Results 21 to 30 of about 303,350 (158)

Macrocytic Anemia In Lesch-Nyhan Disease and its Variants

Genetics in Medicine, 2018
Lesch–Nyhan disease is an inherited metabolic disorder characterized by overproduction of uric acid and neurobehavioral abnormalities. The purpose of this study was to describe macrocytic erythrocytes as another common aspect of the phenotype.
H. Çakmaklı, R. Torres, A. Menendez, G. Yalcin-Cakmakli, C. Porter, J. Puig, H. Jinnah   +6 more
semanticscholar   +1 more source

TASP1 mutation in a female with craniofacial anomalies, anterior segment dysgenesis, congenital immunodeficiency and macrocytic anemia

Molecular Genetics & Genomic Medicine, 2019
Threonine Aspartase 1 (Taspase 1) is a highly conserved site‐specific protease whose substrates are broad‐acting nuclear transcription factors that govern diverse biological programs, such as organogenesis, oncogenesis, and tumor progression. To date, no
Daniel M Balkin, Menitha Poranki, Craig M. Forester, M. Dorsey, A. Slavotinek, J. Pomerantz   +5 more
semanticscholar   +1 more source

Potential contributors to low dose methotrexate toxicity in a patient with rheumatoid arthritis and pernicious anemia: case report

BMC Rheumatology, 2021
Background Low dose methotrexate toxicity rarely occurs, but may present with severe complications, such as pancytopenia, hepatotoxicity, mucositis, and pneumonitis.
Miguel A. Jara-Palacios, William Chun, Nomi L. Traub   +2 more
doaj   +1 more source

Diamond-Blackfan anemia.

Hematology. American Society of Hematology. Education Program, 2021
Diamond-Blackfan anemia (DBA) is an inherited bone marrow failure syndrome, characterized as a rare congenital bone marrow erythroid hypoplasia (OMIM#105650).
L. D. Da Costa, Isabelle Marie, Thierry Leblanc   +2 more
semanticscholar   +1 more source

Animal models of Diamond-Blackfan anemia: updates and challenges

Haematologica, 2022
Diamond-Blackfan anemia (DBA) is a ribosomopathy that is characterized by macrocytic anemia, congenital malformations, and early onset during childhood.
Y. L. Liu, A. Shibuya, B. Glader, M. Wilkes, M. Barna, K. Sakamoto   +5 more
semanticscholar   +1 more source

A Case-Control Study of the MTHFR C665T Gene Polymorphism on Macrocytic Anemia Among HIV-Infected Patients Receiving Zidovudine

Journal of Multidisciplinary Healthcare, 2022
Danis Pertiwi,1 Muchlis Achsan Udji Sofro,2 Tri Indah Winarni,3 Ari Natalia Probandari4 1Department of Clinical Pathology, Faculty of Medicine, Universitas Islam Sultan Agung, Semarang, Indonesia; 2Department of Tropical and Infectious Disease, Dr ...
Pertiwi D, Sofro MAU, Winarni TI, Probandari AN   +3 more
doaj  

Anemia: An approach to evaluation, 2014

CHRISMED Journal of Health and Research, 2015
Anemia is very commonly encountered in general clinical practice among all age groups. The more commonly used way to classify anemia has been to categorize it as being microcytic (mean corpuscular volume [MCV] 100 fL), which in turn allows for a more ...
Philip Kuriakose
doaj   +1 more source

Does aging have an impact on hemoglobin? Study in elderly population at rural teaching hospital

Journal of Family Medicine and Primary Care, 2019
Background: The prevalence of anemia increases with age. Some serious underlying conditions may lead to anemia in the old age. The present study was undertaken to detect and do morphological typing of anemia and further delineate etiological factors in ...
Nitin Raisinghani, Sunil Kumar, Sourya Acharya, Aditi Gadegone, Vinay Pai   +4 more
doaj   +1 more source

Folic Acid-Induced Fall in Phenytoin Levels and Seizure Recurrence

Pediatric Neurology Briefs, 2005
Recurrence of seizures is reported in an adult after addition of folic acid for treatment of a macrocytic anemia.
J Gordon Millichap
doaj   +1 more source

Murine tribbles homolog 2 deficiency affects erythroid progenitor development and confers macrocytic anemia on mice

Scientific Reports, 2016
Tribbles homolog 2 (Trib2) is a member of Tribbles protein pseudokinases and involves in apoptosis, autoimmunity, cancer, leukemia and erythropoiesis, however, the physiological function of Trib2 in hematopoietic system remains to be elucidated. Here, we
Kou-Ray Lin, H. Yang-Yen, Huang-Wei Lien, Wei-Hao Liao, Chang-jen Huang, Liang-In Lin, Chung-Leung Li, J. Yen   +7 more
semanticscholar   +1 more source