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

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 <i>ALDH3A2</i>, which codes for fatty aldehyde dehydroge...

Full description

Bibliographic Details
Main Authors: Hongying Daisy Dai, Fang Qiu, Kimberly Jackson, Marcus Fruttiger, William B. Rizzo
Format: Article
Language:English
Published: MDPI AG 2023-05-01
Series:Metabolites
Subjects:
ichthyosis
spasticity
intellectual disability
fatty aldehyde
fatty alcohol
lipid metabolism
Online Access:https://www.mdpi.com/2218-1989/13/6/682

Internet

https://www.mdpi.com/2218-1989/13/6/682

Similar Items