Ciliopathy: Sjögren-Larsson Syndrome.
Sign Up to like & getrecommendations! Published in 2018 at "Advances in experimental medicine and biology"
DOI: 10.1007/978-3-319-95046-4_36
Abstract: Glistening yellow-white crystalline inclusions in foveal and parafoveal areas are almost pathognomonic (Fig. 36.1). These inclusions are evident at 1-2 years old and increase with age. Patients may have corneal stromal opacities, punctate keratitis, myopia,… read more here.
Keywords: ciliopathy gren; larsson syndrome; biology; gren larsson ... See more keywords
Clinical, biochemical, and genetic aspects of Sjögren‐Larsson syndrome
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DOI: 10.1111/cge.13058
Abstract: Sjögren‐Larsson syndrome (SLS) is caused by an autosomal recessive mutation in ALDH3A2, which encodes the fatty aldehyde dehydrogenase responsible for the metabolism of long‐chain aliphatic aldehydes and alcohols. The pathophysiologic accumulation of aldehydes in various… read more here.
Keywords: clinical biochemical; larsson syndrome; genetic aspects; gren larsson ... See more keywords
A Neurodegenerative Phenotype Associated With Sjögren-Larsson Syndrome
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Child Neurology"
DOI: 10.1177/08830738211029390
Abstract: Sjögren-Larsson syndrome (SLS) is a rare neurologic disorder caused by pathogenic sequence variants in ALDH3A2 and characterized by ichthyosis, spasticity, intellectual disability, and a crystalline retinopathy. Neurologic symptoms develop in the first 2 years of… read more here.
Keywords: associated gren; neurodegenerative phenotype; larsson syndrome; gren larsson ... See more keywords
Understanding fetal factors that contribute to preterm birth: Sjögren-Larsson syndrome as a model
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Perinatal Medicine"
DOI: 10.1515/jpm-2017-0187
Abstract: Abstract Aim: Preterm birth is the world’s leading cause of neonatal death. Unfortunately, the pathophysiology of preterm birth remains poorly understood. Sjögren-Larsson syndrome is a rare, neurometabolic disorder caused by a fatty aldehyde dehydrogenase deficiency.… read more here.
Keywords: preterm birth; birth; larsson syndrome; born preterm ... See more keywords
Untargeted Metabolomic Analysis of Sjögren–Larsson Syndrome Reveals a Distinctive Pattern of Multiple Disrupted Biochemical Pathways
Sign Up to like & getrecommendations! Published in 2023 at "Metabolites"
DOI: 10.3390/metabo13060682
Abstract: 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… read more here.
Keywords: biochemical pathways; gren larsson; larsson syndrome; analysis ... See more keywords