Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Gino V. Hu‐A‐Ng"'
Autor:
Marianna Bugiani, Truus E. M. Abbink, Arthur W. D. Edridge, Lia van derHoek, Anne E. J. Hillen, Niek P. vanTil, Gino V. Hu‐A‐Ng, Marjolein Breur, Karen Aiach, Philippe Drevot, Michaël Hocquemiller, Ralph Laufer, Frits A. Wijburg, Marjo S. van derKnaap
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 10, Iss 6, Pp 904-917 (2023)
Abstract Objective Mucopolysaccharidosis type IIIA (MPSIIIA) caused by recessive SGSH variants results in sulfamidase deficiency, leading to neurocognitive decline and death. No disease‐modifying therapy is available. The AAVance gene therapy trial
Externí odkaz:
https://doaj.org/article/7b120ba2fed845d38eb844ce2a9e52f1
Autor:
Diede Witkamp, Ellen Oudejans, Leoni Hoogterp, Gino V. Hu-A-Ng, Kathryn A. Glaittli, Tamara J. Stevenson, Marleen Huijsmans, Truus E. M. Abbink, Marjo S. van der Knaap, Joshua L. Bonkowsky
Publikováno v:
Frontiers in Neuroscience, Vol 18 (2024)
Vanishing white matter (VWM) is a devastating autosomal recessive leukodystrophy, resulting in neurological deterioration and premature death, and without curative treatment. Pathogenic hypomorphic variants in subunits of the eukaryotic initiation fa
Externí odkaz:
https://doaj.org/article/4fb950a2d5154f3bac0ae37e6d893ed1
Autor:
Diede Witkamp, Ellen Oudejans, Gino V. Hu‐A‐Ng, Leoni Hoogterp, Aleksandra M. Krzywańska, Milo Žnidaršič, Kevin Marinus, Christina F. deVeij Mestdagh, Imke Bartelink, Marianna Bugiani, Marjo S. van derKnaap, Truus E. M. Abbink
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 9, Iss 8, Pp 1147-1162 (2022)
Abstract Objective Vanishing white matter (VWM) is a leukodystrophy, characterized by stress‐sensitive neurological deterioration and premature death. It is currently without curative treatment. It is caused by bi‐allelic pathogenic variants in t
Externí odkaz:
https://doaj.org/article/c5e06aa30a734f0dbbe6d14d942036f7