Zobrazeno 1 - 10
of 380
pro vyhledávání: '"glucosylsphingosine"'
Autor:
Irene Serrano-Gonzalo, Laura López de Frutos, Carlos Lahoz-Gil, Francisco Delgado-Mateos, María Ángeles Fernández-Galán, Montserrat Morales-Conejo, María Victoria Calle-Gordo, Daiana Ibarretxe-Gerediaga, Andrés Madinaveitia-Ochoa, Antonio Albarracin-Arraigosa, José Balanzat-Muñoz, Patricia Correcher-Medina, Luis Javier García-Frade, Jesús María Hernández-Rivas, Francesca Labbadia, Jesus Miguel López-Dupla, María Luisa Lozano-Almela, Elvira Mora-Casterá, María Soledad Noya-Pereira, María Ángeles Ruíz-Guinaldo, María del Mar Tormo-Díaz, Isidro Vitoria-Miñana, Isidro Arévalo-Vargas, Marcio Andrade-Campos, Pilar Giraldo
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-12 (2023)
Abstract Background The availability of multiple treatments for type 1 Gaucher disease increases the need for real-life studies to evaluate treatment efficacy and safety and provide clinicians with more information to choose the best personalized the
Externí odkaz:
https://doaj.org/article/117cc15479cb4170b8e7211100fa9146
Autor:
Pawel Dubiela, Paulina Szymanska-Rozek, Piotr Hasinski, Patryk Lipinski, Grazina Kleinotiene, Dorota Giersz, Anna Tylki-Szymanska
Publikováno v:
Biomolecules, Vol 14, Iss 7, p 842 (2024)
Background: Gaucher disease (GD) is a lysosomal storage disorder caused by mutations in the GBA1 gene, leading to β-glucocerebrosidase deficiency and glucosylceramide accumulation. Methods: We analyzed short- and long-term dynamics of lyso-glucosylc
Externí odkaz:
https://doaj.org/article/beef81b50a8349ceb2834646c8c9db0c
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 37, Iss , Pp 100993- (2023)
Background: Gaucher's and Fabry's disease are two of the most common treatable lysosomal storage diseases, and have a wide spectrum of clinical symptoms. Early detection is important, because timely initiation of treatments can improve the disease st
Externí odkaz:
https://doaj.org/article/8b35a048a05b4ff2be7d1d374afb5992
Publikováno v:
Frontiers in Immunology, Vol 14 (2023)
Subsets of patients diagnosed with a monoclonal gammopathy of undetermined significance (MGUS), smoldering multiple myeloma (SMM) or multiple myeloma (MM), present with a monoclonal immunoglobulin (Ig) specific for an infectious pathogen, including h
Externí odkaz:
https://doaj.org/article/df248dacaf5e4caebd391bab8cab15de
Autor:
Gaetano Giuffrida, Uros Markovic, Annalisa Condorelli, Valeria Calafiore, Daniela Nicolosi, Marianna Calagna, Stephanie Grasso, Marco Tindaro Valentino Ragusa, Jennifer Gentile, Mariasanta Napolitano
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-13 (2023)
Abstract Background Gaucher disease (GD) is a rare, inherited, autosomal recessive disorder caused by a deficiency of the lysosomal enzyme, acid β-glucosidase. Its diagnosis is achieved via measurements of acid β-glucosidase activity in either fres
Externí odkaz:
https://doaj.org/article/ec6ba389d47e4667a7e39cb9ba5a2240
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-10 (2022)
Abstract Background Gaucher disease (GD) is an autosomal recessive disease caused by GBA1 mutations resulting in glucosylceramide accumulation in macrophages. GD is characterized by hepatosplenomegaly, anemia, thrombocytopenia, bone complications, an
Externí odkaz:
https://doaj.org/article/05a8fbbe616a454bbe21dda1941c5e11
Autor:
Vincenza Gragnaniello, Alessandro P. Burlina, Renzo Manara, Chiara Cazzorla, Laura Rubert, Daniela Gueraldi, Ermanno Toniolli, Emilio Quaia, Alberto B. Burlina
Publikováno v:
JIMD Reports, Vol 63, Iss 5, Pp 414-419 (2022)
Abstract Gaucher disease (GD) is a lysosomal disorder characterized by the storage of glucosylceramide in macrophages (“Gaucher cells”), particularly in the spleen, liver, and bone marrow. The most common phenotype, GD type 1, usually presents wi
Externí odkaz:
https://doaj.org/article/559bfebfaf6a49b09caec0f0795cb268
Autor:
Mohsen Basiri, Mohammad E Ghaffari, Jiapeng Ruan, Vagishwari Murugesan, Nathaniel Kleytman, Glenn Belinsky, Amir Akhavan, Andrew Lischuk, Lilu Guo, Katherine Klinger, Pramod K Mistry
Publikováno v:
eLife, Vol 12 (2023)
Background: A salutary effect of treatments for Gaucher disease (GD) has been a reduction in the incidence of avascular osteonecrosis (AVN). However, there are reports of AVN in patients receiving enzyme replacement therapy (ERT) , and it is not know
Externí odkaz:
https://doaj.org/article/bc28095fe0fd4a5d9a79ffe5c67417b5
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