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Pulikottil-Jacob, Ruth
85  Ergebnisse:
Personensuche X
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1

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/..
 
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2

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/..
 
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3

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/..
 
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4

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/..
 
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5

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/..
 
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6

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/..
 
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7

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/..
 
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8

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/..
 
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9

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/..
 
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10

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/..
 
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11

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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12

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/..
 
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13

A summary of neurological and neurocognitive manifestations..:

Rochmann, Camille ; Turnbull, James ; Krupnick, Robert...
Molecular Genetics and Metabolism.  138 (2023)  2 - p. 107292 , 2023
Link: https://doi.org/10.1016/..
 
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14

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/..
 
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15

Fine-motor functioning and its relevance to activities of d..:

Cox, Timothy M. ; Rodriguez, Maria B. ; Dyevre, Valérie...
Molecular Genetics and Metabolism.  138 (2023)  2 - p. 107063 , 2023
Link: https://doi.org/10.1016/..
 
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