Enzyme replacement therapy in lysosomal acid lipase deficiency (LAL-D): a systematic literature review

BACKGROUND: Lysosomal acid lipase deficiency (LAL-D) is a very rare genetic abnormality caused by LIPA gene mutation. The disease has two distinct clinical variants in humans: Wolman disease in infants and cholesteryl ester storage disease in children and adults. Both conditions are characterized by...

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Detalles Bibliográficos
Autores principales: Bashir, Aamir, Tiwari, Pramil, Duseja, Ajay
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2021
Materias:
Systematic Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10032452/
https://www.ncbi.nlm.nih.gov/pubmed/37181111
http://dx.doi.org/10.1177/26330040211026928

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10032452/
https://www.ncbi.nlm.nih.gov/pubmed/37181111
http://dx.doi.org/10.1177/26330040211026928

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