Projects per year
Fingerprint
Collaborations and top research areas from the last five years
Profiles
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Susan A Berry, Professor
- Pediatrics - Genetics and Metabolism - Professor
- Ophthalmology & Visual Neurosciences - Professor
Person: Faculty, Medical School Affiliate
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Long-Term Follow-up of Fabry Disease Subjects who have Undergone IV Infusion with ST-920, an rAAV2/6 Human Alpha Galactosidase A Gene Therapy
Whitley, C. B., Diethelm-Okita, B. M., Jarnes, J. R. & Miller, B. S.
12/4/23 → 11/30/30
Project: Research project
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Collection of Gene Mutations for Laboratory Quality Assurance: Newborn Screening Accuracy Project
SEQUOIA FOUNDATION, CENTERS FOR DISEASE CONTROL & PREVENTION
5/15/23 → 5/14/28
Project: Research project
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Ability change across multiple domains in mucopolysaccharidosis (Sanfilippo syndrome) type IIIA
Shapiro, E. G., Eisengart, J. B., Whiteman, D. & Whitley, C. B., 2024, (Accepted/In press) In: Molecular Genetics and Metabolism. 108110.Research output: Contribution to journal › Article › peer-review
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Arteriovenous malformations as a presenting sign of PTEN hamartoma tumor syndrome: A case series
Dykman, M., Pillai, N. R., Lenhart, K., Nicholson, C., Boull, C., Fritz, E., Flanagan, S. & Maguiness, S., Mar 1 2024, In: Pediatric Dermatology. 41, 2, p. 292-295 4 p.Research output: Contribution to journal › Article › peer-review
Open Access -
Biochemical signatures of disease severity in multiple sulfatase deficiency
Adang, L. A., Mowafy, S., Herbst, Z. M., Zhou, Z., Schlotawa, L., Radhakrishnan, K., Bentley, B., Pham, V., Yu, E., Pillai, N. R., Orchard, P. J., De Castro, M., Vanderver, A., Pasquali, M., Gelb, M. H. & Ahrens-Nicklas, R. C., Mar 2024, In: Journal of Inherited Metabolic Disease. 47, 2, p. 374-386 13 p.Research output: Contribution to journal › Article › peer-review
1 Scopus citations
Activities
- 1 Types of Award - Prize (including medals and awards)
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Doctoral Dissertation Fellowship
Li Ou (Recipient)
Sep 2015 → Aug 2016Activity: Other activity types › Types of Award - Prize (including medals and awards)
Fellowships, Honors, and Prizes
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American Society of Gene and Cell Therapy Travel Award
Ou, Li (Recipient), May 2016
Prize: Prize (including medals and awards)
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Baosteel Fellowship for Excellent Students
Ou, Li (Recipient), 2009
Prize: Prize (including medals and awards)
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NIH Lysosomal Disease Network Fellow
Ou, Li (Recipient), 2015
Prize: Prize (including medals and awards)