Congenital Disorders of Glycosylation

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Alharbi, H., Daniel, E. J. P., Thies, J., Chang, I., Goldner, D. L., Ng, B. G., Witters, P., Aqul, A., Velez‐Bartolomei, F., Enns, G. M., Hsu, E., Kichula, E., Lee, E., Lourenco, C., Poskanzer, S. A., Rasmussen, S., Saarela, K., Wang, Y. M., Raymond, K. M., … He, M. (2023). Fractionated plasma N‐glycan profiling of novel cohort of ATP6AP1‐CDG subjects identifies phenotypic association. Journal of Inherited Metabolic Disease, 46(2), 300–312. Portico. https://doi.org/10.1002/jimd.12589
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Barua, S., Berger, S., Pereira, E. M., & Jobanputra, V. (2022). Expanding the phenotype of ATP6AP1 deficiency. Molecular Case Studies, 8(4), a006195. https://doi.org/10.1101/mcs.a006195
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