I agree that this site is using cookies. You can find further informations here.
X
Imrie, Jackie
53  results:
Search for persons X
?
1

Metachromatic leukodystrophy: Working together for optimal ..:

Imrie, Jackie ; Thomas, Sophie ; Morton, Georgina
Molecular Genetics and Metabolism.  141 (2024)  2 - p. 107895 , 2024
Link: https://doi.org/10.1016/..
 
?
2

The burden of disease in metachromatic leukodystrophy: resu..:

Thomas, Sophie ; Morrison, Alexandra ; Morton, Georgina...
Orphanet Journal of Rare Diseases.  19 (2024)  1 - p. , 2024
Link: https://doi.org/10.1186/..
 
?
3

Development of a patient-reported data collection system fo..:

Donnelly, Conan B. ; Imrie, Jackie ; Mbua, Solomon.
Molecular Genetics and Metabolism.  138 (2023)  2 - p. 107084 , 2023
Link: https://doi.org/10.1016/..
 
?
4

Consensus clinical management guidelines for acid sphingomy..:

Geberhiwot, Tarekegn ; Wasserstein, Melissa ; Wanninayake, Subadra...
Orphanet Journal of Rare Diseases.  18 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
?
5

The importance of early diagnosis and views on newborn scre..:

Morton, Georgina ; Thomas, Sophie ; Roberts, Pat...
Orphanet Journal of Rare Diseases.  17 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
?
6

Clinical disease characteristics of patients with Niemann-P..:

Bolton, Shaun C. ; Soran, Vina ; Marfa, Mercedes Pineda...
Orphanet Journal of Rare Diseases.  17 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
?
7

International Niemann-Pick Disease Registry: Establishing w..:

Imrie, Jackie ; Bolton, Shaun ; Donnelly, Conan
Molecular Genetics and Metabolism.  132 (2021)  2 - p. S51 , 2021
Link: https://doi.org/10.1016/..
 
?
8

International consensus on clinical severity scale use in e..:

Evans, William ; Patterson, Marc ; Platt, Frances...
Orphanet Journal of Rare Diseases.  16 (2021)  1 - p. , 2021
Link: https://doi.org/10.1186/..
 
?
9

Long‐term survival outcomes of patients with Niemann‐Pick d..:

Patterson, Marc C. ; Garver, William S. ; Giugliani, Robert...
Journal of Inherited Metabolic Disease.  43 (2020)  5 - p. 1060-1069 , 2020
Link: https://doi.org/10.1002/..
 
?
10

The International Niemann-Pick Disease Registry (INPDR): A ..:

Imrie, Jackie ; Green, Jim ; Mathieson, Toni..
Molecular Genetics and Metabolism.  129 (2020)  2 - p. S78 , 2020
Link: https://doi.org/10.1016/..
 
?
11

Challenges of regulatory requirements for patient registrie..:

Imrie, Jackie ; Patterson, Marc ; Green, Jim..
Molecular Genetics and Metabolism.  126 (2019)  2 - p. S77-S78 , 2019
Link: https://doi.org/10.1016/..
 
?
12

The International Niemann-Pick Disease Registry (INPDR) - A..:

Imrie, Jackie ; Pineda, Merce ; Coll, Maria Jose...
Molecular Genetics and Metabolism.  123 (2018)  2 - p. S68 , 2018
Link: https://doi.org/10.1016/..
 
?
13

Corrigendum to "Cause of death in patients with chronic vis..:

Cassiman, David ; Packman, Seymour ; Bembi, Bruno...
Molecular Genetics and Metabolism.  125 (2018)  4 - p. 360 , 2018
Link: https://doi.org/10.1016/..
 
?
14

Consensus clinical management guidelines for Niemann-Pick d..:

on behalf of the International Niemann-Pick Disease Registry (INPDR) ; Geberhiwot, Tarekegn ; Moro, Alessandro...
Orphanet Journal of Rare Diseases.  13 (2018)  1 - p. , 2018
Link: https://doi.org/10.1186/..
 
?
15

Annual severity increment score as a tool for stratifying p..:

Cortina-Borja, Mario ; te Vruchte, Danielle ; Mengel, Eugen...
Orphanet Journal of Rare Diseases.  13 (2018)  1 - p. , 2018
Link: https://doi.org/10.1186/..
 
1-15