肝醣儲積症精準檢測套組
肝醣儲積症（Glycogen Storage Diseases，俗稱GSD）是一類遺傳性疾病，由編碼肝醣合成酶和降解酶的基因突變所造成的肝醣代謝錯誤所引起。
Ellingwood, S. S., & Cheng, A. (2018). Biochemical and clinical aspects of glycogen storage diseases. The Journal of endocrinology, 238(3), R131–R141. https://doi.org/10.1530/JOE-18-0120
Hicks, J., Wartchow, E., & Mierau, G. (2011). Glycogen storage diseases: a brief review and update on clinical features, genetic abnormalities, pathologic features, and treatment. Ultrastructural pathology, 35(5), 183–196. https://doi.org/10.3109/01913123.2011.601404
Kishnani, P. S., Sun, B., & Koeberl, D. D. (2019). Gene therapy for glycogen storage diseases. Human molecular genetics, 28(R1), R31–R41. https://doi.org/10.1093/hmg/ddz133
Ross, K. M., Ferrecchia, I. A., Dahlberg, K. R., Dambska, M., Ryan, P. T., & Weinstein, D. A. (2020). Dietary Management of the Glycogen Storage Diseases: Evolution of Treatment and Ongoing Controversies. Advances in nutrition (Bethesda, Md.), 11(2), 439–446. https://doi.org/10.1093/advances/nmz092
Kishnani, P. S., Goldstein, J., Austin, S. L., Arn, P., Bachrach, B., Bali, D. S., Chung, W. K., El-Gharbawy, A., Brown, L. M., Kahler, S., Pendyal, S., Ross, K. M., Tsilianidis, L., Weinstein, D. A., Watson, M. S., & ACMG Work Group on Diagnosis and Management of Glycogen Storage Diseases Type VI and IX (2019). Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). Genetics in medicine : official journal of the American College of Medical Genetics, 21(4), 772–789. https://doi.org/10.1038/s41436-018-0364-2
Derks, T., Oosterveer, M. H., & De Souza, C. F. (2018). Next-generation glycogen storage diseases. Journal of inherited metabolic disease, 41(6), 911–912. https://doi.org/10.1007/s10545-018-00250-0
