Niemann-Pick Disease, Type C

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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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Chen, J., Soni, R. K., Xu, Y., Simoes, S., Liang, F.-X., DeFreitas, L., Hwang, R., Montesinos, J., Lee, J. H., Area-Gomez, E., Nandakumar, R., Vardarajan, B., & Marquer, C. (2023). Juvenile CLN3 disease is a lysosomal cholesterol storage disorder: similarities with Niemann-Pick type C disease. EBioMedicine, 92, 104628. https://doi.org/10.1016/j.ebiom.2023.104628
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Azab, B., Rabab’h, O., Aburizeg, D., Mohammad, H., Dardas, Z., Mustafa, L., Khasawneh, R. A., Awad, H., Hatmal, M. M., & Altamimi, E. (2022). Potential Composite Digenic Contribution of NPC1 and NOD2 Leading to Atypical Lethal Niemann-Pick Type C with Initial Crohn’s Disease-like Presentation: Genotype-Phenotype Correlation Study. Genes, 13(6), 973. https://doi.org/10.3390/genes13060973
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