Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 Sjögren-Larsson syndrome in clinical practice.

Literature DB >> 22833178

Sjögren-Larsson syndrome in clinical practice.

Joris Fuijkschot¹, Thomas Theelen, Marieke M B Seyger, Marinette van der Graaf, Imelda J M de Groot, Ron A Wevers, Ronald J A Wanders, Hans R Waterham, Michèl A A P Willemsen.

Abstract

This review article gives a state-of-the-art synopsis of current pathophysiological concepts in Sjögren-Larsson syndrome (SLS) mainly based upon original research data of the authors in one of the world's largest clinical SLS study cohorts. Clinical features are discussed in order of appearance, and diagnostic tests are set out to guide the clinician toward the diagnosis SLS. Furthermore, current and future treatment strategies are discussed to render a comprehensive review of the topic.

Entities: Disease

Mesh：

Substances：

Year: 2012 PMID： 22833178 DOI： 10.1007/s10545-012-9518-6

Source DB: PubMed Journal: J Inherit Metab Dis ISSN： 0141-8955 Impact factor: 4.982

26 in total

Review 1. 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

2. Clinical and biochemical effects of zileuton in patients with the Sjögren-Larsson syndrome.

Authors: M A Willemsen; M A Lutt; P M Steijlen; J R Cruysberg; M van der Graaf; M W Nijhuis-van der Sanden; J W Pasman; E Mayatepek; J J Rotteveel
Journal: Eur J Pediatr Date: 2001-12 Impact factor: 3.183

3. Unsuccessful dietary treatment of Sjögren-Larsson syndrome.

Authors: P D Maaswinkel-Mooij; O F Brouwer; W B Rizzo
Journal: J Pediatr Date: 1994-05 Impact factor: 4.406

4. Identification of fatty aldehyde dehydrogenase in the breakdown of phytol to phytanic acid.

Authors: Daan M van den Brink; Joram N I van Miert; Georges Dacremont; Jean-François Rontani; Gerbert A Jansen; Ronald J A Wanders
Journal: Mol Genet Metab Date: 2004-05 Impact factor: 4.797

5. MR imaging and proton MR spectroscopic studies in Sjögren-Larsson syndrome: characterization of the leukoencephalopathy.

Authors: Michèl A A P Willemsen; Marinette Van Der Graaf; Marjo S Van Der Knaap; Arend Heerschap; Peter H M F Van Domburg; Fons J M Gabreëls; Jan J Rotteveel
Journal: AJNR Am J Neuroradiol Date: 2004-04 Impact factor: 3.825

6. 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

7. Enzymatic diagnosis of Sjögren-Larsson syndrome using electrospray ionization mass spectrometry.

Authors: Robert-Jan Sanders; Rob Ofman; Conny Dekker; Stephan Kemp; Ronald J A Wanders
Journal: J Chromatogr B Analyt Technol Biomed Life Sci Date: 2008-12-25 Impact factor: 3.205

8. Restoration of fatty aldehyde dehydrogenase deficiency in Sjögren-Larsson syndrome.

Authors: S Haug; M Braun-Falco
Journal: Gene Ther Date: 2006-03-09 Impact factor: 5.250

9. 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. Monitoring of fatty aldehyde dehydrogenase by formation of pyrenedecanoic acid from pyrenedecanal.

Authors: Markus A Keller; Katrin Watschinger; Georg Golderer; Manuel Maglione; Bettina Sarg; Herbert H Lindner; Gabriele Werner-Felmayer; Alessandro Terrinoni; Ronald J A Wanders; Ernst R Werner
Journal: J Lipid Res Date: 2009-11-05 Impact factor: 5.922

13 in total

Sjögren-Larsson syndrome in clinical practice.

Review 1. Sjögren-Larsson syndrome: molecular genetics and biochemical pathogenesis of fatty aldehyde dehydrogenase deficiency.

2. Clinical and biochemical effects of zileuton in patients with the Sjögren-Larsson syndrome.

3. Unsuccessful dietary treatment of Sjögren-Larsson syndrome.

4. Identification of fatty aldehyde dehydrogenase in the breakdown of phytol to phytanic acid.

5. MR imaging and proton MR spectroscopic studies in Sjögren-Larsson syndrome: characterization of the leukoencephalopathy.

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

7. Enzymatic diagnosis of Sjögren-Larsson syndrome using electrospray ionization mass spectrometry.

8. Restoration of fatty aldehyde dehydrogenase deficiency in Sjögren-Larsson syndrome.

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

10. Monitoring of fatty aldehyde dehydrogenase by formation of pyrenedecanoic acid from pyrenedecanal.

1. Clinico-radiological and genetic features of a common neuro-ichthyotic syndrome.

2. Segmentation of Retinal Layers in Sjögren-Larsson Syndrome.

Review 3. Plasmalogens and fatty alcohols in rhizomelic chondrodysplasia punctata and Sjögren-Larsson syndrome.

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

5. Sjögren-Larsson syndrome: a rare disease of the skin and central nervous system.

6. Genetics and prospective therapeutic targets for Sjögren-Larsson Syndrome.

7. 1-O-Alkylglycerol accumulation reveals abnormal ether glycerolipid metabolism in Sjögren-Larsson syndrome.

8. Sjögren-Larsson syndrome: Anesthetic considerations and practical recommendations.

9. Atypical Presentation of Sjögren-Larsson Syndrome.

10. Novel progressive acrodysostosis-like skeletal dysplasia, cerebellar atrophy, and ichthyosis.