Results 101 to 110 of about 5,388 (203)

Thiamine– Responsive Megaloblastic Anemia Syndrome

Majallah-i Dānishgāh-i ’Ulūm-i Pizishkī-i Shahīd Ṣadūqī Yazd, 2009
Thiamine Responsive megaloblastic anemia in DIDMOA (Wolfram) syndrome has an autosomal- recessive mode of inheritance . Megaloblastic anemia and sideroblastic anemia is accompanied by diabetes insipidus (DI), diabetes mellitus (DM) ,optic atrophy (OA ...
F Motavaselian, F Nourani, Kh Dehghani, M Kheirandish, AH Jafari, A Hashemi   +5 more
doaj  

Correlation of MLASA2 Clinical Phenotype and Survival with Mt-TyrRS Protein Damage: Linking Systematic Review, Meta-Analysis and 3D Hotspot Mapping

Current Issues in Molecular Biology
Myopathy, Lactic Acidosis, and Sideroblastic Anemia type 2 (MLASA2) is a rare mitochondrial disorder caused by pathogenic variants (PVs) in the YARS2 gene (which encodes the Mt-TyrRS protein.
José Rafael Villafan-Bernal, Angélica Martínez-Hernández, Humberto García-Ortiz, Cecilia Contreras-Cubas, Israel Guerrero-Contreras, José Luis Frías-Cabrera, Federico Centeno-Cruz, Monserrat Ivonne Morales Rivera, Jhonatan Rosas Hernández, Alessandra Carnevale, Francisco Barajas-Olmos, Lorena Orozco   +11 more
doaj   +1 more source

Publication Only

HemaSphere, Volume 9, Issue S1, June 2025.
wiley   +1 more source

Diagnóstico diferencial da deficiência de ferro Differential diagnosis of iron deficiency

Revista Brasileira de Hematologia e Hemoterapia, 2010
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  

Causes and Pathophysiology of Acquired Sideroblastic Anemia. [PDF]

Genes (Basel), 2022
Rodriguez-Sevilla JJ, Calvo X, Arenillas L.   +2 more
europepmc   +1 more source

MLASA-1: A Rare Cause of Myopathy with Sideroblastic Anemia. [PDF]

Ann Indian Acad Neurol, 2022
Sait B, Chidambaram AC, Dinesh Babu RM, Vidhyasagar K, Xavier JR, Sagayaraj B.   +5 more
europepmc   +1 more source

Transient Sideroblastic Anemia Post-COVID-19 Infection. [PDF]

Cureus, 2022
Mukhi N, Soto LR, Vuppala A.
europepmc   +1 more source

IARS2-related disease manifesting as sideroblastic anemia and hypoparathyroidism: A case report. [PDF]

Front Pediatr, 2022
Gong Y, Lan XP, Guo S.
europepmc   +1 more source

The role of appoptosin in regulating oxidative stress and mitochondrial morphology [PDF]

, 2015
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  

Thalidomide as an Effective Treatment in Sideroblastic Anemia, Immunodeficiency, Periodic Fevers, and Developmental Delay (SIFD). [PDF]

J Clin Immunol, 2023
Li Y, Deng M, Han T, Mo W, Mao H.
europepmc   +1 more source