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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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Rare Diseases Clinical Research Consortia (RDCRC) for the Rare Diseases Clinical Research Network (RDCRN)
9/17/19 → 7/31/22
Project: Research project
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Methionine synthase deficiency: Variable clinical presentation and benefit of early diagnosis and treatment
Kripps, K. A., Sremba, L., Larson, A. A., Van Hove, J. L. K., Nguyen, H., Wright, E. L., Mirsky, D. M., Watkins, D., Rosenblatt, D. S., Ketteridge, D., Berry, S. A., McCandless, S. E. & Baker, P. R., Mar 2022, In: Journal of Inherited Metabolic Disease. 45, 2, p. 157-168 12 p.Research output: Contribution to journal › Article › peer-review
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Rare presentation of FDX2-related disorder and untargeted global metabolomics findings
Aggarwal, A., Pillai, N. R., Billington, C. J., Schema, L. & Berry, S. A., Apr 2022, In: American Journal of Medical Genetics, Part A. 188, 4, p. 1239-1244 6 p.Research output: Contribution to journal › Article › peer-review
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ASL expression in ALDH1A1+ neurons in the substantia nigra metabolically contributes to neurodegenerative phenotype
Members of the UCDC, Oct 2021, In: Human Genetics. 140, 10, p. 1471-1485 15 p.Research output: Contribution to journal › Article › peer-review
Open Access -
Cobalamin J disease detected on newborn screening: Novel variant and normal neurodevelopmental course
Pillai, N. R., Miller, D., Pierpont, E. I., Berry, S. A. & Aggarwal, A., Jun 2021, In: American Journal of Medical Genetics, Part A. 185, 6, p. 1870-1874 5 p.Research output: Contribution to journal › Article › peer-review
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Glycerol phenylbutyrate efficacy and safety from an open label study in pediatric patients under 2 months of age with urea cycle disorders
Longo, N., Diaz, G. A., Lichter-Konecki, U., Schulze, A., Inbar-Feigenberg, M., Conway, R. L., Bannick, A. A., McCandless, S. E., Zori, R., Hainline, B., Ah Mew, N., Canavan, C., Vescio, T., Kok, T., Porter, M. H. & Berry, S. A., Jan 2021, In: Molecular Genetics and Metabolism. 132, 1, p. 19-26 8 p.Research output: Contribution to journal › Article › peer-review
Open Access3 Scopus citations