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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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Publicat a:Appl Clin Genet
Autor principal: Bindu, Parayil Sankaran
Format: Artigo
Idioma:Inglês
Publicat: Dove 2020
Matèries:
Accés en línia: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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