Identification of Five Novel Mutations Causing Rare Lysosomal Storage Diseases

BACKGROUND: Lysosomal storage diseases (LSDs), a group of rare inherited metabolic disorders, result from specific lysosomal proteins deficiencies in the degradation of biomacromolecule, including over 70 different diseases, most of which are autosomal recessive. LSDs are multisystem disorders, and...

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Detalles Bibliográficos
Autores principales: Yang, Chenxi, Pan, Jianyan, Linpeng, Siyuan, Li, Zhuo, Tan, Hu, Wu, Lingqian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: International Scientific Literature, Inc. 2019
Materias:
Clinical Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6800466/
https://www.ncbi.nlm.nih.gov/pubmed/31603145
http://dx.doi.org/10.12659/MSM.915876

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6800466/
https://www.ncbi.nlm.nih.gov/pubmed/31603145
http://dx.doi.org/10.12659/MSM.915876

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