메뉴 건너뛰기




Volumn 48, Issue 1, 2009, Pages 72-77

Wilson disease in children: Analysis of 57 cases

Author keywords

ATP7B mutations; Diagnosis; Liver; Wilson disease

Indexed keywords

CERULOPLASMIN; COPPER; PENICILLAMINE; TRIENTINE; ZINC; ADENOSINE TRIPHOSPHATASE; CATION TRANSPORT PROTEIN; CHELATING AGENT; DIAGNOSTIC AGENT; WILSON DISEASE PROTEIN;

EID: 63649133451     PISSN: 02772116     EISSN: None     Source Type: Journal    
DOI: 10.1097/MPG.0b013e31817d80b8     Document Type: Article
Times cited : (70)

References (20)
  • 1
    • 0025205112 scopus 로고
    • Perspectives on Wilson's disease
    • Sternlieb I. Perspectives on Wilson's disease. Hepatology 1990;12:1234-9.
    • (1990) Hepatology , vol.12 , pp. 1234-1239
    • Sternlieb, I.1
  • 2
    • 0029928263 scopus 로고    scopus 로고
    • Wilson disease and idiopathic copper toxicosis
    • Scheinberg IH, Sternlieb I. Wilson disease and idiopathic copper toxicosis. Am J Clin Nutr 1996;63:842S-5S.
    • (1996) Am J Clin Nutr , vol.63
    • Scheinberg, I.H.1    Sternlieb, I.2
  • 3
    • 0000386450 scopus 로고
    • Disorders of copper transport
    • eds, 7th edet al. New York: McGraw-Hill;
    • Danks DM. Disorders of copper transport. In: Scriver CR, Beaudet AL, Sly WS (eds). The Metabolic and Molecular Bases of Inherited Disease. 7th edet al. New York: McGraw-Hill; 1995. pp. 221-35.
    • (1995) The Metabolic and Molecular Bases of Inherited Disease , pp. 221-235
    • Danks, D.M.1
  • 4
    • 0027452091 scopus 로고
    • The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene
    • Bull PC, Thomas GR, Rommens JM, et al. The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene. Nat Genet 1993;5:327-37.
    • (1993) Nat Genet , vol.5 , pp. 327-337
    • Bull, P.C.1    Thomas, G.R.2    Rommens, J.M.3
  • 5
    • 0027364961 scopus 로고
    • The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene
    • Tanzi RE, Petrukhin K, Chernov I, et al. The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene. Nat Genet 1993;5:344-50.
    • (1993) Nat Genet , vol.5 , pp. 344-350
    • Tanzi, R.E.1    Petrukhin, K.2    Chernov, I.3
  • 6
    • 67651161798 scopus 로고    scopus 로고
    • MIM 277900, GenBank NM-00053.1. Wilson Disease Mutations Database
    • ATP7B, MIM 277900, GenBank NM-00053.1. Wilson Disease Mutations Database. www.medgen.med.ualberta.ca/database.html.
    • ATP7B
  • 7
    • 0034502792 scopus 로고    scopus 로고
    • Delineation of the spectrum of Wilson disease mutations in the Greek population and the identification of six novel mutations
    • Loudianos G, Lovicu M, Solinas P, et al. Delineation of the spectrum of Wilson disease mutations in the Greek population and the identification of six novel mutations. Genet Test 2000;4: 399-402.
    • (2000) Genet Test , vol.4 , pp. 399-402
    • Loudianos, G.1    Lovicu, M.2    Solinas, P.3
  • 8
    • 9644308138 scopus 로고    scopus 로고
    • Genotype-phenotype correlations for a wide spectrum of mutations in the Wilson disease gene (ATP7B)
    • Panagiotakaki E, Tzetis M, Manolaki N, et al. Genotype-phenotype correlations for a wide spectrum of mutations in the Wilson disease gene (ATP7B). Am J Med Genet 2004;131:168-73.
    • (2004) Am J Med Genet , vol.131 , pp. 168-173
    • Panagiotakaki, E.1    Tzetis, M.2    Manolaki, N.3
  • 9
    • 0035139204 scopus 로고    scopus 로고
    • The Wilson's disease gene and phenotypic diversity
    • Riordan SM, Williams R. The Wilson's disease gene and phenotypic diversity. J Hepatol 2001;34:165-71.
    • (2001) J Hepatol , vol.34 , pp. 165-171
    • Riordan, S.M.1    Williams, R.2
  • 10
    • 33846024776 scopus 로고    scopus 로고
    • Clinical presentation, diagnosis and long-term outcome of Wilson disease: A cohort study
    • Merle U, Schaefer M, Ferenci P, et al. Clinical presentation, diagnosis and long-term outcome of Wilson disease: a cohort study. Gut 2007;56:115-20.
