دورية أكاديمية
Diagnostic odyssey for patients with acid sphingomyelinase deficiency (ASMD): Exploring the potential indicators of diagnosis using quantitative and qualitative data
| العنوان: | Diagnostic odyssey for patients with acid sphingomyelinase deficiency (ASMD): Exploring the potential indicators of diagnosis using quantitative and qualitative data |
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| المؤلفون: | Andrew Doerr, Maliha Farooq, Chad Faulkner, Rebecca Gould, Krista Perry, Ruth Pulikottil-Jacob, Pamela Rajasekhar |
| المصدر: | Molecular Genetics and Metabolism Reports, Vol 38, Iss , Pp 101052- (2024) |
| بيانات النشر: | Elsevier, 2024. |
| سنة النشر: | 2024 |
| المجموعة: | LCC:Medicine (General) LCC:Biology (General) |
| مصطلحات موضوعية: | Acid sphingomyelinase deficiency, ASMD, Niemann–Pick, Diagnosis, Clinical presentation, Diagnostic delay, Medicine (General), R5-920, Biology (General), QH301-705.5 |
| الوصف: | 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 patients with ASMD type B or A/B, caregivers (for patients |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 2214-4269 |
| Relation: | http://www.sciencedirect.com/science/article/pii/S2214426924000053; https://doaj.org/toc/2214-4269 |
| DOI: | 10.1016/j.ymgmr.2024.101052 |
| URL الوصول: | https://doaj.org/article/3e62dc89d32a45dba8197f4efb22976e |
| رقم الأكسشن: | edsdoj.3e62dc89d32a45dba8197f4efb22976e |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 22144269 |
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| DOI: | 10.1016/j.ymgmr.2024.101052 |