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Volumn 79, Issue 5, 1998, Pages 445-447

Hyperinsulinism: Molecular aetiology of focal disease

Author keywords

Hyperinsulinism; Mutational analysis; Sulphonylurea receptor

Indexed keywords

DIAZOXIDE; DNA; GLUCAGON; OCTREOTIDE;

EID: 0031765251     PISSN: 00039888     EISSN: 14682044     Source Type: Journal    
DOI: 10.1136/adc.79.5.445     Document Type: Article
Times cited : (64)

References (8)
  • 1
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    • Familial and sporadic hyperinsulinism: Histopathologic findings and segregation analysis support a single autosomal recessive disorder
    • Thornton PS, Sumner AE, Ruchelli ED, Spielman RS, Baker, L, Stanley CA. Familial and sporadic hyperinsulinism: histopathologic findings and segregation analysis support a single autosomal recessive disorder. J Pediatr 1991;119:721-4.
    • (1991) J Pediatr , vol.119 , pp. 721-724
    • Thornton, P.S.1    Sumner, A.E.2    Ruchelli, E.D.3    Spielman, R.S.4    Baker, L.5    Stanley, C.A.6
  • 2
    • 0031942583 scopus 로고    scopus 로고
    • Familial hyperinsulinism with apparent autosomal dominant inheritance: Clinical and genetic differences from the autosomal recessive variant
    • Thornton PS, Satin-Smith MS, Herold K, et al. Familial hyperinsulinism with apparent autosomal dominant inheritance: clinical and genetic differences from the autosomal recessive variant. J Pediatr 1998;131:9-14.
    • (1998) J Pediatr , vol.131 , pp. 9-14
    • Thornton, P.S.1    Satin-Smith, M.S.2    Herold, K.3
  • 3
    • 0029021696 scopus 로고
    • Mutations in the sulphonylurea receptor gene in familial hyperinsulinaemic hypoglycaemia of infancy
    • Thomas PM, Cote CJ, Wohllk N, et al. Mutations in the sulphonylurea receptor gene in familial hyperinsulinaemic hypoglycaemia of infancy. Science 1995;268:426-9 .
    • (1995) Science , vol.268 , pp. 426-429
    • Thomas, P.M.1    Cote, C.J.2    Wohllk, N.3
  • 4
    • 15644367096 scopus 로고    scopus 로고
    • A nonsense mutation in the inward rectifier potassium channel gene, Kir6.2, is associated with familial hyperinsulinism
    • Nestorowich A, Inagaki N, Gonoi T, et al. A nonsense mutation in the inward rectifier potassium channel gene, Kir6.2, is associated with familial hyperinsulinism. Diabetes 1997; 46:1743-8.
    • (1997) Diabetes , vol.46 , pp. 1743-1748
    • Nestorowich, A.1    Inagaki, N.2    Gonoi, T.3
  • 5
    • 0030880778 scopus 로고    scopus 로고
    • Somatic deletion of the imprinted 11p15 region in sporadic persistent hyperinsulinaemic hypoglycaemia of infancy is specific of focal adenomatous hyperplasia and endorses partial pancreatectomy
    • de Lonlay P, Fournet JC, Rahier J, et al. Somatic deletion of the imprinted 11p15 region in sporadic persistent hyperinsulinaemic hypoglycaemia of infancy is specific of focal adenomatous hyperplasia and endorses partial pancreatectomy. J Clin Invest 1997;100:802-7.
    • (1997) J Clin Invest , vol.100 , pp. 802-807
    • De Lonlay, P.1    Fournet, J.C.2    Rahier, J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.