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Page 1
Sjogren-Larsson syndrome.
Dutra LA, Braga-Neto P, Pedroso JL, Povoas Barsottini OG. Dutra LA, et al. Adv Exp Med Biol. 2012;724:344-50. doi: 10.1007/978-1-4614-0653-2_26. Adv Exp Med Biol. 2012. PMID: 22411255 Review.
Sjogren-Larsson syndrome is a rare disease characterized by the occurrence of mental retardation, spastic diplegia and ichthyosis. ...
Sjogren-Larsson syndrome is a rare disease characterized by the occurrence of mental retardation, spastic diplegia and …
Inherited ichthyosis: Syndromic forms.
Yoneda K. Yoneda K. J Dermatol. 2016 Mar;43(3):252-63. doi: 10.1111/1346-8138.13284. J Dermatol. 2016. PMID: 26945533 Review.
Although these syndromes are very rare, Netherton syndrome, Sjogren-Larsson syndrome, Conradi-Hunermann-Happle syndrome, Dorfman-Chanarin syndrome, ichthyosis follicularis, atrichia and photophobia (IFAP) syndrome, and Refsum syndrome have been described in t …
Although these syndromes are very rare, Netherton syndrome, Sjogren-Larsson syndrome, Conradi-Hunermann-Happle syndrome …
Sjogren-Larsson syndrome.
Gordon N. Gordon N. Dev Med Child Neurol. 2007 Feb;49(2):152-4. doi: 10.1111/j.1469-8749.2007.00152.x. Dev Med Child Neurol. 2007. PMID: 17254005 Free article. Review.
Sjogren-Larsson syndrome is a recessively inherited syndrome caused by deficiency of fatty aldehyde dehydrogenase. ...
Sjogren-Larsson syndrome is a recessively inherited syndrome caused by deficiency of fatty aldehyde dehydrogenase. ...
Clinical, biochemical, and genetic aspects of Sjogren-Larsson syndrome.
Cho KH, Shim SH, Kim M. Cho KH, et al. Clin Genet. 2018 Apr;93(4):721-730. doi: 10.1111/cge.13058. Epub 2017 Sep 17. Clin Genet. 2018. PMID: 28543186 Review.
Sjogren-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. ...
Sjogren-Larsson syndrome (SLS) is caused by an autosomal recessive mutation in ALDH3A2, which encodes the fatty aldehyd …
Beyond retina in Sjogren-Larsson syndrome.
Pawar N, Meenakshi R, Maheshwari D, Fathima A, Chakrabarty S, Paranjape M. Pawar N, et al. Indian J Ophthalmol. 2022 Jul;70(7):2727-2728. doi: 10.4103/ijo.IJO_2994_21. Indian J Ophthalmol. 2022. PMID: 35791223 Free PMC article. No abstract available.
Sjogren-Larsson syndrome in clinical practice.
Fuijkschot J, Theelen T, Seyger MM, van der Graaf M, de Groot IJ, Wevers RA, Wanders RJ, Waterham HR, Willemsen MA. Fuijkschot J, et al. J Inherit Metab Dis. 2012 Nov;35(6):955-62. doi: 10.1007/s10545-012-9518-6. Epub 2012 Jul 26. J Inherit Metab Dis. 2012. PMID: 22833178 Review.
This review article gives a state-of-the-art synopsis of current pathophysiological concepts in Sjogren-Larsson syndrome (SLS) mainly based upon original research data of the authors in one of the world's largest clinical SLS study cohorts. ...
This review article gives a state-of-the-art synopsis of current pathophysiological concepts in Sjogren-Larsson syndrome …
Genotype and phenotype variability in Sjogren-Larsson syndrome.
Weustenfeld M, Eidelpes R, Schmuth M, Rizzo WB, Zschocke J, Keller MA. Weustenfeld M, et al. Hum Mutat. 2019 Feb;40(2):177-186. doi: 10.1002/humu.23679. Epub 2018 Nov 26. Hum Mutat. 2019. PMID: 30372562 Free PMC article.
The Sjogren-Larsson syndrome (SLS) is a rare autosomal recessive disorder caused by pathogenic variants in the ALDH3A2 gene, which codes for fatty aldehyde dehydrogenase (FALDH). ...
The Sjogren-Larsson syndrome (SLS) is a rare autosomal recessive disorder caused by pathogenic variants in the ALDH3A2 …
Sjogren-Larsson syndrome: a complex metabolic disease with a distinctive ocular phenotype.
Fouzdar-Jain S, Suh DW, Rizzo WB. Fouzdar-Jain S, et al. Ophthalmic Genet. 2019 Aug;40(4):298-308. doi: 10.1080/13816810.2019.1660379. Epub 2019 Sep 12. Ophthalmic Genet. 2019. PMID: 31512987 Review.
Purpose: Sjogren-Larsson Syndrome (SLS) is a rare genetic disorder characterized by a distinctive crystalline maculopathy, congenital ichthyosis, spasticity and intellectual disability. ...
Purpose: Sjogren-Larsson Syndrome (SLS) is a rare genetic disorder characterized by a distinctive crystalline maculopat …
Sjogren-Larsson syndrome.
Sood M, Trehan A, Dinakaran J, Marwaha RK. Sood M, et al. Indian J Pediatr. 2002 Feb;69(2):193-4. doi: 10.1007/BF02859387. Indian J Pediatr. 2002. PMID: 11929038
Sjogren-Larsson Syndrome is a rare autosomal disorder which occurs with 100% penetrance and is classically characterized by ichthyosis, spasticity and mental handicap. ...
Sjogren-Larsson Syndrome is a rare autosomal disorder which occurs with 100% penetrance and is classically characterize …
Inherited ichthyoses: a review of the histology of the skin.
Scheimberg I, Harper JI, Malone M, Lake BD. Scheimberg I, et al. Pediatr Pathol Lab Med. 1996 May-Jun;16(3):359-78. doi: 10.1080/15513819609168677. Pediatr Pathol Lab Med. 1996. PMID: 9025839 Review.
Some ichthyoses can be recognized on routine hematoxylin and eosin staining (bullous ichthyosiform erythroderma, Netherton's syndrome, and neutral lipid storage disease); some forms require frozen sections to demonstrate fat (neutral lipid storage disease) or enzyme activity ( …
Some ichthyoses can be recognized on routine hematoxylin and eosin staining (bullous ichthyosiform erythroderma, Netherton's syndrome, and n …
130 results