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MeSH Review

Sjogren-Larsson Syndrome

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Disease relevance of Sjogren-Larsson Syndrome


High impact information on Sjogren-Larsson Syndrome


Chemical compound and disease context of Sjogren-Larsson Syndrome


Anatomical context of Sjogren-Larsson Syndrome


Gene context of Sjogren-Larsson Syndrome


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  2. Genomic organization and expression of the human fatty aldehyde dehydrogenase gene (FALDH). Rogers, G.R., Markova, N.G., De Laurenzi, V., Rizzo, W.B., Compton, J.G. Genomics (1997) [Pubmed]
  3. The expression of the 27-kd heat shock protein in keratinization disorders: an immunohistological study. Jonak, C., Metze, D., Traupe, H., Happle, R., König, A., Trautinger, F. Hum. Pathol. (2005) [Pubmed]
  4. Metabolic pigmentary retinopathies: diagnosis and therapeutic attempts. Poll-The, B.T., Billette de Villemeur, T., Abitbol, M., Dufier, J.L., Saudubray, J.M. Eur. J. Pediatr. (1992) [Pubmed]
  5. Etretinate therapy in children with severe keratinization defects. Traupe, H., Happle, R. Eur. J. Pediatr. (1985) [Pubmed]
  6. Sjögren-Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene. De Laurenzi, V., Rogers, G.R., Hamrock, D.J., Marekov, L.N., Steinert, P.M., Compton, J.G., Markova, N., Rizzo, W.B. Nat. Genet. (1996) [Pubmed]
  7. Proteomic analysis of the yeast mitochondrial outer membrane reveals accumulation of a subclass of preproteins. Zahedi, R.P., Sickmann, A., Boehm, A.M., Winkler, C., Zufall, N., Schönfisch, B., Guiard, B., Pfanner, N., Meisinger, C. Mol. Biol. Cell (2006) [Pubmed]
  8. Dystonia secondary to Sjögren-Larsson syndrome. Cubo, E., Goetz, C.G. Neurology (2000) [Pubmed]
  9. Assay for Sjögren-Larsson syndrome based on a deficiency of phytol degradation. van den Brink, D.M., van Miert, J.M., Wanders, R.J. Clin. Chem. (2005) [Pubmed]
  10. Defective inactivation of leukotriene B4 in patients with Sjögren-Larsson syndrome. Willemsen, M.A., de Jong, J.G., van Domburg, P.H., Rotteveel, J.J., Wanders, R.J., Mayatepek, E. J. Pediatr. (2000) [Pubmed]
  11. Sjögren-Larsson syndrome: technique and timing of prenatal diagnosis. Tabsh, K., Rizzo, W.B., Holbrook, K., Theroux, N. Obstetrics and gynecology. (1993) [Pubmed]
  12. Inherited disorders of fatty alcohol metabolism. Rizzo, W.B. Mol. Genet. Metab. (1998) [Pubmed]
  13. Lipofuscin and melanin content of the retinal pigment epithelium in a case of Sjögren-Larsson syndrome. Nilsson, S.E., Jagell, S. The British journal of ophthalmology. (1987) [Pubmed]
  14. Topical treatment of Sjögren-Larsson syndrome with calcipotriol. Lucker, G.P., van de Kerkhof, P.C., Cruysberg, J.R., der Kinderen, D.J., Steijlen, P.M. Dermatology (Basel) (1995) [Pubmed]
  15. Inherited ichthyoses: a review of the histology of the skin. Scheimberg, I., Harper, J.I., Malone, M., Lake, B.D. Pediatric pathology & laboratory medicine : journal of the Society for Pediatric Pathology, affiliated with the International Paediatric Pathology Association. (1996) [Pubmed]
  16. Involvement of microsomal fatty aldehyde dehydrogenase in the alpha-oxidation of phytanic acid. Verhoeven, N.M., Jakobs, C., Carney, G., Somers, M.P., Wanders, R.J., Rizzo, W.B. FEBS Lett. (1998) [Pubmed]
  17. 5-Lipoxygenase inhibition: a new treatment strategy for Sjögren-Larsson syndrome. Willemsen, M.A., Rotteveel, J.J., Steijlen, P.M., Heerschap, A., Mayatepek, E. Neuropediatrics. (2000) [Pubmed]
  18. Juvenile macular dystrophy associated with deficient activity of fatty aldehyde dehydrogenase in Sjögren-Larsson syndrome. Willemsen, M.A., Cruysberg, J.R., Rotteveel, J.J., Aandekerk, A.L., Van Domburg, P.H., Deutman, A.F. Am. J. Ophthalmol. (2000) [Pubmed]
  19. Pre- and postnatal growth retardation, scaling skin, moderate mental retardation and quadrispasticity, hypospadias grade 2 and hydro-uretero nephrosis, postaxial polydactyly. A distinct MCA/MR syndrome? Fryns, J.P., Lagae, L., Rizzo, W.B. Clin. Dysmorphol. (1998) [Pubmed]
  20. Nutritional significance and metabolism of very long chain fatty alcohols and acids from dietary waxes. Hargrove, J.L., Greenspan, P., Hartle, D.K. Exp. Biol. Med. (Maywood) (2004) [Pubmed]
  21. An unusual central retinal dystrophy associated with ichthyosis vulgaris. Saatci, O.A., Ozbek, Z., Köse, S., Durak, I., Kavukçu, S. Ophthalmic Genet. (2000) [Pubmed]
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