Zobrazeno 1 - 10
of 721
pro vyhledávání: '"h63d"'
Publikováno v:
مجلة علوم ذي قار, Vol 11, Iss 1 (2024)
Hemochromatosis is a prevalent hereditary disorder that causes excess iron to build up in the body to dangerous levels. Hereditary hemochromatosis, also known as HFE-related hemochromatosis is carried on by changes in the HFE gene. Investigating the
Externí odkaz:
https://doaj.org/article/db65499a3c964fc990ab59ab41d5b014
Publikováno v:
Journal of Applied Hematology, Vol 15, Iss 1, Pp 55-61 (2024)
BACKGROUND: β-thalassemia major (βTM) is a genetic disorder characterized by a deficiency in hemoglobin production, ineffective erythropoiesis, chronic hemolysis, lifelong blood transfusions, iron overload, and increased risk of cardiac complicatio
Externí odkaz:
https://doaj.org/article/c6d0ad39f78047dcb2f5470cacd4534e
Autor:
M. C. P. Madurapperuma, R . B. A. T. Dulanjalie, T. M. H. M. Thennakoon, K. W. Gunawardena, W. W. L. A. Jayanaga, V. H. W. Dissanayake
Publikováno v:
Asian Journal of Internal Medicine, Vol 2, Iss 2 (2023)
Hereditary spherocytosis (HS) refers to a group of autosomal dominantly inherited heterogeneous hereditary haemolytic anaemias (HHA). Significant iron overload in HS is uncommon. Iron overload has been described as a complication of HS when there is
Externí odkaz:
https://doaj.org/article/4051818d96a0451e8d1738e3c9e8b2dd
Publikováno v:
Iraqi Journal of Hematology, Vol 11, Iss 1, Pp 60-64 (2022)
BACKGROUND: Iron overload certainly will develop in β-thalassemia major. Iron homeostasis was mostly regulated by hepcidin that synthesized in the liver and encoded by the hepcidin antimicrobial peptide (HAMP) gene. HAMP and HFE genes, respectively,
Externí odkaz:
https://doaj.org/article/03e03fa00a474919833c974d5f3ce601
Autor:
Grégoria Kalpouzos, Francesca Mangialasche, Farshad Falahati, Erika J Laukka, Goran Papenberg
Publikováno v:
Neuropsychopharmacology Reports, Vol 41, Iss 3, Pp 393-404 (2021)
Abstract Background Brain iron overload is linked to brain deterioration, and cognitive and motor impairment in neurodegenerative disorders and normal aging. Mutations in the HFE gene are associated with iron dyshomeostasis and are risk factors for p
Externí odkaz:
https://doaj.org/article/5efcd0798f004711b3b40fb614aaae87
Publikováno v:
Clinical Case Reports, Vol 8, Iss 12, Pp 2341-2345 (2020)
Abstract β‐thalassemia heterozygosity can cause significant iron overload when accompanied by HFE gene mutations and inappropriate iron supplementation.
Externí odkaz:
https://doaj.org/article/abd2691dbe06429e971a008671080409
Publikováno v:
Journal of Medical Case Reports, Vol 14, Iss 1, Pp 1-4 (2020)
Abstract Introduction Hereditary hemochromatosis is an inherited disorder of iron metabolism, characterized by excessive iron deposition in major organs of the body, leading to multi-organ dysfunction. It is a genetically heterogeneous disease caused
Externí odkaz:
https://doaj.org/article/4e388a0c28314915bc5350c6e44289d0
Publikováno v:
Baltic Journal of Health and Physical Activity, Vol 11, Iss 2, Pp 26-35 (2019)
Background: The aim of the study was to compare the influence of exercise on iron metabolism and hepcidin concentration between carriers of His63Asp mutation (H63D polymorphism) and wild type HFE gene males. Iron is an essential micronutrient requ
Externí odkaz:
https://doaj.org/article/1edcd1ba7f4f4ab69a346b8c5cc99730
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