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Coenzyme A replenishment as a therapeutic strategy for inborn errors of metabolism
Project: Research project
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Abnormal Brain Iron Accumulation is a Rare Finding in Down Syndrome Regression Disorder
Gregory, A., Wilson, J. L., Hogarth, P. & Hayflick, S. J., Jan 2023, In: Pediatric Neurology. 138, p. 1-4 4 p.Research output: Contribution to journal › Article › peer-review
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Clinical implementation of RNA sequencing for Mendelian disease diagnostics
Yépez, V. A., Gusic, M., Kopajtich, R., Mertes, C., Smith, N. H., Alston, C. L., Ban, R., Beblo, S., Berutti, R., Blessing, H., Ciara, E., Distelmaier, F., Freisinger, P., Häberle, J., Hayflick, S. J., Hempel, M., Itkis, Y. S., Kishita, Y., Klopstock, T., Krylova, T. D., & 33 others, Dec 2022, In: Genome Medicine. 14, 1, 38.Research output: Contribution to journal › Article › peer-review
Open Access11 Scopus citations -
Coenzyme A precursors flow from mother to zygote and from microbiome to host
Yu, Y., van der Zwaag, M., Wedman, J. J., Permentier, H., Plomp, N., Jia, X., Kanon, B., Eggens-Meijer, E., Buist, G., Harmsen, H., Kok, J., Salles, J. F., Wertheim, B., Hayflick, S. J., Strauss, E., Grzeschik, N. A., Schepers, H. & Sibon, O. C. M., Jul 21 2022, In: Molecular Cell. 82, 14, p. 2650-2665.e12Research output: Contribution to journal › Article › peer-review
2 Scopus citations -
Pantothenate kinase 2 interacts with PINK1 to regulate mitochondrial quality control via acetyl-CoA metabolism
Huang, Y., Wan, Z., Tang, Y., Xu, J., Laboret, B., Nallamothu, S., Yang, C., Liu, B., Lu, R. O., Lu, B., Feng, J., Cao, J., Hayflick, S., Wu, Z. & Zhou, B., Dec 2022, In: Nature communications. 13, 1, 2412.Research output: Contribution to journal › Article › peer-review
Open Access3 Scopus citations -
PKAN pathogenesis and treatment
Hayflick, S. J., Jeong, S. Y. & Sibon, O. C. M., Nov 2022, In: Molecular Genetics and Metabolism. 137, 3, p. 283-291 9 p.Research output: Contribution to journal › Review article › peer-review