar artery (BA) has been frequently reported. Therefore p
Externí odkaz:
https://doaj.org/article/ee497ad42e894443acda2fad6a947b8e
Autor:
Laurence Dubreil, Lydie Lagalice, Johan Deniaud, Antoine Sabourin, Claire Lovo, Karim Bey, Juliette Hordeaux, Chantal Thorin, Christophe Sandt, Frédéric Jamme, Marie-Anne Colle
Publikováno v:
Journal of Spectral Imaging, Vol 8, Iss 1, p a13 (2019)
Pompe disease (glycogen storage disease type II) is a lysosomal storage disorder due to a mutation in the gene that encodes acid alpha-glucosidase (GAA). GAA deficiency causes the excessive storage of lysosomal glycogen in many cell types, leading to
Externí odkaz:
https://doaj.org/article/c43b1b00ac0642fcaaad362ed97e6ee1
Autor:
Ilka Schneider, Stephan Zierz, Stephan Schulze, Karl-Stefan Delank, Kevin G. Laudner, Richard Brill, René Schwesig
Publikováno v:
Applied Sciences, Vol 10, Iss 19, p 7001 (2020)
Pompe disease is a multisystemic disorder with the hallmark of progressive skeletal muscle weakness that often results in difficulties in walking and balance. However, detailed characterization of gait and postural regulation with this disease is lac
Externí odkaz:
https://doaj.org/article/4cec2f0516e445e0a36ba495659f5633
Publikováno v:
Нервно-мышечные болезни, Vol 5, Iss 3, Pp 62-68 (2015)
Pompe disease, also known as type II glycogenosis, is a rare autosomal recessive disease. Two main types include early-onset Pompe disease – severe, rapidly progressive multisystem deficency, manifestating on the first year of life, and late-onset
Externí odkaz:
https://doaj.org/article/30913cc2ad234f5c960f742404f5c213
Autor:
Tuy Nga Brignol, J. Andoni Urtizberea
Publikováno v:
Нервно-мышечные болезни, Vol 5, Iss 1, Pp 19-24 (2015)
Large number of ophthalmological problems has been found in patients with glycogenosis type II (Pompe disease, PD). Since enzyme replacement therapy (ERT) has been introduced ophthalmic examination in the routine follow-up gained a special role in in
Externí odkaz:
https://doaj.org/article/d7628379017b446ba24f2f423dd8ee8d
Publikováno v:
Нервно-мышечные болезни, Vol 0, Iss 1, Pp 62-68 (2015)
Late-onset Pompe-disease (LOPD) is an adult form of the glycogenosis type II. The age of onset ranges from 1 till 75 y.o. and older. The diagnosis of LOPD is based on the presence of trunk and limb-girdle muscle weakness with hyperlordosis, respirato
Externí odkaz:
https://doaj.org/article/4575c1767e0844fabca76c6d2933d8b0
Autor:
Schneider, Ilka, Zierz, Stephan, Schulze, Stephan, Delank, Karl-Stefan, Laudner, Kevin G., Brill, Richard, Schwesig, René
Publikováno v:
Applied Sciences, Vol 10, Iss 7001, p 7001 (2020)
Applied Sciences
Volume 10
Issue 19
Applied Sciences
Volume 10
Issue 19
Pompe disease is a multisystemic disorder with the hallmark of progressive skeletal muscle weakness that often results in difficulties in walking and balance. However, detailed characterization of gait and postural regulation with this disease is lac
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::603c76b3e8bee774e5d39f17eec0c678
https://www.mdpi.com/2076-3417/10/19/7001
https://www.mdpi.com/2076-3417/10/19/7001