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双胞胎同患Wilson病 被引量:2

Wilson disease in twin brothers
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出处 《中国当代儿科杂志》 CAS CSCD 2003年第4期382-382,共1页 Chinese Journal of Contemporary Pediatrics
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  • 1Ala A, Walker AP, Ashkan K, et al. Wilson's disease. Lancet, 2007, 369: 397-408.
  • 2Riordan SM, Williams R. The Wilson' s disease gene and phenotypie diversity. J Hepatol, 2001, 34: 165-171.
  • 3Gromadzka G, Schmidt HH, Genschel J, et al. Frameshift and nonsense mutations in the gene for ATPase7B are associated with severe impairment of copper metabolism and with an early clinical manifestation of Wilson's disease. Clin Genet, 2005, 68: 524- 532.
  • 4Gromadzka G, Schmidt HH, Genschel J, et al. p. H1069Q mutation in ATPTB and biochemical parameters of copper metabolism and clinical manifestation of Wilson's disease. Mov Disord, 2006, 21: 245-248.
  • 5Czlonkowska A, Rodo M, Gromadzka G. Late onset Wilson's disease: therapeutic implications. Mov Disord, 2008, 23: 896- 898.
  • 6Migeon BR, Dunn MA, Thomas G, et al. Studies of X inactivation and isodisomy in twins provide further evidence that the X chromosome is not involved in Rett syndrome. Am J Hum Genet, 1995, 56: 647-653.
  • 7Munar-Que's M, Pedrosa JL, Coelho T, et al. Two pairs of proven monozygotic twins discordant for familial amyloid neuropathy (FAP) TTRMet 30. J Med Genet, 1999, 36: 629- 632.
  • 8Roberts EA, Schilsky ML. Diagnosis and treatment of Wilson disease: An update. Hepatology, 2008, 47: 2089-2111.
  • 9Lam CW, Mak CM. Allele dropout in PCR-based diagnosis of Wilson disease: mechanisms and solutions. Clin Chem, 2006, 52, 517-520.
  • 10Bonne-Tamir H, Frydman M, Agger MS, et al. Wilson's disease in Israeli a genetic and epidemiological study. Ann Hum Genet, 1990, 54(Pt 2): 155-168.

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