Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Silvin Lito"'
Autor:
Silvin Lito, Patricie Burda, Matthias Baumgartner, Frédérique Sloan-Béna, Zsuzsanna Táncos, Julianna Kobolák, András Dinnyés, Karl-Heinz Krause, Antoine Marteyn
Publikováno v:
Stem Cell Research, Vol 41, Iss , Pp - (2019)
Mucopolysaccharidosis type I-Hurler (MPS1-H) is the most severe form of inherited metabolic diseases caused by mutations in the IDUA gene. The resulting deficiency of alpha L-iduronidase enzyme leads to a progressive accumulation of glycosaminoglycan
Externí odkaz:
https://doaj.org/article/ab0ce14b1bdb4b87825c91680080d914
Autor:
Silvin Lito, Adama Sidibe, Sten Ilmjarv, Patricie Burda, Matthias Baumgartner, Bernhard Wehrle-Haller, Karl-Heinz Krause, Antoine Marteyn
Publikováno v:
Cells, Vol 9, Iss 12, p 2593 (2020)
Background: Mucopolysaccharidosis type I-Hurler (MPS1-H) is a severe genetic lysosomal storage disorder due to loss-of-function mutations in the IDUA gene. The subsequent complete deficiency of alpha l-iduronidase enzyme is directly responsible of a
Externí odkaz:
https://doaj.org/article/c4dd60e3edf341ae89089a985542b793
Autor:
Antoine Marteyn, Adama Sidibé, Matthias R. Baumgartner, Karl-Heinz Krause, Sten Ilmjärv, Patricie Burda, Bernhard Wehrle-Haller, Silvin Lito
Publikováno v:
Cells
Volume 9
Issue 12
Cells, Vol. 9, No 12 (2020) P. 2593
Cells, Vol 9, Iss 2593, p 2593 (2020)
Volume 9
Issue 12
Cells, Vol. 9, No 12 (2020) P. 2593
Cells, Vol 9, Iss 2593, p 2593 (2020)
Background: Mucopolysaccharidosis type I-Hurler (MPS1-H) is a severe genetic lysosomal storage disorder due to loss-of-function mutations in the IDUA gene. The subsequent complete deficiency of alpha l-iduronidase enzyme is directly responsible of a
Publikováno v:
Bone and Joint Infections
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1cfe11ce5f6dfc6b96c567b952e59c36
https://doi.org/10.1002/9781118581742.ch17
https://doi.org/10.1002/9781118581742.ch17