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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Cow's milk allergy in children impacts parental or caregiver calcium intake
Dubrovsky, I., Bose, M., Miller, J. & Kerrihard, A. L., Feb 2023, In: Nutrition Research. 110, p. 66-73 8 p.Research output: Contribution to journal › Article › peer-review
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Characterization of Severity in Zellweger Spectrum Disorder by Clinical Findings: A Scoping Review, Meta-Analysis and Medical Chart Review
Bose, M., Yergeau, C., D’souza, Y., Cuthbertson, D. D., Lopez, M. J., Smolen, A. K. & Braverman, N. E., 1 Jun 2022, In: Cells. 11, 12, 1891.Research output: Contribution to journal › Review article › peer-review
Open Access5 Scopus citations -
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 Access4 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 Access9 Scopus citations