Untargeted Metabolomic Analysis of Sjögren–Larsson Syndrome Reveals a Distinctive Pattern of Multiple Disrupted Biochemical Pathways

Sjögren–Larsson syndrome (SLS) is a rare inherited neurocutaneous disease characterized by ichthyosis, spastic diplegia or tetraplegia, intellectual disability and a distinctive retinopathy. SLS is caused by bi-allelic mutations in ALDH3A2, which codes for fatty aldehyde dehydrogenase (FALDH) and re...

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Detalles Bibliográficos
Autores principales: Dai, Hongying Daisy, Qiu, Fang, Jackson, Kimberly, Fruttiger, Marcus, Rizzo, William B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10301067/
https://www.ncbi.nlm.nih.gov/pubmed/37367841
http://dx.doi.org/10.3390/metabo13060682

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10301067/
https://www.ncbi.nlm.nih.gov/pubmed/37367841
http://dx.doi.org/10.3390/metabo13060682

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