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...

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Detalles Bibliográficos
Autores principales: Potter, Jane E., Petts, Gemma, Ghosh, Arunabha, White, Fiona J., Kinsella, Jane L., Hughes, Stephen, Roberts, Jane, Hodgkinson, Adam, Brammeier, Kathryn, Church, Heather, Merrigan, Christine, Hughes, Joanne, Evans, Pamela, Campbell, Helen, Bonney, Denise, Newman, William G., Bigger, Brian W., Broomfield, Alexander, Jones, Simon A., Wynn, Robert F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research
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

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