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Enzyme replacement therapy and hematopoietic stem cell transplant: a new paradigm of treatment in Wolman disease
BACKGROUND: Wolman disease is a rare, lysosomal storage disorder in which biallelic variants in the LIPA gene result in reduced or complete lack of lysosomal acid lipase. The accumulation of the substrates; cholesterol esters and triglycerides, significantly impacts cellular function. Untreated pati...
Autores principales: | , , , , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8139039/ https://www.ncbi.nlm.nih.gov/pubmed/34020687 http://dx.doi.org/10.1186/s13023-021-01849-7 |