Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Jey Jeyakumar"'
Autor:
Jey Jeyakumar, Sophie A. Snow, Olivia Allen, Sujata Ravi, Rose Sheridan, Jonathan H. Foley, Romuald Corbau, Erald Shehu
Publikováno v:
Molecular Genetics and Metabolism. 132:S90-S91
Autor:
Azadeh Kia, Jey Jeyakumar, Niten Patel, Gerard Short, Romuald Corbau, Derralynn Hughes, Rose Sheridan, Amit C. Nathwani, Leanne Dronfield, Russell Kinch
Publikováno v:
Molecular Genetics and Metabolism. 129:S77-S78
Autor:
Olivier D. Christophe, Andreas Schulze, Elisa Chisari, Allison P Dane, Azadeh Kia, Jalpa Pandya, Maria Portillo, Fabrizio Comper, Renee Kober, Segen Negash, Cécile V. Denis, Jonathan H. Foley, Florian Sonntag, Hattie Ollerton, Samantha Correia, Jenny McIntosh, Jaminder Khinder, Rebecca Alade, Jey Jeyakumar, Clement Cocita, Caterina Casari, Romuald Corbau, Dodev Tihomir, Erald Shehu
Publikováno v:
Blood. 134:4638-4638
Background: Several first-generation gene therapies are currently in clinical trials for Haemophilia A. These trials have to date exhibited varying results including issues with large patient to patient variation in FVIII levels and lack of durabilit
Autor:
Jalpa Pandya, Jey Jeyakumar, Rose Sheridan, Maria Portillo, Elisa Chisari, Miriam Canavese, Carlos Henrique Miranda, Clement Cocita, Amit C. Nathwani, Romuald Corbau, Jonathan H. Foley, Azadeh Kia, Allison P Dane, Jenny McIntosh
Publikováno v:
Blood. 134:3354-3354
Introduction: Gaucher disease (GD), one of the most common lysosomal storage disorders, is an autosomal recessive condition resulting from mutations in the GBA gene that codes for the b-glucocerebrosidase (GCase) enzyme. Over 90% of patients have typ
Autor:
Azadeh Kia, Romuald Corbau, Rose Sheridan, Paniz Hosseini, Jenny McIntosh, Doyoung Lee, Amit C. Nathwani, Jonathan H. Foley, Jey Jeyakumar, Carlos J. Miranda, Miriam Canavese
Publikováno v:
Molecular Genetics and Metabolism. 126:S100
Gaucher disease (GD) is characterised by the deposition of glucocerebroside in cells of the macrophage-monocyte system caused by impaired production of the enzyme beta-glucocerebrosidase (GCase). Over the past 20 years, enzymatic replacement therapy
Autor:
Azadeh Kia, Amit C. Nathwani, Jenny McIntosh, Paniz Hosseini, Jey Jeyakumar, Daniël Verhoef, Romuald Corbau, Petya Kalcheva, Rose Sheridan
Publikováno v:
Molecular Genetics and Metabolism. 126:S80
Fabry disease is an X-linked lysosomal storage disorder (LSD) resulting from mutations in the gene encoding for α-galactosidase A (GLA). It is characterised by the abnormal accumulation of neutral glycosphingolipids (GSL), predominantly Globotriaosy