溶小體儲積症精準檢測套組
溶小體儲積症（Lysosomal Storage Diseases，俗稱LSD），是一類由數十種遺傳缺陷所構成的疾病，由溶小體的胞器內未消化或被部分消化的大分子的累積所引起。
Platt, F. M., d’Azzo, A., Davidson, B. L., Neufeld, E. F., & Tifft, C. J. (2018). Lysosomal storage diseases. Nature Reviews Disease Primers, 4(1), 1-17. https://doi.org/10.1038/s41572-018-0025-4
Platt, F., Boland, B., & van der Spoel, A. (2012). Lysosomal storage disorders: The cellular impact of lysosomal dysfunction. Journal Of Cell Biology, 199(5), 723-734. doi: 10.1083/jcb.201208152
Marques, A., & Saftig, P. (2019). Lysosomal storage disorders – challenges, concepts and avenues for therapy: beyond rare diseases. Journal of cell science, 132(2), jcs221739. https://doi.org/10.1242/jcs.221739
Platt, F. M., d’Azzo, A., Davidson, B. L., Neufeld, E. F., & Tifft, C. J. (2018). Lysosomal storage diseases. Nature reviews. Disease primers, 4(1), 27. https://doi.org/10.1038/s41572-018-0025-4
Faverio, P., Stainer, A., De Giacomi, F., Gasperini, S., Motta, S., Canonico, F., Pieruzzi, F., Monzani, A., Pesci, A., & Biondi, A. (2019). Molecular Pathways and Respiratory Involvement in Lysosomal Storage Diseases. International journal of molecular sciences, 20(2), 327. https://doi.org/10.3390/ijms20020327
Platt, F. M., Boland, B., & van der Spoel, A. C. (2012). The cell biology of disease: lysosomal storage disorders: the cellular impact of lysosomal dysfunction. The Journal of cell biology, 199(5), 723–734. https://doi.org/10.1083/jcb.201208152
Parenti, G., Andria, G., & Ballabio, A. (2015). Lysosomal storage diseases: from pathophysiology to therapy. Annual review of medicine, 66, 471–486. https://doi.org/10.1146/annurev-med-122313-085916
