Literature DB >> 24860759

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

Sahana M Srinivas1, Kn Vykunta Raju2, Ravi Hiremagalore1.   

Abstract

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.

Entities:  

Keywords:  Congenital ichthyosis; mental retardation; spastic paresis

Year:  2014        PMID： 24860759      PMCID： PMC4030352          DOI： 10.4103/2229-5178.131099

Source DB:  PubMed          Journal:  Indian Dermatol Online J        ISSN： 2229-5178


  10 in total

1.  Oligophrenia in combination with congenital ichthyosis and spastic disorders; a clinical and genetic study.

Authors:  T SJOGREN; T LARSSON
Journal:  Acta Psychiatr Neurol Scand Suppl       Date:  1957

Review 2.  Sjögren-Larsson syndrome.

Authors:  Neil Gordon
Journal:  Dev Med Child Neurol       Date:  2007-02       Impact factor: 5.449

3.  MRI and 1H-MRS findings of three patients with Sjögren-Larsson syndrome.

Authors:  Mauro Nakayama; Daniel G F Távora; Thereza C L Alvim; Alexandre C B Araújo; Rômulo L Gama
Journal:  Arq Neuropsiquiatr       Date:  2006-06       Impact factor: 1.420

Review 4.  Update on Sjögren-Larsson syndrome.

Authors:  M Lacour
Journal:  Dermatology       Date:  1996       Impact factor: 5.366

Review 5.  Sjögren-Larsson syndrome: molecular genetics and biochemical pathogenesis of fatty aldehyde dehydrogenase deficiency.

Authors:  William B Rizzo
Journal:  Mol Genet Metab       Date:  2006-09-22       Impact factor: 4.797

6.  Juvenile macular dystrophy associated with deficient activity of fatty aldehyde dehydrogenase in Sjögren-Larsson syndrome.

Authors:  M A Willemsen; J R Cruysberg; J J Rotteveel; A L Aandekerk; P H Van Domburg; A F Deutman
Journal:  Am J Ophthalmol       Date:  2000-12       Impact factor: 5.258

7.  Sjögren-Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene.

Authors:  V De Laurenzi; G R Rogers; D J Hamrock; L N Marekov; P M Steinert; J G Compton; N Markova; W B Rizzo
Journal:  Nat Genet       Date:  1996-01       Impact factor: 38.330

8.  Ichthyosis in the Sjögren-Larsson syndrome.

Authors:  S Jagell; S Lidén
Journal:  Clin Genet       Date:  1982-04       Impact factor: 4.438

9.  Sjögren-Larsson syndrome: motor performance and everyday functioning in 17 patients.

Authors:  Judith Verhoog; Joris Fuijkschot; Michèl Willemsen; Marjolijn Ketelaar; Jan Rotteveel; Jan Willem Gorter
Journal:  Dev Med Child Neurol       Date:  2008-01       Impact factor: 5.449

10.  Sjögren-larsson syndrome: a study of clinical symptoms and dermatological treatment in 34 Swedish patients.

Authors:  Agneta Gånemo; Sten Jagell; Anders Vahlquist
Journal:  Acta Derm Venereol       Date:  2009       Impact factor: 4.437
  10 in total
  2 in total

1.  Intrathecal Baclofen Therapy for the Treatment of Spasticity in Sjögren-Larsson Syndrome.

Authors:  Eveline Teresa Hidalgo; Cordelia Orillac; Andrew Hersh; David H Harter; William B Rizzo; Howard L Weiner
Journal:  J Child Neurol       Date:  2016-10-06       Impact factor: 1.987

2.  Sjogren-Larsson Syndrome: A Rare Case Report.

Authors:  Vrutika Shah; Kinjal Rambhia; Jayesh Mukhi; Rajesh P Singh
Journal:  Indian Dermatol Online J       Date:  2018 Sep-Oct
  2 in total

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