Zobrazeno 1 - 2
of 2
pro vyhledávání: '"MESH: Mucopolysaccharidosis III* / genetics"'
Autor:
Gougeon, Marie-Lise, Poirier-Beaudouin, Béatrice, Ausseil, Jérome, Zérah, Michel, Artaud, Cécile, Heard, Jean-Michel, Deiva, Kumaran, Tardieu, Marc
Publikováno v:
Frontiers in Immunology
Frontiers in Immunology, Frontiers, 2021, 12, pp.655478. ⟨10.3389/fimmu.2021.655478⟩
Frontiers in Immunology, Vol 12 (2021)
Frontiers in Immunology, 2021, 12, pp.655478. ⟨10.3389/fimmu.2021.655478⟩
Frontiers in Immunology, Frontiers, 2021, 12, pp.655478. ⟨10.3389/fimmu.2021.655478⟩
Frontiers in Immunology, Vol 12 (2021)
Frontiers in Immunology, 2021, 12, pp.655478. ⟨10.3389/fimmu.2021.655478⟩
International audience; Mucopolysaccharidosis type IIIB syndrome (Sanfilippo disease) is a rare autosomic recessif disorder caused by mutations in the α-N-acetylglucosaminidase (NAGLU) gene coding for a lysosomal enzyme, leading to neurodegeneration
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::264181ddb1d95ef2cdef9ef8f1850cc3
https://hal.sorbonne-universite.fr/hal-03241952/file/fimmu-12-655478.pdf
https://hal.sorbonne-universite.fr/hal-03241952/file/fimmu-12-655478.pdf
Autor:
Jérôme Ausseil, Béatrice Poirier-Beaudouin, Marie-Lise Gougeon, Béatrice Husson, Dimitrios I. Zafeiriou, Marc Tardieu, Giancarlo Parenti, Kumaran Deiva, Michel Zerah, Stéphanie de Bournonville, Jean-Michel Heard
Publikováno v:
Human Gene Therapy
Human Gene Therapy, 2021, 32 (19-20), pp.1251-1259. ⟨10.1089/hum.2021.135⟩
Human Gene Therapy, 2021, 32 (19-20), pp.1251-1259. ⟨10.1089/hum.2021.135⟩
International audience; We report the safety (primary endpoint) and efficacy (secondary endpoint) of a novel intracerebral gene therapy at 5.5 years of follow-up in children with Sanfilippo B. An uncontrolled, phase 1/2 clinical trial was performed i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5656e00806ab496dfb15526727215b31
http://hdl.handle.net/11588/870281
http://hdl.handle.net/11588/870281