Results 11 to 20 of about 310,045 (234)

A novel mutation in the SLC19A2 gene in a Turkish male with thiamine-responsive megaloblastic anemia syndrome

open access: yesThe Turkish Journal of Pediatrics, 2019
Thiamine-responsive megaloblastic anemia (TRMA) is a very rare syndrome characterized by the triad of early onset megaloblastic anemia, sensorineural deafness and diabetes mellitus.
Işık Odaman-Al   +8 more
doaj   +2 more sources

Megaloblastic anemia - A clinical spectrum and a hematological profile: The day-to-day public health problem

open access: yesMedical Journal of Dr. D.Y. Patil University, 2016
Aims and Objectives: To know the various parameters and diagnostic approach of megaloblastic anemia. To know the age incidence and sex ratio. Materials and Methods: A hospital-based retrospective and prospective study was done for a period of 1-year ...
S Srikanth
doaj   +2 more sources

Comparative Assessment of Vitamin-B12, Folic Acid and Homocysteine Levels in Relation to p53 Expression in Megaloblastic Anemia. [PDF]

open access: yesPLoS ONE, 2016
Megaloblastic anemia (MBA), also known as macrocytic anemia, is a type of anemia characterized by decreased number of RBCs as well as the presence of unusually large, abnormal and poorly developed erythrocytes (megaloblasts), which fail to enter blood ...
Manish K Yadav   +2 more
doaj   +2 more sources

A Novel Mutation of SLC19A2 in a Chinese Zhuang Ethnic Family with Thiamine-Responsive Megaloblastic Anemia

open access: yesCellular Physiology and Biochemistry, 2018
Background/Aims: Thiamine-responsive megaloblastic anemia syndrome is a rare autosomal recessive disorder resulting from mutations in SLC19A2, and is mainly characterized by megaloblastic anemia, diabetes, and progressive sensorineural hearing loss ...
Xiaoying Xian   +7 more
doaj   +2 more sources

Iron deficiency anemia and megaloblastic anemia in obese patients

open access: yesRomanian Journal of Internal Medicine, 2017
Background. The association between obesity and different types of anemia remained uncertain. The present study aimed to assess the relation between obesity parameters and the occurrence of iron deficiency anemia and also megaloblastic anemia among ...
Arshad Mahmoud   +5 more
doaj   +2 more sources

Utility of serum lactate dehydrogenase in the diagnosis of megaloblastic anemia [PDF]

open access: yesInternational Journal of Research in Medical Sciences, 2018
Background: Megaloblastc anemia corresponds to severe macrocytic anemia with hypersegmented neutrophils and very high serum Lactate Dehydrogenase (LDH). The present study was undertaken to evaluate the utility of serum LDH and chloroform inhibited serum ...
Gaikwad, Amrapali L., Jadhav, D. S.
core   +3 more sources

Arrhythmia in thiamine responsive megaloblastic anemia syndrome

open access: yesThe Turkish Journal of Pediatrics, 2018
Thiamine responsive megaloblastic anemia syndrome (TRMAS) is a rare, autosomal recessive disorder characterized by megaloblastic anemia, diabetes mellitus, and progressive sensorineural deafness.
Mustafa Argun   +6 more
doaj   +2 more sources

Ameliorative Effect of Beetroot Against Folic Acid Deficiency: A Review. [PDF]

open access: yesFood Sci Nutr
Beets, as well as folic acid supplements, provide a possible nutritional intervention for nutritional insufficiency, and this is especially true in functional foods. Offering a holistic explanation of beetroot's medicinal properties, this paper explores the means by which its bioactive constituents can counteract the adverse effects of folic acid ...
Rasheed A   +7 more
europepmc   +2 more sources

Digenic Functional B12 and Folate Defect Mimicking Myelodysplasia. [PDF]

open access: yesClin Case Rep
Proposed mechanistic model of mutation‐related outcomes. ABSTRACT A digenic defect involving CUBN and MTHFR produced functional B12/folate deficiency in a patient with pancytopenia and neurological signs, mimicking myelodysplasia. Genetic and metabolic screening revealed elevated methylmalonic acid/homocysteine, with rapid remission post‐parenteral B12.
Cluzeau T   +3 more
europepmc   +2 more sources

Home - About - Disclaimer - Privacy