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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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| Publicado en: | Hepat Med |
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| Autores principales: | , , , |
| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
Dove
2019
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| Materias: | |
| Acceso en línea: | 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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