Research output per year
Research output per year
Personal profile
University profile
Dr. Mousumi Bose is Assistant Professor in the Department of Nutrition and Food Studies.
Dr. Bose focuses her research on rare diseases, especially Zellweger spectrum disorder (ZSD), a rare, life-limiting preoxisome disorder. As such, Dr. Bose contributed to the first published treatment guidelines for ZSD. She is passionate about learning what is important to rare disease families and using that information to help improve their lives.
Dr. Bose aims to improve the standards of care for families affected by rare pediatric disorders, by shifting the paradigm of care to a more community-wide, public-health approach. Her long-term goal is to conduct patient/family-centered research in rare metabolic diseases such as PBD-ZSD.
Research interests
Dr. Bose focuses her research on rare diseases, especially Zellweger spectrum disorder (ZSD), a rare, life-limiting preoxisome disorder.
Scholarly Interests
Dr. Bose aims to improve the standards of care for families affected by rare pediatric disorders, by shifting the paradigm of care to a more community-wide, public-health approach. Her long-term goal is to conduct patient/family-centered research in rare metabolic diseases such as PBD-ZSD.
Expertise related to UN Sustainable Development Goals
In 2015, UN member states agreed to 17 global Sustainable Development Goals (SDGs) to end poverty, protect the planet and ensure prosperity for all. This person’s work contributes towards the following SDG(s):
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Development of a Quality-of-Life Survey for Patients With Succinic Semialdehyde Dehydrogenase Deficiency, a Rare Disorder of GABA Metabolism
Bose, M., Roullet, J. B., Gibson, K. M., Rizzo, W. B., Mansur, H. M., McConnell, A., Hoffman, C. A., DiBacco, M. L. & Pearl, P. L., 2021, (Accepted/In press) In: Journal of Child Neurology.Research output: Contribution to journal › Article › peer-review
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Zellweger spectrum disorder: A cross-sectional study of symptom prevalence using input from family caregivers
Bose, M., Cuthbertson, D. D., Fraser, M. A., Roullet, J. B., Gibson, K. M., Schules, D. R., Gawron, K. M., Gamble, M. B., Sacra, K. M., Lopez, M. J. & Rizzo, W. B., Dec 2020, In: Molecular Genetics and Metabolism Reports. 25, 100694.Research output: Contribution to journal › Article › peer-review
Open Access1 Scopus citations -
Emotional experience in parents of children with Zellweger spectrum disorders: A qualitative study
Bose, M., Mahadevan, M., Schules, D. R., Coleman, R. K., Gawron, K. M., Gamble, M. B., Roullet, J. B., Gibson, K. M. & Rizzo, W. B., Jun 2019, In: Molecular Genetics and Metabolism Reports. 19, 100459.Research output: Contribution to journal › Article › peer-review
Open Access6 Scopus citations -
A Convergent Mixed-Methods Exploration of the Effects of Community-Engaged Coursework on Graduate Student Learning
Dinour, L. M., Szaro, J., Blumberg, R. & Bose, M., Jun 2018, In: Journal of Nutrition Education and Behavior. 50, 6, p. 598-609 12 p.Research output: Contribution to journal › Article › peer-review
4 Scopus citations -
A metabolomic map of Zellweger spectrum disorders reveals novel disease biomarkers
Wangler, M. F., Hubert, L., Donti, T. R., Ventura, M. J., Miller, M. J., Braverman, N., Gawron, K., Bose, M., Moser, A. B., Jones, R. O., Rizzo, W. B., Sutton, V. R., Sun, Q., Kennedy, A. D. & Elsea, S. H., 1 Oct 2018, In: Genetics in Medicine. 20, 10, p. 1274-1283 10 p.Research output: Contribution to journal › Article › peer-review
23 Scopus citations