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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...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
International Scientific Literature, Inc.
2019
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| Materias: | |
| 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 |