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Sjogren-Larsson Syndrome: Mechanisms and Management
Sjogren Larsson syndrome (SLS) is a rare autosomal recessive inborn error of lipid metabolism due to mutations in the ALDH3A2 that result in a deficiency of fatty aldehyde dehydrogenase (FALDH). The syndrome has a high prevalence in Sweden where it was first described, but now known to occur worldwi...
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| Publicado no: | Appl Clin Genet |
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| Autor principal: | |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Dove
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6954685/ https://ncbi.nlm.nih.gov/pubmed/32021380 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2147/TACG.S193969 |
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