Results 21 to 30 of about 174,911 (201)

Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4. [PDF]

, 2013
We used exome sequencing to identify mutations in sideroflexin 4 (SFXN4) in two children with mitochondrial disease (the more severe case also presented with macrocytic anemia).
Hildick-Smith, Gordon J, Branco, Diana S, Mootha, V.K., Lieber, D.S., Freedman, Matthew L, Yien, Yvette Y, Huston, Nicholas C, Thon, J.N., Merkenschlager, Andreas, Branco, D.S., Thon, Jonathan N, Mootha, Vamsi K, Hildick-Smith, G.J., Haack, T.B., Cooney, J.D., Strom, T.M., Prokisch, H., Cooney, Jeffrey D, Kremer, L.S., Calvo, S.E., Calvo, Sarah E, Prokisch, Holger, Paw, B.H., DiMauro, Salvatore, Koehler, C.M., Miyata, Non, Huston, N.C., Freedman, M.L., Lieber, Daniel S, Akman, H.O., Beblo, S., Italiano, Joseph E, Beblo, Skadi, Meitinger, Thomas, DiMauro, S., Shah, D.I., Garone, C., Shah, Dhvanit I, Freisinger, P., Akman, H Orhan, Strom, Tim M, Donati, M.A., Meitinger, T., Freisinger, Peter, Yien, Y.Y., Kremer, Laura S, Garone, Caterina, Koehler, Carla M, Miyata, N., Italiano, J.E., Haack, Tobias B, Merkenschlager, A., Paw, Barry H, Donati, M Alice, Donati M. A., Calvo S.E., Lieber D.S., Donati M.A., Yien Y. Y., Thon J.N., Yien Y.Y., Thon J. N., Prokisch H., Akman H. O., Hildick-Smith G. J., Haack T.B., Miyata N., Italiano Jr. J. E., Merkenschlager A., Paw B. H., Shah D. I., Hildick-Smith, Gordon J;Cooney, Jeffrey D;Garone, Caterina;Kremer, Laura S;Haack, Tobias B;Thon, Jonathan N;Miyata, Non;Lieber, Daniel S;Calvo, Sarah E;Akman, H Orhan;Yien, Yvette Y;Huston, Nicholas C;Branco, Diana S;Shah, Dhvanit I;Freedman, Matthew L;Koehler, Carla M;Italiano, Joseph E;Merkenschlager, Andreas;Beblo, Skadi;Strom, Tim M;Meitinger, Thomas;Freisinger, Peter;Donati, M Alice;Prokisch, Holger;Mootha, Vamsi K;DiMauro, Salvatore;Paw, Barry H, Huston N.C., Shah D.I., Meitinger T., Calvo S. E., Koehler C. M., Akman H.O., Garone C., Freedman M. L., Freedman M.L., Hildick-Smith G.J., Mootha V. K., Huston N. C., Freisinger P., DiMauro S., Branco D. S., Branco D.S., Cooney J. D., Strom T. M., Kremer L.S., Beblo S., Kremer L. S., Italiano Jr. J.E., Haack T. B., Mootha V.K., Koehler C.M., Paw B.H., Strom T.M., Lieber D. S., Cooney J.D.   +100 more
core   +3 more sources

Thyroid Stimulating Hormone in Patients with Macrocytic Anemia [PDF]

, 2022
Background Aims: The study aimed to examine the frequency of hypothyroidism among patients with macrocytic anemia and to compare this with the frequency of megaloblastic anemia.Materials and Methods: Routinely transferred specimens for a complete blood ...
Albomhedee, Mohammad, Aladily, Tariq, Hakooz, Nancy   +2 more
core   +1 more source

Frequency of Vitamin B12 and Red Cell Folate Deficiency in Macrocytic Anaemia [PDF]

, 2021
Background: Macrocytosis refers to a condition in which red blood cells are larger than normal, with or without anemia. Macrocytic anemia occur due to variety of illnesses and requires further clinical and laboratory assessment.
Tanweer Ahmed, Aisha Javed, Shaista Ahmed, A. Sabeen Rahman, Afshan Siddiqui, Laeeq Ahmed, Jawed Kamal   +6 more
core   +1 more source

Etiology and Pathogenesis of Macrocytic Anemia [PDF]

, 2023
Anemia is the most common conditions detected by primary care doctors in Indonesia and worldwide. In 2010, the global prevalence of anemia was 32.9%; that is, more than 2.2 billion people have anemia in the world.
Gede Andhika, I Komang
core  

Neonatal Diamond-Blackfan anemia with persistent neutropenia caused by an <i>RPS15A</i> variant. [PDF]

Pediatr Investig
Pediatric Investigation, Volume 10, Issue 5, Page 470-472, October 2026.
Zheng H, Wang K, Wang J, Fang J, Zhou D, Qiu K.   +5 more
europepmc   +2 more sources

Type of Anemia, Chronic Non-cardiovascular Illnesses, and Outcomes of Patients with ST-segment Elevation Myocardial Infarction

Rambam Maimonides Medical Journal, 2020
Objectives To assess the impact of different types of anemia and of concomitant non-cardiovascular chronic illnesses on outcomes of patients with ST-segment elevation myocardial infarction (STEMI) and baseline anemia admitted to the Intensive Cardiac ...
Tomer Menzely, Robert Zukermann, Faheem Shehadeh, Rabia Shekh Muhammad, Doron Aronson, Michael Kapeliovich, Arthur Kerner, Sergey Yalonetsky, Lior Gepstein, Eugenia Nikolsky   +9 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   +1 more source

Magnitude and morphological types of anemia differ by age among under five children: A facility-based study

Heliyon, 2022
Background: World Health Organization recently acknowledged the proportion of anemia attributable to iron deficiency among under-five children could be lower than the previously assumed 50%.
Anteneh Omer, Dejene Hailu, Gezahegn Nigusse, Afework Mulugeta   +3 more
doaj   +1 more source

Case report: Severe combined immunodeficiency with ligase 1 deficiency and Omenn-like manifestation

Frontiers in Immunology, 2022
DNA ligase I deficiency is an extremely rare primary immunodeficiency with only 6 patients reported in the literature. Most common manifestations include radiosensitivity, macrocytic anemia, lymphopenia with an increased percentage of gamma-delta T cells,
Nel Dabrowska-Leonik, Agata Karolina Pastorczak, Katarzyna Bąbol-Pokora, Katarzyna Bernat-Sitarz, Barbara Piątosa, Edyta Heropolitańska-Pliszka, Magdalena M. Kacprzak, Krzysztof Kalwak, Katarzyna Gul, Mirjam van der Burg, Marek Ussowicz, Malgorzata Pac   +11 more
doaj   +1 more source

Comparison of Frequency and Types of Anemia in Subclinical Hypothyroidism and Euthyroidism

Pakistan Armed Forces Medical Journal, 2023
Objective: To compare the frequency and types of anemia in subclinical hypothyroid and euthyroid patients. Study Design: Comparative cross sectional study. Place and Duration: Department of Medicine, PNS Shifa, Karachi Pakistan, from Jun 2019 to Dec
Sardar Jawad Gul, Zil-e-Humayun Mirza, Waqas Ahmed, Sardar Fawad Gul, Kiran Gul, Rabia Basri   +5 more
doaj   +1 more source