Sjögren-Larsson syndrome: A study of clinical symptoms in six children

Sjögren-Larsson syndrome (SLS) is a rare autosomal recessive disorder characterized by triad of congenital ichthyosis, spastic paresis, and mental retardation. It is an inborn error of lipid metabolism caused by deficiency of the enzyme fatty aldehyde dehydrogenase. We report our observations of six...

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Autores principales: Srinivas, Sahana M., Raju, KN Vykunta, Hiremagalore, Ravi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4030352/
https://www.ncbi.nlm.nih.gov/pubmed/24860759
http://dx.doi.org/10.4103/2229-5178.131099
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author Srinivas, Sahana M.
Raju, KN Vykunta
Hiremagalore, Ravi
author_facet Srinivas, Sahana M.
Raju, KN Vykunta
Hiremagalore, Ravi
author_sort Srinivas, Sahana M.
collection PubMed
description Sjögren-Larsson syndrome (SLS) is a rare autosomal recessive disorder characterized by triad of congenital ichthyosis, spastic paresis, and mental retardation. It is an inborn error of lipid metabolism caused by deficiency of the enzyme fatty aldehyde dehydrogenase. We report our observations of six children with SLS.
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spelling pubmed-40303522014-05-23 Sjögren-Larsson syndrome: A study of clinical symptoms in six children Srinivas, Sahana M. Raju, KN Vykunta Hiremagalore, Ravi Indian Dermatol Online J Case Report Sjögren-Larsson syndrome (SLS) is a rare autosomal recessive disorder characterized by triad of congenital ichthyosis, spastic paresis, and mental retardation. It is an inborn error of lipid metabolism caused by deficiency of the enzyme fatty aldehyde dehydrogenase. We report our observations of six children with SLS. Medknow Publications & Media Pvt Ltd 2014 /pmc/articles/PMC4030352/ /pubmed/24860759 http://dx.doi.org/10.4103/2229-5178.131099 Text en Copyright: © Indian Dermatology Online Journal http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Srinivas, Sahana M.
Raju, KN Vykunta
Hiremagalore, Ravi
Sjögren-Larsson syndrome: A study of clinical symptoms in six children
title Sjögren-Larsson syndrome: A study of clinical symptoms in six children
title_full Sjögren-Larsson syndrome: A study of clinical symptoms in six children
title_fullStr Sjögren-Larsson syndrome: A study of clinical symptoms in six children
title_full_unstemmed Sjögren-Larsson syndrome: A study of clinical symptoms in six children
title_short Sjögren-Larsson syndrome: A study of clinical symptoms in six children
title_sort sjögren-larsson syndrome: a study of clinical symptoms in six children
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4030352/
https://www.ncbi.nlm.nih.gov/pubmed/24860759
http://dx.doi.org/10.4103/2229-5178.131099
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