Zobrazeno 1 - 10
of 348
pro vyhledávání: '"Familial chylomicronemia syndrome"'
Autor:
Oliver Heath, Brooke Allender, Joel Smith, Elena Savva, Lucy Spencer, Elizabeth G. Bannister, Natasha J. Brown, Maureen S. Evans, Sharmila Kiss, Thomas H. Rozen, Joy Yaplito‐Lee
Publikováno v:
JIMD Reports, Vol 65, Iss 4, Pp 239-248 (2024)
Abstract Familial chylomicronemia syndrome (FCS) is a rare disorder of triglyceride (TG) metabolism caused by loss of function variants in one of five known canonical genes involved in chylomicron lipolysis and clearance—LPL, APOC2, APOA5, LMF1, an
Externí odkaz:
https://doaj.org/article/e0ae9d872ca24a4b99aab791f4a1c2dc
Autor:
Subadra Wanninayake, Antonio Ochoa‐Ferraro, Karishma Patel, Radha Ramachandran, Anthony S. Wierzbicki, Charlotte Dawson
Publikováno v:
JIMD Reports, Vol 65, Iss 4, Pp 249-254 (2024)
Abstract Familial chylomicronemia syndrome (FCS) is a rare inherited disorder characterized by severe hypertriglyceridemia, posing a heightened risk of acute pancreatitis. Recently, Volanesorsen, an APOC3 antisense oligonucleotide, gained approval fo
Externí odkaz:
https://doaj.org/article/62e64755b2774fcea8377b3605822b5f
Autor:
Manal Mustafa, Mira Almheiri
Publikováno v:
Annals of Pediatric Endocrinology & Metabolism, Vol 29, Iss 2, Pp 130-134 (2024)
Familial chylomicronemia syndrome (FCS) is a rare autosomal recessive disease affecting lipoprotein metabolism. FCS is estimated to occur in 1 in 1–2 million individuals and can be diagnosed at any age, equally affecting all genders, races, and eth
Externí odkaz:
https://doaj.org/article/637a5610c1c64ae28dc5c44fe6af0225
Autor:
Yuepeng Hu, Jian-Min Chen, Han Zuo, Na Pu, Guofu Zhang, Yichen Duan, Gang Li, Zhihui Tong, Weiqin Li, Baiqiang Li, Qi Yang
Publikováno v:
Lipids in Health and Disease, Vol 23, Iss 1, Pp 1-10 (2024)
Abstract Background Lipoprotein lipase (LPL) plays a crucial role in triglyceride hydrolysis. Rare biallelic variants in the LPL gene leading to complete or near-complete loss of function cause autosomal recessive familial chylomicronemia syndrome. H
Externí odkaz:
https://doaj.org/article/7eacbf00ac0f4b20924505722c98d8de
Autor:
Charles Marques Lourenco, Pablo Corral, Raul D. Santos, Juan Patricio Nogueira, Carlos O. Mendivil, José L. Santos, Harry Pachajoa, Virginia Bañares, Maria Belen Mattos-Velez
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 12 (2024)
Abstract Familial chylomicronemia syndrome (FCS) is an autosomal recessive disorder, characterized by alterations in the catabolism of chylomicrons and by increased levels of plasma triglycerides. It has been shown that about 60-90% of FCS patients h
Externí odkaz:
https://doaj.org/article/a19a7e91ec1e49499e50bead991d6814
Autor:
Kate Williams, Georgina Tickler, Pedro Valdivielso, Jordi Alonso, Montserrat Vera-Llonch, Laia Cubells, Sarah Acaster
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-12 (2023)
Abstract Background Familial chylomicronemia syndrome (FCS) is a rare, hereditary, metabolic disorder. FCS causes high levels of triglycerides in the blood, which can lead to abdominal pain, xanthomas, and acute pancreatitis (AP). Volanesorsen, along
Externí odkaz:
https://doaj.org/article/04d9ca235bee4d0aa265e5dc7d632476
Akademický článek
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Akademický článek
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Autor:
Ilenia Lorenza Calcaterra, Renata Santoro, Nicoletta Vitelli, Ferdinando Cirillo, Guido D’Errico, Cornelia Guerrino, Giovanna Cardiero, Maria Donata Di Taranto, Giuliana Fortunato, Gabriella Iannuzzo, Matteo Nicola Dario Di Minno
Publikováno v:
Biomedicines, Vol 12, Iss 9, p 2017 (2024)
Background: The antisense oligonucleotide against APOC3 mRNA volanesorsen was recently introduced to treat Familial Chylomicronemia Syndrome (FCS). Cases of decreased platelet count are reported among patients treated with volanesorsen. The aim of th
Externí odkaz:
https://doaj.org/article/f8af8b946b8d41299c94c8d765189df0
Autor:
Guofu Zhang, Yuepeng Hu, Qi Yang, Na Pu, Gang Li, Jingzhu Zhang, Zhihui Tong, Emmanuelle Masson, David N. Cooper, Jian-Min Chen, Weiqin Li
Publikováno v:
Lipids in Health and Disease, Vol 22, Iss 1, Pp 1-18 (2023)
Abstract Background Lipoprotein lipase (LPL) is the rate-limiting enzyme for triglyceride hydrolysis. Homozygous or compound heterozygous LPL variants cause autosomal recessive familial chylomicronemia syndrome (FCS), whereas simple heterozygous LPL
Externí odkaz:
https://doaj.org/article/6e0b2acecd7045c7b7befd71c176c5b1