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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,…
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Keywords:
ciliopathy gren;
larsson syndrome;
biology;
gren larsson ... See more keywords
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Published in 2018 at "Clinical Genetics"
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…
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Keywords:
clinical biochemical;
larsson syndrome;
genetic aspects;
gren larsson ... See more keywords
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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…
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Keywords:
associated gren;
neurodegenerative phenotype;
larsson syndrome;
gren larsson ... See more keywords
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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.…
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Keywords:
preterm birth;
birth;
larsson syndrome;
born preterm ... See more keywords
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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…
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Keywords:
biochemical pathways;
gren larsson;
larsson syndrome;
analysis ... See more keywords
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Published in 2022 at "Indian Journal of Ophthalmology"
DOI: 10.4103/ijo.ijo_2994_21
Abstract: Sjogren–Larsson syndrome (SLS) is a triad of generalized ichthyosis, mental retardation, and spastic paralysis caused by accumulation of fatty aldehydes and fatty alcohols in body tissues.[1] The pathognomonic ocular manifestations include crystalline juvenile macular dystrophy,…
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Keywords:
ophthalmology;
larsson syndrome;
retina sjogren;
sjogren larsson ... See more keywords