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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...
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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
International Scientific Literature, Inc.
2020
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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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