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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

Patient: Female, 26-year-old Final Diagnosis: Juvenile hemochromatosis type 2A Symptoms: Abdominal pain • adynamia • amenorrhea • arthralgia • dark skin • diabetic ketoacidosis • dyspnea • edema of lower limbs • hair loss Medication:— Clinical Procedure: Genetic analysis • hepatic biopsy • iron chel...

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Detalles Bibliográficos
Autores principales: de Sousa Azulay, Rossana Santiago, Magalhães, Marcelo, Tavares, Maria da Gloria, Dualibe, Roberta, Barbosa, Lívia, Gaspar, Silvia Sá, Faria, André M., Nascimento, Gilvan Cortês, Damianse, Sabrina Da Silva Pereira, de Carvalho Rocha, Viviane Chaves, Gomes, Marília B., Faria, Manuel dos Santos
Formato: Online Artículo Texto
Lenguaje:English
Publicado: International Scientific Literature, Inc. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7200091/
https://www.ncbi.nlm.nih.gov/pubmed/32327622
http://dx.doi.org/10.12659/AJCR.923108

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