E-LIB Suche - Ergebnisse für: Donald, Aimee

1

Safety and preliminary efficacy of LYS-GM101 gene therapy i..:

Ghosh, Arunabha ; Héron, Bénédicte ; Donald, Aimee...
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 107839 , 2024

Link: https://doi.org/10.1016/..

2

Is Gaucher disease in children a continuum of phenotype, a ..:

Abdelwahab, Magy ; Donald, Aimee ; Alpan, Ozlem Goker
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 107740 , 2024

Link: https://doi.org/10.1016/..

3

The meningeal immune landscape in mucopolysaccharidosis typ..:

Parker, Helen ; Donald, Aimee ; Greenhalgh, Andrew
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 107992 , 2024

Link: https://doi.org/10.1016/..

4

Challenges and strategies with international recruitment in..:

Saggers, Michelle ; Jones, Simon ; Watson, Lisa...
Molecular Genetics and Metabolism. 138 (2023) 2 - p. 107301 , 2023

Link: https://doi.org/10.1016/..

5

Phase 1/2 study update of an AAV9-based gene therapy for Ga..:

Neuhaus, Sarah ; Lewis, Travis B. ; Tamburri, Paul A....
Molecular Genetics and Metabolism. 138 (2023) 2 - p. 107238 , 2023

Link: https://doi.org/10.1016/..

6

Sustained improvement of clinical CNS and somatic features ..:

Donald, Aimee ; Potter, Jane ; Church, Heather J....
Molecular Genetics and Metabolism. 138 (2023) 2 - p. 107083 , 2023

Link: https://doi.org/10.1016/..

7

Thirty-year clinical outcomes after haematopoietic stem cel..:

Donald, Aimee ; Björkvall, Cecilia Kämpe ; Vellodi, Ashok...
Orphanet Journal of Rare Diseases. 17 (2022) 1 - p. , 2022

Link: https://doi.org/10.1186/..

8

Secondary Mitochondrial Dysfunction as a Cause of Neurodege..:

Stepien, Karolina M. ; Cufflin, Neve ; Donald, Aimee...
International Journal of Molecular Sciences. 23 (2022) 18 - p. 10573 , 2022

Link: https://doi.org/10.3390/..

9

Throwing a spotlight on under-recognized manifestations of ..:

Ramaswami, Uma ; Mengel, Eugen ; Berrah, Abdelkrim...
Molecular Genetics and Metabolism. 133 (2021) 4 - p. 335-344 , 2021

Link: https://doi.org/10.1016/..

10

Wearable Technologies for Children with Chronic Illnesses: ..:

McErlane, Flora ; Davies, Elin Haf ; Ollivier, Cecile...
Therapeutic Innovation & Regulatory Science. , 2021

Link: https://doi.org/10.1007/..

11

In-depth phenotyping for clinical stratification of Gaucher..:

D'Amore, Simona ; Page, Kathleen ; Donald, Aimée...
Orphanet Journal of Rare Diseases. 16 (2021) 1 - p. , 2021

Link: https://doi.org/10.1186/..

12

The definition of neuronopathic Gaucher disease:

Schiffmann, Raphael ; Sevigny, Jeff ; Rolfs, Arndt...
Journal of Inherited Metabolic Disease. 43 (2020) 5 - p. 1056-1059 , 2020

Link: https://doi.org/10.1002/..

13

Eye movement biomarkers allow for the definition of phenoty..:

Donald, Aimee ; Tan, Chong Y. ; Chakrapani, Anupam...
Orphanet Journal of Rare Diseases. 15 (2020) 1 - p. , 2020

Link: https://doi.org/10.1186/..

14

From birth to the sixth decade - A natural history study of..:

Donald, Aimee ; Jones, Simon A. ; Vellodi, Ashok..
Molecular Genetics and Metabolism. 126 (2019) 2 - p. S49-S50 , 2019

Link: https://doi.org/10.1016/..

15

Evaluation of the detection of GBA missense mutations and o..:

Leija‐Salazar, Melissa ; Sedlazeck, Fritz J. ; Toffoli, Marco...
Molecular Genetics & Genomic Medicine. 7 (2019) 3 - p. , 2019

Link: https://doi.org/10.1002/..