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Clinical presentation and treatment response to diazoxide in two siblings with congenital hyperinsulinism as a result of a novel compound heterozygous ABCC8 missense mutation.
Galcheva, Sonya; Iotova, Violeta; Ellard, Sian; Flanagan, Sarah E; Halvadzhiyan, Irina; Petrova, Chayka; Hussain, Khalid.
Afiliação
  • Galcheva S; Department of Paediatrics, Medical University of Varna, 55 Marin Drinov street, Varna 9002.
  • Iotova V; Department of Paediatrics, Medical University of Varna, Varna.
  • Ellard S; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter.
  • Flanagan SE; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter.
  • Halvadzhiyan I; Department of Paediatrics, Medical University, Pleven.
  • Petrova C; Department of Paediatrics, Medical University, Pleven.
  • Hussain K; Genetics and Epigenetics in Health and Disease Genetics and Genomic Medicine Programme, UCL Institute Child Health, London.
J Pediatr Endocrinol Metab ; 30(4): 471-474, 2017 Apr 01.
Article em En | MEDLINE | ID: mdl-28328534
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Mutação de Sentido Incorreto / Hiperinsulinismo Congênito / Diazóxido / Receptores de Sulfonilureias / Anti-Hipertensivos Tipo de estudo: Prognostic_studies Limite: Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2017 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Mutação de Sentido Incorreto / Hiperinsulinismo Congênito / Diazóxido / Receptores de Sulfonilureias / Anti-Hipertensivos Tipo de estudo: Prognostic_studies Limite: Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2017 Tipo de documento: Article