Zobrazeno 1 - 10
of 1 731
pro vyhledávání: '"haemochromatosis"'
Autor:
Lídia Romero‐Cortadellas, Veronica Venturi, Juan Carlos Martín‐Sánchez, Ketil Toska, Dianne Prince, Barbara Butzeck, Graça Porto, Nils Thorm Milman, HI/EFAPH Survey Committee, Mayka Sánchez
Publikováno v:
Health Expectations, Vol 26, Iss 6, Pp 2293-2301 (2023)
Abstract Background Chronic diseases are associated with a range of functional and psychosocial consequences that can adversely affect patients' quality of life (QoL). Haemochromatosis (HC) is a genetically heterogeneous disorder characterized by chr
Externí odkaz:
https://doaj.org/article/98d0735b2e6d44c6b5c354bb75731214
Publikováno v:
Journal of Clinical and Diagnostic Research, Vol 17, Iss 12, Pp 01-03 (2023)
Iron’s role in diabetes pathophysiology is underrecognised. Authors describe three cases (two females and one male) with evidence of ‘ferro-immune’ hybrid diabetes, HFE C282Y homozygosity with islet autoimmunity. Case one describes iron overloa
Externí odkaz:
https://doaj.org/article/b32c9774a13043c9a21b7ef0e972445f
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
Akademický článek
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Autor:
Eleanor Ryan, Keith Mulready, Erwin Wiegerinck, Jennifer Russell, Dorine W. Swinkels, Stephen Stewart
Publikováno v:
eJHaem, Vol 3, Iss 3, Pp 644-652 (2022)
Abstract C282Y homozygotes exposed to sustained elevated transferrin saturation (TS) may develop worsening clinical symptoms. This might be related to the appearance of non‐transferrin bound iron (NTBI) when TS≥50% and labile plasma iron (LPI) wh
Externí odkaz:
https://doaj.org/article/cfb7befc0f35403091bb1550cf0f318c
Publikováno v:
Bone & Joint Open, Vol 2, Iss 12, Pp 1062-1066 (2021)
Aims: Hereditary haemochromatosis is a genetic disorder that is caused by several known mutations in the human homeostatic iron regulator protein (HFE) gene. Abnormal accumulation of iron causes a joint disease that resembles osteoarthritis (OA), but
Externí odkaz:
https://doaj.org/article/d039908499354ae9a671f3110011bdb6
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Liyan Wu, Wei Zhang, Yanmeng Li, Donghu Zhou, Bei Zhang, Anjian Xu, Zhen Wu, Lina Wu, Shuxiang Li, Xiaoming Wang, Xinyan Zhao, Qianyi Wang, Min Li, Yu Wang, Hong You, Jian Huang, Xiaojuan Ou, Jidong Jia
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)
Abstract Background Hereditary hemochromatosis (HH) is widely recognized and clinical manifestations of hemochromatosis-related (HFE-related) HH is well studied in European populations. Less is known about the clinical and laboratory characteristics
Externí odkaz:
https://doaj.org/article/94d31a390cac495783818dd9532391f0
Publikováno v:
BMC Nephrology, Vol 22, Iss 1, Pp 1-5 (2021)
Abstract Background Iron overload is inevitably related to chronic kidney disease (CKD) treatment. Haemochromatosis leads to multiorgan damage and is associated with increased mortality. Primary haemochromatosis is the most common autosomal recessive
Externí odkaz:
https://doaj.org/article/71c8ae1d88a845b6a822ecf78b9e3f86
Autor:
M. I. Gonik, M. S. Zharkova, O. Yu. Kiseleva, E. V. Berezina, Sh. A. Ondos, Yu. V. Lerner, E. A. Kogan, V. T. Ivashkin
Publikováno v:
Российский журнал гастроэнтерологии, гепатологии, колопроктологии, Vol 31, Iss 1, Pp 64-73 (2021)
Aim. A clinical description of end-stage hereditary haemochromatosis manifested with chronic alcohol abuse.Key points. A 50-yo patient referred with marked general weakness as a major complaint. The patient had a history of long-term alcohol consumpt
Externí odkaz:
https://doaj.org/article/e69d1f3aef2343249ae1d671a5c2aede