Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Aimée Donald"'
Autor:
Simona D’Amore, Kathleen Page, Aimée Donald, Khadijeh Taiyari, Brian Tom, Patrick Deegan, Chong Y. Tan, Kenneth Poole, Simon A. Jones, Atul Mehta, Derralynn Hughes, Reena Sharma, Robin H. Lachmann, Anupam Chakrapani, Tarekegn Geberhiwot, Saikat Santra, Siddarth Banka, Timothy M. Cox, the MRC GAUCHERITE Consortium
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-22 (2021)
Abstract Background The Gaucher Investigative Therapy Evaluation is a national clinical cohort of 250 patients aged 5–87 years with Gaucher disease in the United Kingdom—an ultra-rare genetic disorder. To inform clinical decision-making and impro
Externí odkaz:
https://doaj.org/article/2d16bd7af15d425fa25f19e95c76a8ad
Autor:
Simona D'Amore, Kathleen Page, Aimée Donald, Khadijeh Taiyari, Brian Tom, Patrick Brian Deegan, Chong Yew Tan, Kenneth Poole, Simon Allan Jones, Atul Mehta, Derralynn Hughes, Reena Sharma, Robin Henry Lachmann, Aunpam Chakrapani, Tarekegn Geberhiwot, Saikat Santra, Timothy Martin Cox
Background The Gaucher Investigative Therapy Evaluation (GAUCHERITE) is a national clinical cohort of 250 patients aged 5–87 years with Gaucher disease - an ultra-rare genetic disorder. To inform clinical decision-making and improve pathophysiologi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f50a04e14b992758eb52e22b6b7f140c
https://doi.org/10.21203/rs.3.rs-543669/v1
https://doi.org/10.21203/rs.3.rs-543669/v1
Autor:
Aimee Donald, Cecilia Kämpe Björkvall, Ashok Vellodi, GAUCHERITE Consortium, Timothy M. Cox, Derralyn Hughes, Simon A. Jones, Robert Wynn, Maciej Machaczka
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-12 (2022)
Abstract Background Neuronopathic Gaucher Disease (nGD) describes the condition of a subgroup of patients with the Lysosomal Storage Disorder (LSD), Gaucher disease with involvement of the central nervous system (CNS) which results from inherited def
Externí odkaz:
https://doaj.org/article/87856b3cd87144b293aea32047560137
Autor:
Aimee Donald, Chong Y. Tan, Anupam Chakrapani, Derralyn A. Hughes, Reena Sharma, Duncan Cole, Stanislav Bardins, Martin Gorges, Simon A. Jones, Erich Schneider
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-12 (2020)
Abstract Background Neurological forms of Gaucher disease, the inherited disorder of β-Glucosylceramidase caused by bi-allelic variants in GBA1, is a progressive disorder which lacks a disease-modifying therapy. Systemic manifestations of disease ar
Externí odkaz:
https://doaj.org/article/3f8f71dec2714dcc9f882df4b03a3181
Autor:
Aimee Donald, Huseyin Cizer, Niamh Finnegan, Tanya Collin-Histed, Derralynn A. Hughes, Elin Haf Davies
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-11 (2019)
Abstract Background Gaucher disease is an inherited lysosomal storage disorder of which there are three subtypes. Type 1 disease has no neurological involvement and is treatable with enzyme replacement therapy. Type 2 disease results in infant death
Externí odkaz:
https://doaj.org/article/21c54a1db1534c9087dfd23b1a72e4b2