E-LIB Suche - Ergebnisse für: Mathieson, Toni

1

Real-life impacts of olipudase alfa: The experience of pati..:

Raebel, Eva M. ; Wiseman, Samantha ; Donnelly, Conan...
Orphanet Journal of Rare Diseases. 19 (2024) 1 - p. , 2024

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

2

Collaboration between patient advocacy and industry to crea..:

Fields, Taylor ; Crowe, Joslyn ; Evans, Will...
Molecular Genetics and Metabolism. 138 (2023) 2 - p. 107099 , 2023

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

3

A global survey to investigate experiences of Niemann-Pick ..:

Donnelly, Conan B. ; Mbua, Solomon ; Mathieson, Toni
Molecular Genetics and Metabolism. 138 (2023) 2 - p. 107085 , 2023

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

4

Acid sphingomyelinase deficiency: Burden of disease and rea..:

Hopkin, Justin ; Donnelly, Conan ; Crowe, Joslyn..
Molecular Genetics and Metabolism. 138 (2023) 2 - p. 107151 , 2023

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

5

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/..

6

Impacts and Burden of Niemann pick Type-C: a patient and ca..:

Mengel, Eugen ; Patterson, Marc C. ; Chladek, Michael...
Orphanet Journal of Rare Diseases. 16 (2021) 1 - p. , 2021

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

7

Impacts and burden of Niemann-Pick disease type C: A patien..:

Mengel, Eugen ; Patterson, Marc ; Chladek, Michael...
Molecular Genetics and Metabolism. 132 (2021) 2 - p. S71 , 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

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/..

10

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/..

11

Collaborative working to advance standards of care and the ..:

Collin-Histed, Tanya ; Lavery, Christine ; Mathieson, Toni...
Molecular Genetics and Metabolism. 123 (2018) 2 - p. S33 , 2018

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

12

Principles for interactions with biopharmaceutical companie..:

Stein, Susan ; Bogard, Elizabeth ; Boice, Nicole...
Orphanet Journal of Rare Diseases. 13 (2018) 1 - p. , 2018

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

13

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

Evans, William ; Patterson, Marc ; Platt, Frances...
https://nottingham-repository.worktribe.com/output/6840987. , 2021

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

14

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

Evans, William ; Patterson, Marc ; Platt, Frances...
qt9s47s25v. , 2021

Link: https://escholarship.org..

15

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

Shaun C. Bolton ; Vina Soran ; Mercedes Pineda Marfa...
https://doi.org/10.1186/s13023-022-02200-4. , 2022

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