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Detection of Structural Variants by NGS: Revealing Missing Alleles in Lysosomal Storage Diseases
Lysosomal storage diseases (LSDs) are a heterogeneous group of rare multisystem metabolic disorders occurring mostly in infancy and childhood, characterized by a gradual accumulation of non-degraded substrates inside the cells. Although biochemical enzymatic assays are considered the gold standard f...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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MDPI
2022
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9405548/ https://www.ncbi.nlm.nih.gov/pubmed/36009380 http://dx.doi.org/10.3390/biomedicines10081836 |