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Novel Mutation in the Hemojuvelin Gene (HJV) in a Patient with Juvenile Hemochromatosis Presenting with Insulin-dependent Diabetes Mellitus, Secondary Hypothyroidism and Hypogonadism.
Santiago de Sousa Azulay, Rossana; Magalhães, Marcelo; Tavares, Maria da Gloria; Dualibe, Roberta; Barbosa, Lívia; Sá Gaspar, Silvia; Faria, André M; Nascimento, Gilvan Cortês; Damianse, Sabrina Da Silva Pereira; Rocha, Viviane Chaves de Carvalho; Gomes, Marília B; Dos Santos Faria, Manuel.
Afiliação
  • Santiago de Sousa Azulay R; Endocrinology Unit, University Hospital of the Federal University of Maranhão (HUUFMA), São Luís, Brazil.
  • Magalhães M; Research Group in Clinical and Molecular Endocrinology and Metabology (ENDOCLIM), São Luís, Brazil.
  • Tavares MDG; Endocrinology Unit, University Hospital of the Federal University of Maranhão (HUUFMA), São Luís, Brazil.
  • Dualibe R; Research Group in Clinical and Molecular Endocrinology and Metabology (ENDOCLIM), São Luís, Brazil.
  • Barbosa L; Clinical Research Center of the University Hospital of the Federal University of Maranhão (CEPEC - HUUFMA), São Luís, Brazil.
  • Sá Gaspar S; Endocrinology Unit, University Hospital of the Federal University of Maranhão (HUUFMA), São Luís, Brazil.
  • Faria AM; Research Group in Clinical and Molecular Endocrinology and Metabology (ENDOCLIM), São Luís, Brazil.
  • Nascimento GC; Endocrinology Unit, University Hospital of the Federal University of Maranhão (HUUFMA), São Luís, Brazil.
  • Damianse SDSP; Research Group in Clinical and Molecular Endocrinology and Metabology (ENDOCLIM), São Luís, Brazil.
  • Rocha VCC; Research Group in Clinical and Molecular Endocrinology and Metabology (ENDOCLIM), São Luís, Brazil.
  • Gomes MB; Research Group in Clinical and Molecular Endocrinology and Metabology (ENDOCLIM), São Luís, Brazil.
  • Dos Santos Faria M; Neuroendocrine Unit, Functional Neurosurgery Division, Psychiatry Institute, Hospital das Clínicas, University of São Paulo Medical School, São Paulo, Brazil.
Am J Case Rep ; 21: e923108, 2020 Apr 24.
Article em En | MEDLINE | ID: mdl-32327622

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas Ligadas por GPI / Proteína da Hemocromatose / Hemocromatose Tipo de estudo: Diagnostic_studies / Etiology_studies Limite: Adult / Female / Humans Idioma: En Revista: Am J Case Rep Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Brasil

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas Ligadas por GPI / Proteína da Hemocromatose / Hemocromatose Tipo de estudo: Diagnostic_studies / Etiology_studies Limite: Adult / Female / Humans Idioma: En Revista: Am J Case Rep Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Brasil