Sjogren-Larsson Syndrome: Mechanisms and Management [PDF]
The Application of Clinical Genetics, 2020 Parayil Sankaran Bindu TY Nelson Department of Neurology and Neurosurgery, Children’s Hospital at Westmead, Sydney, NSW, AustraliaCorrespondence: Parayil Sankaran Bindu Email Bindu.parayilsankaran@health.nsw.gov.auAbstract: Sjogren Larsson syndrome
Bindu PS
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Beyond retina in Sjogren–Larsson syndrome [PDF]
Indian Journal of Ophthalmology, 2022 Neelam Pawar +5 more
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A rare case of Sjogren-Larsson syndrome with recurrent pneumonia and asthma [PDF]
Korean Journal of Pediatrics, 2016 Sjogren-Larsson syndrome (SLS) is a rare autosomal recessive neurocutaneous disorder with worldwide incidence of 0.4 per 100,000 people. It is characterized by the triad of congenital ichthyosis, spastic diplegia or quadriplegia, and mental retardation ...
Azita Tavasoli +2 more
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Sjogren-Larsson syndrome: A case report of a rare disease
Indian Dermatology Online Journal, 2011 We report a case of Sjogren-Larsson syndrome with clinical profile (spastic diplegia, icthyosis, mental retardation) and imaging findings on magnetic resonance imaging.
S P Gupta +3 more
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Sjogren-Larsson syndrome brain volumetric reductions demonstrated with an automated software [PDF]
Arquivos de Neuro-Psiquiatria, 2023 Background Sjogren-Larsson syndrome (SLS) is a neurocutaneous disease with an autosomal recessive inheritance, caused by mutations in the gene that encodes fatty aldehyde dehydrogenase (ALDH3A2), clinically characterized by ichthyosis, spastic
José Thiago de Souza de Castro +6 more
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Retinal Capillary Abnormalities in Sjögren-Larsson Syndrome Maculopathy [PDF]
Case Reports in Ophthalmology, 2022 Sjögren-Larsson syndrome (SLS) is a neurometabolic disease with a peculiar crystalline maculopathy. It is yet unclear if vascular abnormalities play a role in SLS maculopathy pathogenesis.
Pippa Staps +4 more
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Sjögren-Larsson syndrome: A biochemical rationale for using aldehyde-reactive therapeutic agents [PDF]
Molecular Genetics and Metabolism Reports, 2022 Sjögren-Larsson syndrome (SLS) is a neurocutaneous disease caused by mutations in ALDH3A2 that result in deficient fatty aldehyde dehydrogenase (FALDH) activity and impaired fatty aldehyde and fatty alcohol oxidation.
William B. Rizzo +3 more
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Untargeted Metabolomic Analysis of Sjögren–Larsson Syndrome Reveals a Distinctive Pattern of Multiple Disrupted Biochemical Pathways [PDF]
Metabolites, 2023 Sjögren–Larsson syndrome (SLS) is a rare inherited neurocutaneous disease characterized by ichthyosis, spastic diplegia or tetraplegia, intellectual disability and a distinctive retinopathy.
Hongying Daisy Dai +4 more
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Neurodegeneration in an adolescent with Sjogren-Larsson syndrome: a decade-long follow-up case report [PDF]
BMC Medical Genetics, 2018 Background Sjogren-Larsson syndrome is a hereditary neurocutaneous syndrome that is non-progressive in nature. Although neuroregression has been reported in seizure-prone preschool children requiring anti-epileptic treatment, teenage-onset dystonia ...
Kye Hee Cho +4 more
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Sjögren‐Larsson syndrome: The mild end of the phenotypic spectrum [PDF]
JIMD Reports, 2020 Sjögren‐Larsson syndrome (SLS) is a rare inborn error of lipid metabolism. The syndrome is caused by mutations in the ALDH3A2 gene, resulting in a deficiency of fatty aldehyde dehydrogenase.
Pippa Staps +8 more
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