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Sandra Cowie
Observed name:
Sandra L. Cowie
Institutions:
Ontario Genomics,
International Niemann-Pick Disease Registry
Observed institutions:
Ontario Genomics,
International Niemann-Pick Disease Registry
OpenAlex ID:
A5116081827
2025 Consensus Clinical Management Guidelines for Niemann‐Pick Disease Type C
2026
·
Tarekegn Hiwot
, Forbes D. Porter
, et al.
·
Journal of Inherited Metabolic Disease
·
4
Patient Perspective—Where Does the Value for Money of a Treatment Really Lie?
2026
·
Toni A. Mathieson
, William R. H. Evans
, et al.
·
Journal of Inherited Metabolic Disease
PDF
The NPC Suspicion Index: Re-establishing a valuable tool for earlier detection of Niemann-Pick disease type C
2026
·
Sandra Cowie
, Toni Mathieson
, et al.
·
Molecular Genetics and Metabolism
Investigating the real-world experience of patients with Niemann-Pick disease type C (NPC) and their carers: Preliminary results
2026
·
Krista Casazza
, Toni Mathieson
, et al.
·
Molecular Genetics and Metabolism
Global reach and equity in lysosomal diseases: The role of the Global Lysosomal Storage Disease Collaborative in access, research, and regulation
2026
·
Tanya L. Collin-Histed
, Daniel Lewi
, et al.
·
Molecular Genetics and Metabolism
Exploring global access challenges for Niemann-Pick disease therapies: Insights from an INDPA survey
2025
·
Sandra Cowie
, Toni Mathieson
·
Molecular Genetics and Metabolism
Development of a novel patient-reported outcome (PRO) measure for acid sphingomyelinase deficiency according to the United States Food and Drug Administration (USFDA) guidance
2025
·
Gerasimos Konidaris
, Conan Donnelly
, et al.
·
Molecular Genetics and Metabolism
Remote technologies for monitoring gait changes due to neurodegenerative diseases in children: Evaluation, issues, and future promise
2025
·
Andrew Olson
, Justin Hopkin
, et al.
·
Molecular Genetics and Metabolism
A multi-disciplinary collaboration to investigate the potential contexts of using sleep-based DHTs into clinical research and practice
2025
·
Justin Hopkin
, Cristin Davidson
, et al.
·
Molecular Genetics and Metabolism
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Works count:
9
Citation count:
4
H-index:
1
I10-index:
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