Rapid Improvement of Hyperpigmentation, Growth, and Developmental Milestones With High-Dose Hydroxocobalamin, Betaine, and Folinic Acid Treatment: The First Patient With Cobalamin G Deficiency in Taiwan. [PDF]
JIMD RepABSTRACT In this report, we present the case of a 16‐month‐old patient who was diagnosed with cobalamin G deficiency at 4 months of age via whole exome sequencing by detecting compound heterozygous variants of uncertain significance (VUS) in the MTR gene: (1) c.1283T>A, p.Met428Lys; (2) c.2411T>C, p.Ile804Thr. Before the diagnosis, the initial clinical
Wu CT, Huang SJ, Chen CC, Chiu PC.
europepmc +2 more sources
Acquired Elliptocytosis as a Manifestation of Myelodysplastic Syndrome with Ring Sideroblasts and Multilineage Dysplasia. [PDF]
, 2017 Acquired elliptocytosis is a known but rarely described abnormality in the myelodysplastic syndromes (MDS). Here we report the case of an elderly male who was admitted to the hospital with chest pain, dyspnea, and fatigue and was found to be anemic with ...
Dwyre, Denis M +2 more
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Pakistan Armed Forces Medical Journal, 2021 Objective: To study the diagnostic utility of lactate dehydrogenase levels in differentiating megaloblastic anemia from myelodysplastic anemia in Pakistan. Study Design: Comparative cross-sectional study.
Faraz Ali Rana +5 more
doaj
Thiamine-responsive megaloblastic anemia syndrome: A case report
Journal of Diabetology, 2020 Thiamine-responsive megaloblastic anemia (TRMA) syndrome is a rare autosomal recessive disorder characterized by a cardinal triad consisting of megaloblastic anemia, sensorineural deafness, and diabetes mellitus.
Omkar Patil +5 more
doaj +1 more source
Clinical and experimental studies on folic acid deficiency due to anticonvulsants. I. Clinical and nutritional study on megalobastic anemia due to anticonvulsants [PDF]
, 1971 Two cases of megaloblastic anemia associated with anticonvulsant drugs were studied. Both cases were inpatients of psychiatric hospitals and had quite inadequate intakes of food. The former had lung tuber. culosis and the second had febril illness before
Taguchi, Hirokuni
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Identification of a SLC19A2 nonsense mutation in Persian families with thiamine-responsive megaloblastic anemia [PDF]
, 2013 This is an Open Access article. A definitive version was published in Gene, Vol.519, issue 2, (2013) doi: 10.1016/j.gene.2013.02.008.Thiamine-responsive megaloblastic anemia (TRMA) is an autosomal recessive syndrome characterized by early-onset anemia ...
Alireza Haghighi +15 more
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Deoxyuridine suppression test: a comparison of two methods and effect of thymidine on the incorporation of 3H-deoxyuridine into DNA in human bone marrow cells [PDF]
, 1977 Deoxyuridine suppression tests have been performed by two different methods of six normoblastic and eight megaloblastic marrows. A good correlation was obtained between the results by the modified and the original methods. The simplified method was found
Chanarin, Israel +2 more
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Two Cases of Primary Cold Agglutinin Disease Associated with Megaloblastic Anemia
Case Reports in Hematology, 2015 We report two cases of primary cold agglutinin disease (CAD) associated with megaloblastic anemia in Japanese elderly patients. Case 1 was a 67-year-old male and Case 2 was a 55-year-old male.
Shinsaku Imashuku +3 more
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The 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 +1 more source
Premarital screening of 466 Mediterranean women for serum ferritin, vitamin B12, and folate concentrations [PDF]
, 2015 Background/aim: Iron, folate, and vitamin B12 serum levels are closely related with dietary habits and have an essential role in the healthy development of a fetus.
Demirciler, İ. +5 more
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