Zobrazeno 1 - 10
of 24
pro vyhledávání: '"Aimee Donald"'
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:
Karolina M. Stepien, Neve Cufflin, Aimee Donald, Simon Jones, Heather Church, Iain P. Hargreaves
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 18, p 10573 (2022)
Mitochondrial dysfunction has been recognised a major contributory factor to the pathophysiology of a number of lysosomal storage disorders (LSDs). The cause of mitochondrial dysfunction in LSDs is as yet uncertain, but appears to be triggered by a n
Externí odkaz:
https://doaj.org/article/67a11dedb1d94181b25d0f078f18df87
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
Autor:
Aimee Donald, Obuchinezia Anyanwu, Anna Mayhew, Victoria Harbottle, Elin Haf Davies, Cecile Ollivier, Flora McErlane
Publikováno v:
Therapeutic Innovation & Regulatory Science. 55:799-806
To determine the utility of wearable technologies in physical activity assessment in three paediatric diseases, namely, Niemann-Pick C (NP-C), Juvenile Idiopathic Arthritis (JIA) and Duchenne Muscular Dystrophy (DMD). Exploratory study Thirty childre
Autor:
Aimee Donald, Jane Potter, Heather J. Church, Bahareh Amirloo, James Cooper, Christine Egerton, Kelly E. Watts, Rebekah A. Hutton, Stewart Rust, Rebecca Bromley, Stavros M. Stivaros, Mathews Adera, Essra Ridha, Milena Veselinovic, Simon A. Jones, Robert Wynn, Alexander Broomfield
Publikováno v:
Molecular Genetics and Metabolism. 138:107083
Autor:
Michelle Saggers, Simon Jones, Lisa Watson, Aimee Donald, Arunabha Ghosh, Laura Furness, Liz Worsley
Publikováno v:
Molecular Genetics and Metabolism. 138:107301
Autor:
Sarah Neuhaus, Travis B. Lewis, Paul A. Tamburri, Chester B. Whitley, Deepa Rajan, Renata C. Gallagher, Simon Jones, Aimee Donald, Maria L. Escolar, Yael Beckerman, Erin Mahoney, Daniel A. Hatch, Lee Shaughnessy, Patricia Sondergaard, Olga Uspenskaya, Jeffrey Sevigny
Publikováno v:
Molecular Genetics and Metabolism. 138:107238
Autor:
M. Judith Peterschmitt, Uma Ramaswami, Moeenaldeen Al-Sayed, Aimee Donald, Alex Broomfield, Magy Abdelwahab, Han-Wook Yoo, Wuh-Liang Hwu, Hadeel M. Seif El Dein, Abdelkrim Berrah, Selena Freisens, Eugen Mengel
Publikováno v:
Molecular genetics and metabolism. 133(4)
Background Gaucher disease (GD) is a rare lysosomal storage disorder classically subdivided into type 1 (non-neuronopathic) GD, and types 2 and 3 (neuronopathic) GD. It is typically characterized by clinical manifestations including anemia, thrombocy
Autor:
Flora, McErlane, Elin Haf, Davies, Cecile, Ollivier, Anna, Mayhew, Obuchinezia, Anyanwu, Victoria, Harbottle, Aimee, Donald
Publikováno v:
Therapeutic innovationregulatory science. 55(4)
To determine the utility of wearable technologies in physical activity assessment in three paediatric diseases, namely, Niemann-Pick C (NP-C), Juvenile Idiopathic Arthritis (JIA) and Duchenne Muscular Dystrophy (DMD).Exploratory study SETTING AND PAT