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Lysosomal acid lipase deficiency – early diagnosis is the key

Lysosomal acid lipase deficiency (LAL-D) is an ultra-rare lysosomal storage disease that may present from infancy to late adulthood depending on residual enzyme activity. While the severe form manifests as a rapidly progressive disease with near universal mortality within the first 6 months of life,...

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Detalhes bibliográficos
Publicado no:Hepat Med
Main Authors: Strebinger, Georg, Müller, Elena, Feldman, Alexandra, Aigner, Elmar
Formato: Artigo
Idioma:Inglês
Publicado em: Dove 2019
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6536894/
https://ncbi.nlm.nih.gov/pubmed/31213932
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2147/HMER.S201630
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