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Volumn 65, Issue 6, 2013, Pages 669-672

Brand new SPINK1 and CFTR mutations in a child with acute recurrent pancreatitis: A case report

Author keywords

Child; Cystic fibrosis; Pancreatitis

Indexed keywords

ANTIBIOTIC AGENT; HISTAMINE H2 RECEPTOR ANTAGONIST; PANCREATIC ELASTASE; PROTEINASE INHIBITOR;

EID: 84891392538     PISSN: 00264946     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (11)

References (11)
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    • Role of genetic disorders in acute recurrent pancreatitis
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    • Keim V. Role of genetic disorders in acute recurrent pancreatitis. World J Gastroenterol 2008;14:1011-5. (Pubitemid 351324998)
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  • 2
    • 77951920963 scopus 로고    scopus 로고
    • Genetic aspects of pancreatitis
    • Whitcomb DC. Genetic aspects of pancreatitis. Annu Rev Med 2010;61:413-24.
    • (2010) Annu Rev Med , vol.61 , pp. 413-424
    • Whitcomb, D.C.1
  • 4
    • 73849086221 scopus 로고    scopus 로고
    • Connections between genetics and clinical data: Role of MCP-1, CFTR, and SPINK-1 in the setting of acute, acute recurrent, and chronic pancreatitis
    • Cavestro GM, Zuppardo RA, Bertolini S, Sereni G, Frulloni L, Okolicsanyi S et al. Connections between genetics and clinical data: Role of MCP-1, CFTR, and SPINK-1 in the setting of acute, acute recurrent, and chronic pancreatitis. Am J Gastroenterol 2010;105:199-206.
    • (2010) Am J Gastroenterol , vol.105 , pp. 199-206
    • Cavestro, G.M.1    Zuppardo, R.A.2    Bertolini, S.3    Sereni, G.4    Frulloni, L.5    Okolicsanyi, S.6
  • 5
    • 76349094276 scopus 로고    scopus 로고
    • SPINK1 N34S is strongly associated with recurrent acute pancreatitis but is not a risk factor for the first or sentinel acute pancreatitis event
    • Aoun E, Muddana V, Papachristou GI, Whitcomb DC. SPINK1 N34S is strongly associated with recurrent acute pancreatitis but is not a risk factor for the first or sentinel acute pancreatitis event. Am J Gastroenterol 2010;105:446-51.
    • (2010) Am J Gastroenterol , vol.105 , pp. 446-451
    • Aoun, E.1    Muddana, V.2    Papachristou, G.I.3    Whitcomb, D.C.4
  • 6
    • 0034039578 scopus 로고    scopus 로고
    • Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis
    • DOI 10.1038/76088
    • Witt H, Luck W, Hennies HC, Classen M, Kage A, Lass U et al. Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis. Nat Genet 2000;25:213-6. (Pubitemid 30394996)
    • (2000) Nature Genetics , vol.25 , Issue.2 , pp. 213-216
    • Witt, H.1    Luck, W.2    Hennies, H.C.3    Classen, M.4    Kage, A.5    Lass, U.6    Landt, O.7    Becker, M.8
  • 7
    • 25444432550 scopus 로고    scopus 로고
    • Complete cystic fibrosis transmembrane conductance regulator gene sequencing in patients with idiopathic chronic pancreatitis and controls
    • DOI 10.1136/gut.2005.064808
    • Weiss FU, Simon P, Bogdanova N, Mayerle J, Dworniczak B, Horst J et al. Complete cystic fibrosis transmembrane conductance regulator gene sequencing in patients with idiopathic chronic pancreatitis and controls. Gut 2005;54:1456-60. (Pubitemid 41375203)
    • (2005) Gut , vol.54 , Issue.10 , pp. 1456-1460
    • Weiss, F.U.1    Simon, P.2    Bogdanova, N.3    Mayerle, J.4    Dworniczak, B.5    Horst, J.6    Lerch, M.M.7
  • 8
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    • Pancreatitis among patients with cystic fibrosis: Correlation with pancreatic status and genotype
    • De Boeck K, Weren M, Proesmans M, Kerem E. Pancreatitis among patients with cystic fibrosis: correlation with pancreatic status and genotype. Pediatrics 2005;115:e463-469.
    • (2005) Pediatrics , vol.115
    • De Boeck, K.1    Weren, M.2    Proesmans, M.3    Kerem, E.4
  • 9
    • 57649232744 scopus 로고    scopus 로고
    • Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders - Updated European recommendations
    • Dequeker E, Stuhrmann M, Morris MA, Casals T, Castellani C, Claustres M et al. Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders - updated European recommendations. Hum Genet 2009;17:51-65.
    • (2009) Hum Genet , vol.17 , pp. 51-65
    • Dequeker, E.1    Stuhrmann, M.2    Morris, M.A.3    Casals, T.4    Castellani, C.5    Claustres, M.6
  • 11
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    • Cystic fibrosis gene mutations and pancreatitis risk: Relation to epithelial ion transport and trypsin inhibitor gene mutations
    • Noone PG, Zhou Z, Silverman LM, Jowell PS, Knowles MR, Cohn JA. Cystic fibrosis gene mutations and pancreatitis risk: relation to epithelial ion transport and trypsin inhibitor gene mutations. Gastroenterology 2001;12:1310-9. (Pubitemid 33140448)
    • (2001) Gastroenterology , vol.121 , Issue.6 , pp. 1310-1319
    • Noone, P.G.1    Zhou, Z.2    Silverman, L.M.3    Jowell, P.S.4    Knowles, M.R.5    Cohn, J.A.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.