Clinical outcome of a patient with lysosomal acid lipase deficiency and first results after initiation of treatment with Sebelipase alfa: A case report

We report on a case of very rare autosomal recessive cholesteryl ester storage disease due to lysosomal acid lipase deficiency (LALD). LALD is caused by mutations in the lysosomal acid lipase A (LIPA) gene resulting in cholesteryl ester accumulation in liver, spleen, and macrophages. It can lead to...

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Detalhes bibliográficos
Publicado no:Mol Genet Metab Rep
Main Authors: Soll, Dominik, Spira, Dominik, Hollstein, Tim, Haberbosch, Linus, Demuth, Ilja, Steinhagen-Thiessen, Elisabeth, Bobbert, Thomas, Spranger, Joachim, Kassner, Ursula
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2019
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6587018/
https://ncbi.nlm.nih.gov/pubmed/31249784
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2019.100479
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