Diagnostic odyssey for patients with acid sphingomyelinase deficiency (ASMD): Exploring the potential indicators of diagnosis using quantitative and qualitative data

Acid sphingomyelinase deficiency (ASMD) is a rare, progressive, and potentially fatal lysosomal storage disease. This two-part international study aimed to understand physician, patient, and caregivers' experiences during the ASMD diagnostic journey. Qualitative interviews were conducted with p...

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Bibliographic Details

Published in:	Molecular Genetics and Metabolism Reports
Main Authors:	Andrew Doerr, Maliha Farooq, Chad Faulkner, Rebecca Gould, Krista Perry, Ruth Pulikottil-Jacob, Pamela Rajasekhar
Format:	Article
Language:	English
Published:	Elsevier 2024-03-01
Subjects:	Acid sphingomyelinase deficiency ASMD Niemann–Pick Diagnosis Clinical presentation Diagnostic delay
Online Access:	http://www.sciencedirect.com/science/article/pii/S2214426924000053