Visualitzant Ciències de la Salut per matèria "Aceruloplasminèmia"
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Genetic and clinical heterogeneity in thirteen new cases with aceruloplasminemia. Atypical anemia as a clue for an early diagnosis
(International Journal of Molecular Sciences, 2020)Aceruloplasminemia is a rare autosomal recessive genetic disease characterized by mild microcytic anemia, diabetes, retinopathy, liver disease, and progressive neurological symptoms due to iron accumulation ...