Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Joon M. Pijnenburg"'
Autor:
Qiushi Liang, Fabio Catalano, Eva C. Vlaar, Joon M. Pijnenburg, Merel Stok, Yvette van Helsdingen, Arnold G. Vulto, Ans T. van der Ploeg, Niek P. van Til, W.W.M. Pim Pijnappel
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 27, Iss , Pp 109-130 (2022)
Pompe disease is caused by deficiency of acid α-glucosidase (GAA), resulting in glycogen accumulation in various tissues, including cardiac and skeletal muscles and the central nervous system (CNS). Enzyme replacement therapy (ERT) improves cardiac,
Externí odkaz:
https://doaj.org/article/310576551caf4a2592416b696428e590
Autor:
Qiushi Liang, Eva C. Vlaar, Fabio Catalano, Joon M. Pijnenburg, Merel Stok, Yvette van Helsdingen, Arnold G. Vulto, Wendy W.J. Unger, Ans T. van der Ploeg, W.W.M. Pim Pijnappel, Niek P. van Til
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 25, Iss , Pp 520-532 (2022)
Enzyme replacement therapy (ERT) is the current standard treatment for Pompe disease, a lysosomal storage disorder caused by deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA). ERT has shown to be lifesaving in patients with classic infa
Externí odkaz:
https://doaj.org/article/833c3541c3c74a63aa8c8bff6fa7155d
Autor:
Erik van der Wal, Atze J. Bergsma, Joon M. Pijnenburg, Ans T. van der Ploeg, W.W.M. Pim Pijnappel
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 7, Iss C, Pp 90-100 (2017)
The most common variant causing Pompe disease is c.-32-13T>G (IVS1) in the acid α-glucosidase (GAA) gene, which weakens the splice acceptor of GAA exon 2 and induces partial and complete exon 2 skipping. It also allows a low level of leaky wild-type
Externí odkaz:
https://doaj.org/article/0e5e51118ddd4097bbff11825f019377
Autor:
Atze J. Bergsma, W.W.M. Pim Pijnappel, Joon M. Pijnenburg, Ans T. van der Ploeg, Erik van der Wal
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 7, Iss C, Pp 90-100 (2017)
Molecular therapy. Nucleic acids, 7, 90-100. Cell Press
Molecular Therapy. Nucleic Acids
Molecular therapy. Nucleic acids, 7, 90-100. Cell Press
Molecular Therapy. Nucleic Acids
The most common variant causing Pompe disease is c.-32-13T>G (IVS1) in the acid α-glucosidase (GAA) gene, which weakens the splice acceptor of GAA exon 2 and induces partial and complete exon 2 skipping. It also allows a low level of leaky wild-type
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82d771da848587c700ee39fb9652a76e
http://www.sciencedirect.com/science/article/pii/S2162253117301397
http://www.sciencedirect.com/science/article/pii/S2162253117301397
Autor:
Michelle Michels, Gerben J. Schaaf, Ans T. van der Ploeg, Ron H.N. van Schaik, Esther Brusse, Tom J.M. van Gestel, Stijn L. M. in ‘t Groen, Jeroen Demmers, Lex B. Verdijk, Joon M. Pijnenburg, W.W.M. Pim Pijnappel, Dick H. W. Dekkers, Stephan C.A. Wens, Michelle E. Kruijshaar, Pieter A. van Doorn
Publikováno v:
Circulation : Cardiovascular Genetics, 9(1), 6-13. LIPPINCOTT WILLIAMS & WILKINS
Circulation-cardiovascular genetics, 9(1), 6-13. Lippincott Williams & Wilkins
Circulation-cardiovascular genetics, 9(1), 6-13. Lippincott Williams & Wilkins
Background— Elevated plasma cardiac troponin T (cTnT) levels in patients with neuromuscular disorders may erroneously lead to the diagnosis of acute myocardial infarction or myocardial injury. Methods and Results— In 122 patients with Pompe disea
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5dc5b5b3e0171c872fec7b2c29e7df8b
https://doi.org/10.1161/circgenetics.115.001322
https://doi.org/10.1161/circgenetics.115.001322
Autor:
Hans R. Schöler, Joon M. Pijnenburg, T. van Gestel, W. Pijnappel, E. van der Wal, Atze J. Bergsma, A.T. van der Ploeg, Marcos J. Araúzo-Bravo, S. in ‘t Groen, Holm Zaehres
Publikováno v:
Neuromuscular Disorders. 27:S161
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::71a25594bcb3c74e68ef1fd6cc7da998
https://doi.org/10.1016/j.nmd.2017.06.248
https://doi.org/10.1016/j.nmd.2017.06.248
Autor:
Stijn L. M. in ‘t Groen, Ans T. van der Ploeg, Hans R. Schöler, Erik van der Wal, Holm Zaehres, Marcos J. Araúzo-Bravo, Joon M. Pijnenburg, Tom J.M. van Gestel, Atze J. Bergsma, W.W.M. Pim Pijnappel
Publikováno v:
Molecular Genetics and Metabolism. 120:S27
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cdc85d953bd69c137c53121f1ff4f17b
https://doi.org/10.1016/j.ymgme.2016.11.040
https://doi.org/10.1016/j.ymgme.2016.11.040