Zobrazeno 1 - 10
of 598
pro vyhledávání: '"Aceruloplasminemia"'
Autor:
Valeria Mannella, Linda Chaabane, Tamara Canu, Alan Zanardi, Sara Raia, Antonio Conti, Barbara Ferrini, Andrea Caricasole, Giovanna Musco, Massimo Alessio
Publikováno v:
FEBS Open Bio, Vol 14, Iss 2, Pp 258-275 (2024)
Ceruloplasmin (Cp) is a ferroxidase that plays a role in cellular iron homeostasis and is mainly expressed in the liver and secreted into the blood. Cp is also produced by adipose tissue, which releases it as an adipokine. Although a dysfunctional in
Externí odkaz:
https://doaj.org/article/7bb64e28fecd4037b386971e41ba78a6
Autor:
Sai D Yaranagula, Neeharika L Mathukumalli, Sruthi Kola, Rukmini M Kandadai, Vanakuru Prasad, Rajesh Alugolu, Rupam Borgohain
Publikováno v:
Annals of Indian Academy of Neurology, Vol 26, Iss 6, Pp 994-996 (2023)
To report a patient with concomitant aceruloplasminemia (with a novel mutation) and IgG4-related pachymeningitis and to hypothesize on the possible relation between the two diseases. Clinical, radiological, and laboratory features of a 56-year-old la
Externí odkaz:
https://doaj.org/article/367d64da2dcc4b42ad7406a028d7d34e
Akademický článek
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Autor:
Imen Ketata, Emna Ellouz
Publikováno v:
Rare, Vol 1, Iss , Pp 100010- (2023)
Background and purpose: Aceruloplasminemia is an uncommon genetic disorder with considerable diversity in clinical manifestations and tissue iron overload, whose underlying mechanisms are unclear. We aim to explain early and follow-up clinical/biolog
Externí odkaz:
https://doaj.org/article/0b52ab5109844166b662d192e47efa85
Autor:
mustafa özay, zafer bıçakçı
Publikováno v:
Mediterranean Journal of Hematology and Infectious Diseases, Vol 14, Iss 1 (2022)
Externí odkaz:
https://doaj.org/article/89e04cbc614d46f1ba253cddd63d6a05
Akademický článek
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Autor:
Hervé Lobbes, Quitterie Reynaud, Sabine Mainbourg, Claire Savy-Stortz, Martine Ropert, Edouard Bardou-Jacquet, Stéphane Durupt
Publikováno v:
Frontiers in Neuroscience, Vol 16 (2022)
Aceruloplasminemia is a rare autosomal recessive inherited disorder. Mutations in the ceruloplasmin gene cause depressed ferroxidase activity leading to iron accumulation. The clinical phenotype is highly variable: anemia, retinopathy, diabetes melli
Externí odkaz:
https://doaj.org/article/a9bf0aa8908248cd9ce2285c83a381fc
Autor:
Sara Raia, Antonio Conti, Alan Zanardi, Barbara Ferrini, Giulia Maria Scotti, Enrica Gilberti, Giuseppe De Palma, Samuel David, Massimo Alessio
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 2, p 1150 (2023)
Ceruloplasmin is a ferroxidase that plays a role in iron homeostasis; its deficiency fosters inter alia iron accumulation in the liver, which expresses the soluble form of the protein secreted into the bloodstream. Ceruloplasmin is also secreted by t
Externí odkaz:
https://doaj.org/article/fce228ea982b42189c0d662851e03e5f
Publikováno v:
Clinical Case Reports, Vol 10, Iss 3, Pp n/a-n/a (2022)
Abstract Aceruloplasminemia is an autosomal recessive disease, caused by systemic iron accumulation due to mutations in the Ceruloplasmin gene. We report two Iranian siblings who have been diagnosed with aceruloplasminemia. Although dementia has not
Externí odkaz:
https://doaj.org/article/60cd6d620cf847f88e25b5f2fc992704
Autor:
Mária Ondrejkovičová, Sylvia Dražilová, Monika Drakulová, Juan López Siles, Renáta Zemjarová Mezenská, Petra Jungová, Martin Fabián, Boris Rychlý, Miroslav Žigrai
Publikováno v:
BMC Gastroenterology, Vol 20, Iss 1, Pp 1-6 (2020)
Abstract Background Aceruloplasminaemia is a very rare autosomal recessive disorder caused by a mutation in the ceruloplasmin gene, which is clinically manifested by damage to the nervous system and retinal degeneration. This classical clinical pictu
Externí odkaz:
https://doaj.org/article/ccea115b715643bcb145806b35267f60