Results 101 to 110 of about 158,399 (177)

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

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  

A YARS2 mutation is a novel cause of mitochondrial myopathy lactic acidosis and sideroblastic anemia (MLASA) syndrome

, 2011
A YARS2 mutation is a novel cause of mitochondrial myopathy lactic acidosis and sideroblastic anemia (MLASA ...
Peter Hickey (3484085), Richard Giegé (28490), Alison Compton (13492513), Mike Ryan (19213375), David Thorburn (13492525), Matthew McKenzie (13084017), John Christodoulou⁎ (19213378), Joëlle Rudinger-Thirion (807041), Lisa Riley (11328381), Melanie Bahlo (54258), Sandra Cooper (3486899)   +10 more
core  

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  

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

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

A Case Report on Pearson Syndrome With Emphasis on Genetic Screening in Patients Presenting With Sideroblastic Anemia and Lactic Acidosis. [PDF]

Cureus, 2023
Shoeleh C, Donato UM, Galligan A, Vitko J.   +3 more
europepmc   +1 more source

Biallelic mutations in the SARS2 gene presenting as congenital sideroblastic anemia. [PDF]

Haematologica, 2021
Colin E, Courtois G, Brouzes C, Pulman J, Rabant M, Rötig A, Taffin H, Lion-Lambert M, Fabrega S, Da Costa L, De Montalembert M, Salomon R, Hermine O, Couronné L.   +13 more
europepmc   +1 more source