    • (2007) Gut , vol.56 , pp. 115-120
    • Merle, U.1    Schaefer, M.2    Ferenci, P.3
  • 11
    • 0037566015 scopus 로고    scopus 로고
    • A practice guideline on Wilson disease
    • Roberts EA, Schilsky ML. A practice guideline on Wilson disease. Hepatology 2003;37:1475-92.
    • (2003) Hepatology , vol.37 , pp. 1475-1492
    • Roberts, E.A.1    Schilsky, M.L.2
  • 12
    • 0142029450 scopus 로고    scopus 로고
    • Diagnosis and phenotypic classification of Wilson disease
    • Ferenci P, Caca K, Loudianos G, et al. Diagnosis and phenotypic classification of Wilson disease. Liver Int 2003;23:139-42.
    • (2003) Liver Int , vol.23 , pp. 139-142
    • Ferenci, P.1    Caca, K.2    Loudianos, G.3
  • 13
    • 20844453260 scopus 로고    scopus 로고
    • Evaluation of the scoring system for the diagnosis of Wilson's disease in children
    • Koppikar S, Dhawan A. Evaluation of the scoring system for the diagnosis of Wilson's disease in children. Liver Int 2005;25: 680-1.
    • (2005) Liver Int , vol.25 , pp. 680-681
    • Koppikar, S.1    Dhawan, A.2
  • 14
    • 13144294073 scopus 로고    scopus 로고
    • Haplotype and mutation analysis in Greek patients with Wilson disease
    • Loudianos G, Dessi V, Lovicu M, et al. Haplotype and mutation analysis in Greek patients with Wilson disease. Eur J Hum Genet 1998;6:487-91.
    • (1998) Eur J Hum Genet , vol.6 , pp. 487-491
    • Loudianos, G.1    Dessi, V.2    Lovicu, M.3
  • 15
    • 17544388130 scopus 로고    scopus 로고
    • Wilson's disease in patients presenting with liver disease: A diagnostic challenge
    • Steindl P, Ferenci P, Dienes HP, et al. Wilson's disease in patients presenting with liver disease: a diagnostic challenge. Gastroenterology 1997;113:212-8.
    • (1997) Gastroenterology , vol.113 , pp. 212-218
    • Steindl, P.1    Ferenci, P.2    Dienes, H.P.3
  • 16
    • 0034122412 scopus 로고    scopus 로고
    • Diagnosis of Wilson's disease: An experience over three decades
    • Gow PJ, Smallwood RA, Angus PW, et al. Diagnosis of Wilson's disease: an experience over three decades. Gut 2000;46: 415-9.
    • (2000) Gut , vol.46 , pp. 415-419
    • Gow, P.J.1    Smallwood, R.A.2    Angus, P.W.3
  • 17
    • 0026535178 scopus 로고
    • Value of urinary copper excretion after penicillamine challenge in the diagnosis of Wilson's disease
    • Martins da Costa C, Baldwin D, Portmann B, et al. Value of urinary copper excretion after penicillamine challenge in the diagnosis of Wilson's disease. Hepatology 1992;15:609-15.
    • (1992) Hepatology , vol.15 , pp. 609-615
    • Martins da Costa, C.1    Baldwin, D.2    Portmann, B.3
  • 18
    • 0027323878 scopus 로고
    • Urinary copper excretion after penicillamine challenge in children with prolonged hepatitis A infection
    • Gregorio GV, Mieli-Vergani G. Urinary copper excretion after penicillamine challenge in children with prolonged hepatitis A infection. Hepatology 1993;18:706-7.
    • (1993) Hepatology , vol.18 , pp. 706-707
    • Gregorio, G.V.1    Mieli-Vergani, G.2
  • 19
    • 0344689844 scopus 로고    scopus 로고
    • A high index of suspicion: The key to an early diagnosis of Wilson's disease in childhood
    • Sanchez-Albisua I, Garde T, Hierro L, et al. A high index of suspicion: the key to an early diagnosis of Wilson's disease in childhood. J Pediatr Gastroenterol Nutr 1999;28: 186-90.
    • (1999) J Pediatr Gastroenterol Nutr , vol.28 , pp. 186-190
    • Sanchez-Albisua, I.1    Garde, T.2    Hierro, L.3
  • 20
    • 30744437439 scopus 로고    scopus 로고
    • Direct diagnosis of Wilson disease by molecular genetics
    • Caprai S, Loudianos G, Massei F, et al. Direct diagnosis of Wilson disease by molecular genetics. J Pediatr 2006;148:138-40.
    • (2006) J Pediatr , vol.148 , pp. 138-140
    • Caprai, S.1    Loudianos, G.2    Massei, F.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.