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Sjgren-Larsson综合征研究进展 被引量:1

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作者 陈昕 赵国华
出处 《中国当代儿科杂志》 CAS CSCD 2002年第6期564-566,共3页 Chinese Journal of Contemporary Pediatrics
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参考文献19

  • 1Willemsen MA, de Jong JG, vanDomburg PH, et al. Sjgren-Larsson sydrome [J]. J Pediatr, 2000, 136(2): 261.
  • 2van Domburg PH, Willemsen MA, Rotteveel JJ, et al. Sjgren-Larsson sydrome:clinical and MRI/MRS findings in FALDH-dificient patients [J]. Neurology, 1999, 52(7):1345-1352.
  • 3Sood M, Trehan A, Dinakaran J, et al. Sjgren-Larsson syndrome [J]. Indian JPediatr, 2002, 69(2): 193-194.
  • 4Yamaguchi K, Handa T. Sjgren-Larsson syndrome: postmortem brain abnormalities[J]. Pediatr Neurol, 1998, 18(4): 338-341.
  • 5Pigg M, Jagell S, Sillen A, et al. The Sjgren-Larsson syndrome gene is close toD17S805 as determined by linkage analysis and allelic association [J]. Nature Genet, 1994,8(4): 361-364.
  • 6de Laurenzi V, Rogers GR, Hamrock DJ, et al. Sjgren-Larsson syndrome is causedby mutations in the fatty aldehyde dehydrogenase gene [J]. Nature Genet, 1996, 12(1):52-57.
  • 7Rizzo WB, Lin Z, Carney G. Fatty aldehyde dehydrogenase:genomic structure,expression and mutation analysis in Sjgren-Larsson syndrome[J]. Chem Biol Interact,2001, 130-132(1-3): 297-307.
  • 8Lin Z, Carney G, Rizzo WB. Genomic organization, expression, and alternate splicingof the mouse fatty aldehyde dehydrogenase gene [J]. Mol Genet Metab, 2000, 71(3): 496-505.
  • 9Rizzo WB, Carney G, Lin Z. The molecular basis of Sjgren-Larsson sydrome:mutation analysis of the fatty aldehyde dehydrogenase gene [J]. Am J Hum Genet, 1999,65(6): 1547-1560.
  • 10Rizzo WB. Sjgren-Larsson sydrome: explaining the skin-brain connection [J].Neurology, 1999, 52(7): 1307-1308.

同被引文献14

  • 1Sjogren T, Larsson T. Oligophrenia in combination with congenitalichthyosis and spastic disorders; a clinical and genetic study.Acta Psychiatr Neurol Scand Suppl, 1957,113: 1-112.
  • 2Jagell S, Liden S. Ichthyosis in the Sj 5gren - Larsson syndrome.Clin Genet, 1982,21(4): 243-252.
  • 3Willemsen MA, Ijlst L, Steijlen PM, et al. Clinical, biochemicaland molecular genetic characteristics of 19 patients with theSjogren-Larsson syndrome. Brain, 2001, 124(Pt 7): 1426-1437.
  • 4Hofer PA, Jagell S. Sj5gren - Larsson syndrome : a dermato -histopathological study. J Cutan Pathol, 1982, 9(6): 360-376.
  • 5Lossos A, Khoury M,Rizzo WB, et al. Phenotypic variabilityamong adult siblings with Sjbgren-Larsson syndrome. Arch Neurol,2006,63(2): 278-280.
  • 6Pigg M, Jagell S, Sill6n A, et al. The Sjbgren-Larsson syndromegene is close to D17S805 as determined by linkage analysis andallelic association. Nat Genet, 1994, 8(4): 361-364.
  • 7De Laurenzi V,Rogers GR,Hamrock DJ, et al. Sjogren-Larssonsyndrome is caused by mutations in the fatty aldehyde dehydro-genase gene. Nat Genet, 1996, 12(1): 52-57.
  • 8Losito L, Gennaro L,De Rinaldis M, et al. SjSgren-Larsson syn-drome: phenotypic variability in two brothers with a neurocuta-neous disorder. Acta Neurol Belg, 2012,112(2): 205-208.
  • 9Rizzo WB, S,Aulis D, Jennings MA, et al. Ichthyosis in Sjogren-Larsson syndrome reflects defective barrier function due to ab-normal lamellar body structure and secretion. Arch DermatolRes, 2010,302(6):443-451.
  • 10Willemsen MA, de Jong JG, van Domburg PH, et al. Defectiveinactivation of leukotriene B4 in patients with Sjogren-Larssonsyndrome. J Pediatr, 2000, 136(2): 258-260.

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