Ruth Pulikottil-Jacob
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2

Natural history of acid sphingomyelinase deficiency among E..:

Mengel, Eugen ; Scarpa, Maurizio ; Guffon, Nathalie...
European Journal of Medical Genetics.  70 (2024)  - p. 104954 , 2024
 
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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
 
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Diagnostic odyssey for patients with acid sphingomyelinase ..:

Doerr, Andrew ; Farooq, Maliha ; Faulkner, Chad...
Molecular Genetics and Metabolism Reports.  38 (2024)  - p. 101052 , 2024
 
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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
 
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10

Comparing treatment options for Fabry disease: Feasibility ..:

Lyn, Nicole ; Guyot, Patricia ; Thakker, Divyesh...
Molecular Genetics and Metabolism.  141 (2024)  2 - p. 107943 , 2024
 
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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
 
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14

Survival of patients with chronic acid sphingomyelinase def..:

Ruth Pulikottil-Jacob ; Sumudu Dehipawala ; Brittany Smith...
http://www.sciencedirect.com/science/article/pii/S2214426923000861.  , 2024
 
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15

Diagnostic odyssey for patients with acid sphingomyelinase ..:

Andrew Doerr ; Maliha Farooq ; Chad Faulkner...
http://www.sciencedirect.com/science/article/pii/S2214426924000053.  , 2024
 
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