Results 11 to 20 of about 2,293 (174)
Karl Gustaf Torsten Sjögren and the Sjögren-Larsson syndrome [PDF]
Dermatology Reports, 2011 Karl Gustaf Torsten Sjögren (1896-1974) a Swedish psychiatrist and geneticist, was a pioneer of modern Swedish psychiatry. Sjögren studied medicine at the University of Uppsala.
Khalid Al Aboud, Daifullah Al Aboud
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Atypical Presentation of Sjögren-Larsson Syndrome [PDF]
Case Reports in Pediatrics, 2017 Sjögren-Larsson syndrome is a rare neurocutaneous disorder characterized by ichthyosis, spastic diplegia or tetraplegia, and intellectual disability. Herein, we describe a case of a Greek patient with ichthyosis and spasticity of the legs but with normal
D. Papathemeli +6 more
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Sjogren - Larsson Syndrome. [PDF]
Med J Armed Forces India, 2002 Sjogren-Larsson Syndrome is a rare autosomal disorder which occurs with 100% penetrance and is classically characterized by ichthyosis, spasticity and mental handicap. This has rarely been described in people of Indian origin, case reports mainly being restricted to Caucasians.
Dubey AK, Gupta RK, Gupta A.
europepmc +6 more sources
Sjogren–Larsson Syndrome: A case series of five members from an extended family with a novel mutation [PDF]
Molecular Genetics & Genomic Medicine, 2020 Backgroundd Sjogren–Larsson syndrome (SLS) is a rare autosomal recessive disorder, characterized by a triad of spastic tetraplegia or diplegia, congenital ichthyosis, and intellectual disability.
Kamel T. Abidi +5 more
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Identification of a novel deletion within ALDH3A2 gene in an Iranian Family with Sjögren–Larsson Syndrome [PDF]
Clinical Case Reports, 2018 Key Clinical Message Sjögren–Larsson syndrome (SLS) is a rare type of congenital ichthyosis with neurological problems and intellectual disability. Homozygous mutations in ALDH3A2 gene are known to be responsible for this syndrome.
Maryam Taghdiri +3 more
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OPHTHALMIC FINDINGS IN LATE STAGE SJOGREN-LARSSON SYNDROME. [PDF]
Retin Cases Brief Rep, 2019 Purpose: To report spectral domain optical coherence tomography and fundus autofluorescence documentation of late stage macular findings associated with Sjogren–Larsson Syndrome in three adult siblings. Methods: Three adult siblings with Sjogren–Larsson Syndrome underwent ophthalmic
Nanda T, Kovach JL.
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Sjögren-Larsson syndrome: A study of clinical symptoms in six children
Indian Dermatology Online Journal, 2014 Sjögren-Larsson syndrome (SLS) is a rare autosomal recessive disorder characterized by triad of congenital ichthyosis, spastic paresis, and mental retardation.
Sahana M Srinivas +2 more
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Sjogren-Larsson syndrome: A rare neurocutaneous disorder.
J Pediatr Neurosci, 2016 Sjogren-Larsson syndrome is an autosomal recessive disorder characterized by defective activity of fatty aldehyde dehydrogenase. It presents as a triad of congenital ichthyosis, spastic diplegia, and mental retardation. The pathology behind this syndrome is the failure of degradation of fatty aldehydes. This case is presented for its rarity.
Subramanian V, Hariharan P, Balaji J.
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Sjögren: unique surname, two men, four syndromes and one disease [PDF]
Arquivos de Neuro-PsiquiatriaHenrik and Torsten Sjögren (/ˈʃoʊɡrən/ or SHOH–grən) were two Swedish physicians living in the same period, but completely unrelated, except for their notable contributions to Medicine. The first one described keratoconjunctivitis sicca, afterward called
José Vitor Alécio Rodrigues +7 more
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A Turkish family with Sjögren-Larsson syndrome caused by a novel ALDH3A2 mutation
Annals of Indian Academy of Neurology, 2013 Sjögren-Larsson syndrome (SLS) is an inherited neurocutaneous disorder caused by mutations in the aldehyde dehydrogenase family 3 member A2 (ALDH3A2) gene that encodes fatty aldehyde dehydrogenase. Affected patients display ichthyosis, mental retardation,
Faruk Incecik +3 more
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