Browsing Articles by Subject "Malaltia neurodegenerativa"
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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 ... -
L-ferritin: one gene, five diseases; from hereditary hyperferritinemia to hypoferritinemia - report of new cases
(Pharmaceuticals, 2019)Ferritin is a multimeric protein composed of light (L-ferritin) and heavy (H-ferritin) subunits that binds and stores iron inside the cell. A variety of mutations have been reported in the L-ferritin ...