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Pulikottil-Jacob, Ruth
85
results:
Search for persons
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Format
Online (85)
Mediatypes
Articles (Online) (54)
OpenAccess-fulltext (31)
Languages
english (80)
french (1)
Sorted by: Relevance
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?
1
Natural history of acid sphingomyelinase deficiency among E..:
Mengel, Eugen
;
Scarpa, Maurizio
;
Guffon, Nathalie
...
European Journal of Medical Genetics. 70 (2024) - p. 104954 , 2024
Link:
https://doi.org/10.1016/..
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2
Qualitative Study of the Patient Experience with Venglustat..:
Schiffmann, Raphael
;
Mengel, Eugen
;
Wallace, Mary
...
Advances in Therapy. 41 (2024) 7 - p. 2907-2923 , 2024
Link:
https://doi.org/10.1007/..
?
3
Assessment of health state utilities associated with adult ..:
Matza, Louis S.
;
Stewart, Katie D.
;
Fournier, Marie
...
The European Journal of Health Economics. , 2024
Link:
https://doi.org/10.1007/..
?
4
A retrospective study of morbidity and mortality of chronic..:
Mengel, Eugen
;
Muschol, Nicole
;
Weinhold, Natalie
...
Orphanet Journal of Rare Diseases. 19 (2024) 1 - p. , 2024
Link:
https://doi.org/10.1186/..
?
5
Measuring the intangible cost of lysosomal disorders: Fabry..:
Lyn, Nicole
;
Ba, Sarah
;
Graham, Christina A.
...
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 107944 , 2024
Link:
https://doi.org/10.1016/..
?
6
Diagnostic odyssey for patients with acid sphingomyelinase ..:
Doerr, Andrew
;
Farooq, Maliha
;
Faulkner, Chad
...
Molecular Genetics and Metabolism Reports. 38 (2024) - p. 101052 , 2024
Link:
https://doi.org/10.1016/..
?
7
Assessing the impact of pain on health-related quality of l..:
Lyn, Nicole
;
Wang, Jennifer
;
Ba, Sarah
...
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 107945 , 2024
Link:
https://doi.org/10.1016/..
?
8
Survival of patients with chronic acid sphingomyelinase def..:
Pulikottil-Jacob, Ruth
;
Dehipawala, Sumudu
;
Smith, Brittany
...
Molecular Genetics and Metabolism Reports. 38 (2024) - p. 101040 , 2024
Link:
https://doi.org/10.1016/..
?
9
Comparing treatment options for Fabry disease: Feasibility ..:
Lyn, Nicole
;
Guyot, Patricia
;
Thakker, Divyesh
...
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 107943 , 2024
Link:
https://doi.org/10.1016/..
?
10
Motor function limitations and impacts among patients with ..:
Ng-Mak, Daisy
;
Rodriguez, Maria Belen
;
Heuer, Karli
...
Molecular Genetics and Metabolism. 141 (2024) 4 - p. 108236 , 2024
Link:
https://doi.org/10.1016/..
?
11
Psychometric validation of Pompe Disease Symptom Scale (PDS..:
Pulikottil-Jacob, Ruth
;
Rawat, Neeraj Singh
;
Altenweg, Doug
..
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 108007 , 2024
Link:
https://doi.org/10.1016/..
?
12
Content validation of the modified Friedreich Ataxia Rating..:
Pulikottil-Jacob, Ruth
;
Krupnick, Robert
;
Turnball, James
..
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 108008 , 2024
Link:
https://doi.org/10.1016/..
?
13
Re: The budget impact of enzyme replacement therapy in type..:
Rochmann, Camille
;
Fournier, Marie
;
Hull, Judy
..
Journal of Medical Economics. 26 (2023) 1 - p. 627-629 , 2023
Link:
https://doi.org/10.1080/..
?
14
Healthcare Service Use Patterns Among Patients with Acid Sp..:
Pulikottil-Jacob, Ruth
;
Ganz, Michael L.
;
Fournier, Marie
.
Advances in Therapy. 40 (2023) 5 - p. 2234-2248 , 2023
Link:
https://doi.org/10.1007/..
?
15
Survival of patients with acid sphingomyelinase deficiency ..:
Pulikottil-Jacob, Ruth
;
Munoz-Rojas, Maria Veronica
;
Gusto, Gaelle
...
Molecular Genetics and Metabolism. 138 (2023) 2 - p. 107282 , 2023
Link:
https://doi.org/10.1016/..
1-15