Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Hanna Polari"'
Autor:
Anne Timonen, Michele Lloyd-Puryear, David M. Hougaard, Liisa Meriö, Pauliina Mäkinen, Ville Laitala, Tuukka Pölönen, Kristin Skogstrand, Annie Kennedy, Sari Airenne, Hanna Polari, Teemu Korpimäki
Publikováno v:
International Journal of Neonatal Screening, Vol 5, Iss 3, p 27 (2019)
Duchenne muscular dystrophy (DMD/Duchenne) is a progressive X-linked disease and is the most common pediatric-onset form of muscular dystrophy, affecting approximately 1:5000 live male births. DNA testing for mutations in the dystrophin gene confirms
Externí odkaz:
https://doaj.org/article/49457d1d54234366825d4adcc29ce7f2
Autor:
Qing Ke, Emma Ciafaloni, Catherine Jay, Anne M. Connolly, Hanna Polari, Lindsay N. Alfano, Veronica Wiley, Ming Qi, Jerry R. Mendell, Mei W. Baker, Jennifer M. Kwon, Michele A. Gatheridge, Zhengyan Zhao, Robert C. Griggs
Publikováno v:
World Journal of Pediatrics. 15:219-225
Advances in treatment for Duchenne muscular dystrophy (DMD) and spinal muscular atrophy (SMA) hold promise for children with these disorders. Accurate genetic diagnosis, early in the disease process, will allow these treatments to be most effective.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06f4c676f3a1f1afa6d76889d432df87
https://doi.org/10.1007/s12519-019-00242-6
https://doi.org/10.1007/s12519-019-00242-6
Autor:
Ian Weeks, Stuart J. Moat, Petra Furu, Hanna Polari, Teemu Korpimaki, Pauliina Mäkinen, Liisa Meriö, Harri Hakala
Publikováno v:
Clinical Chemistry. 63:908-914
BACKGROUNDDuchenne muscular dystrophy (DMD) is a progressive, lethal X-linked neuromuscular disorder with an average worldwide incidence of 1:5000. Blood spot creatine kinase (CK) enzyme assays previously used in newborn screening programs for DMD ar
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e87e5e3091629834458af1aa44ac98e
https://doi.org/10.1373/clinchem.2016.268425
https://doi.org/10.1373/clinchem.2016.268425
Autor:
Ville Laitala, Pauliina Mäkinen, Sari Airenne, David M. Hougaard, Hanna Polari, Michele A. Lloyd-Puryear, Annie Kennedy, Tuukka Pölönen, Anne Timonen, Liisa Meriö, Kristin Skogstrand, Teemu Korpimaki
Publikováno v:
International Journal of Neonatal Screening
Volume 5
Issue 3
International Journal of Neonatal Screening, Vol 5, Iss 3, p 27 (2019)
Volume 5
Issue 3
International Journal of Neonatal Screening, Vol 5, Iss 3, p 27 (2019)
Duchenne muscular dystrophy (DMD/Duchenne) is a progressive X-linked disease and is the most common pediatric-onset form of muscular dystrophy, affecting approximately 1:5000 live male births. DNA testing for mutations in the dystrophin gene confirms
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::22401e4b668b2a07c6130e1b6cb0d169