Journal of Inherited Metabolic Disease
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Liang, H., Zhan, X., Wang, Y., Maegawa, G. H. B., & Zhang, H. (2023). Development and validation of a new genotype–phenotype correlation for Niemann‐Pick disease type C1. Journal of Inherited Metabolic Disease, 47(2), 317–326. Portico. https://doi.org/10.1002/jimd.12705
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Columbia Affiliation
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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Columbia Affiliation
Ganapathi, M., Friocourt, G., Gueguen, N., Friederich, M. W., Le Gac, G., Okur, V., Loaëc, N., Ludwig, T., Ka, C., Tanji, K., Marcorelles, P., Theodorou, E., Lignelli‐Dipple, A., Voisset, C., Walker, M. A., Briere, L. C., Bourhis, A., Blondel, M., LeDuc, C., … Chung, W. K. (2022). A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families. Journal of Inherited Metabolic Disease, 45(5), 996–1012. Portico. https://doi.org/10.1002/jimd.12526
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Columbia Affiliation
Yi, M., Wang, Y., Gao, X., Han, L., Qiu, W., Gu, X., Maegawa, G. H. B., & Zhang, H. (2022). Investigation of GALNS variants and genotype–phenotype correlations in a large cohort of patients with mucopolysaccharidosis type IVA. Journal of Inherited Metabolic Disease, 45(3), 593–604. Portico. https://doi.org/10.1002/jimd.12491
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Columbia Affiliation