Early neurological impairment and severe anemia in a newborn with Pearson syndrome [PDF]
Background: Pearson marrow-pancreas syndrome (PS) is usually a fatal mitochondrial disease, mostly diagnosed during infancy or postmortem. PS is caused by the deletions or duplications of mitochondrial DNA (mtDNA).
Ballhausen, Diana +7 more
core
Diagnóstico diferencial da deficiência de ferro Differential diagnosis of iron deficiency
A deficiência de ferro é considerada a patologia hematológica mais prevalente no homem. Assim, é fundamental a adequada identificação de suas causas, bem como a diferenciação com outras patologias distintas para adequada abordagem da deficiência de ferro.
Perla Vicari, Maria Stella Figueiredo
doaj
Inter-laboratory survey of erythrocyte free protoporphyrin quantification - announcement of a pilot study [PDF]
Mueller, Wilhelm +2 more
core +1 more source
The role of appoptosin in regulating oxidative stress and mitochondrial morphology [PDF]
氧化压力是指细胞或体内氧自由基的含量超出抗氧化物及抗氧化酶类清除能力时对细胞或机体造成的氧化胁迫。氧化压力参与了包括炎症、衰老、心血管疾病、癌症、糖尿病、艾滋病、神经退行性疾病等多种疾病的发病过程。氧化压力通过多个下游信号通路对细胞造成胁迫,如JNK、Foxo等,但其中的具体参与蛋白仍有待于深入阐明。Appoptosin也被称为SLC25A38,是一种定位于线粒体内膜的转运蛋白,负责转入甘氨酸并转出D-氨基乙酰丙酸,进而调节血红素(heme)的合成 ...
张翠林
core
Sideroblastic anemia: An underdiagnosed rare disease
Swetha Palla +5 more
doaj +1 more source
Treatment of iron deficiency anemia: practical considerations [PDF]
Rampton, D, Taylor, S
core +1 more source
SIDEROBLASTIC ANAEMIA–A HITHERTO UNRCCGNIZED CAUSE OF UNEXPLAINED ANAEMIA
Objective: To assess the clinicopathological heterogeneity of sideroblastic anemia disorders characterized by the presence of ring sideroblasts in the bone marrow. Study Design: Descriptive study. Place and Duration of Study: Study was conducted
Kamran Nazir Ahmad +5 more
doaj
Pyrazinamide‐induced sideroblastic anemia [PDF]
Giuseppe, Colucci +2 more
openaire +2 more sources
Prognostic Factors for Sideroblastic Anemia with B-cell Immunodeficiency, Periodic Fevers, and Developmental Delay Due to TRNT1 Gene Mutations: A Case Report and Systematic Review. [PDF]
Su TH +4 more
europepmc +1 more source

