Zobrazeno 1 - 10
of 140
pro vyhledávání: '"Juan, Politei"'
Autor:
Sebastián Jaurretche, Santiago Alonso, Mónica Calvo, Sebastián Fernandez, Heber Figueredo, Beatriz Galli, Ivanna Marin, Andrés Martinez, Silvia Mattausch, Fernando Perretta, Juan Politei, Juan Ignacio Rolon, Esteban Calabrese
Publikováno v:
Global Health, Epidemiology and Genomics, Vol 2024 (2024)
Fabry disease (FD) is a multisystem lysosomal storage disorder induced by genetic variants in the alpha-galactosidase A (αGalA) gene. Some FD patients have GLA variants with a reduction in overall αGalA enzymatic activity due to mutated proteins wi
Externí odkaz:
https://doaj.org/article/54f524d81b274994b15b5d1a1d6e49d5
Autor:
Richard Baquero Rodriguez, Ana Katherina Serrano Gayubo, Juan Carlos Prieto Rivera, Juan Guillermo Cardenas Aguilera, Carmen Inés Rodríguez Cuéllar, Maria Fernanda Reina Ávila, Mayra Alexandra Estévez Capacho, Heidy Mateus, Maylin Valencia González, Kelly Rocío Chacón Acevedo, Maria Paula Gutiérrez Sepúlveda, Dominique P Germain, Juan Politei, Alejandro Fabian Fainboim, Magdalena Cerón Rodríguez, Gustavo Cabrera, Edicson Rodríguez Ibarra, Martha Isabel Carrascal Guzmán, Lida Esperanza Martínez Cáceres, Sandra Yaneth Ospina Lagos, Hernán Trimarchi, Miguel Liern
Publikováno v:
Revista Ciencias de la Salud, Vol 21, Iss 3 (2023)
Antecedentes: La enfermedad de Fabry (EF) es una enfermedad rara ligada a X secundaria al depósito lisosomal de glicoesfingolípidos debido a la deficiencia de la enzima alfa galactosidasa A (α-Gal A). A pesar de su baja frecuencia, es una condici
Externí odkaz:
https://doaj.org/article/af4409f518254bde91f5bf4071f9aac5
Autor:
Daniel G. Bichet, Robert J. Hopkin, Patrício Aguiar, Sridhar R. Allam, Yin-Hsiu Chien, Roberto Giugliani, Staci Kallish, Sabina Kineen, Olivier Lidove, Dau-Ming Niu, Iacopo Olivotto, Juan Politei, Paul Rakoski, Roser Torra, Camilla Tøndel, Derralynn A. Hughes
Publikováno v:
Frontiers in Medicine, Vol 10 (2023)
ObjectiveFabry disease is a progressive disorder caused by deficiency of the α-galactosidase A enzyme (α-Gal A), leading to multisystemic organ damage with heterogenous clinical presentation. The addition of the oral chaperone therapy migalastat to
Externí odkaz:
https://doaj.org/article/95cf0962320c4c5da4b8e36cf0ea24fc
Autor:
Juan Politei, Gloria Liliana Porras‐Hurtado, Norberto Guelbert, Alejandro Fainboim, Dafne Dain Gandelman Horovitz, José María Satizábal
Publikováno v:
JIMD Reports, Vol 58, Iss 1, Pp 104-113 (2021)
Abstract Mucopolysaccharidosis type IVA (MPS IVA) is an autosomal recessive lysosomal storage disorder caused by mutations in the GALNS gene, which leads to deficient activity of N‐acetylglucosamine‐6‐sulfate sulfatase. MPS IVA patients usually
Externí odkaz:
https://doaj.org/article/f0fb260f41ed4795bd194a39e13c55a0
Autor:
Christoph Wanner, Virginia Kimonis, Juan Politei, David G. Warnock, Nurcan Üçeyler, Aline Frey, Peter Cornelisse, Derralyn Hughes
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 31, Iss , Pp 100862- (2022)
The use of available treatments for Fabry disease (FD) (including enzyme replacement therapy [ERT]) may be restricted by their limited symptom improvement and mode of administration. Lucerastat is currently being investigated in the MODIFY study as o
Externí odkaz:
https://doaj.org/article/f09088cf53034e76b7062a4699cd2c0e
Autor:
Luis Ramón Barros Camargo, Sandra Juliana Jiménez, Angelica Roncallo, Francisco López, Juan Carlos Conde, Theo Martínez, John Mauricio Lopera Vargas, Manuel Garzón, Kelly Rocío Chacón Acevedo, Juan Politei, Sebastián Jaurretche, Orlando Olivares, José Gabriel López, Gustavo María Ferrari, Javier Ibarra
Publikováno v:
Revista Colombiana de Nefrología, Vol 9, Iss 1, Pp e591-e591 (2022)
Contexto: la enfermedad de Fabry se comporta como una enfermedad crónica con compromiso multisistémico y alto costo en salud. Objetivo: generar recomendaciones basadas en la evidencia para el diagnóstico, el tratamiento y el seguimiento de la en
Externí odkaz:
https://doaj.org/article/343293679fbc4f3baa7cd8edf2c3cec9
Autor:
Alaa Hamed, Pronabesh DasMahapatra, Nicole Lyn, Chad Gwaltney, Charlie Iaconangelo, Daniel Serrano, Vijay Modur, Juan Politei
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 29, Iss , Pp 100824- (2021)
Background: Fabry disease (FD) is a rare, genetic disease, that if untreated, progresses to irreversible and life-threatening renal, cardiac, and cerebrovascular events. FD symptoms impact daily functioning and quality of life, but no disease-specifi
Externí odkaz:
https://doaj.org/article/d3371297b9c04aab9730b92e45a82f01
Autor:
Joaquín Frabasil, Consuelo Durand, Silvia Sokn, Daniela Gaggioli, Patricia Carozza, Ricardo Carabajal, Juan Politei, Andrea B. Schenone
Publikováno v:
JIMD Reports, Vol 48, Iss 1, Pp 45-52 (2019)
Abstract Background Fabry disease (FD) is an X‐linked lysosomal storage disorder caused by enzyme Alpha‐Galactosidase A (α‐Gal‐A) deficiency, due mutations in GLA gene. Progressive glycolipid accumulation leads to damage in kidney and other
Externí odkaz:
https://doaj.org/article/85e7954499a04297a85d4c31d999ebcb
Autor:
Dominique P. Germain, Sergey Moiseev, Fernando Suárez‐Obando, Faisal Al Ismaili, Huda Al Khawaja, Gheona Altarescu, Fellype C. Barreto, Farid Haddoum, Fatemeh Hadipour, Irina Maksimova, Mirelle Kramis, Sheela Nampoothiri, Khanh Ngoc Nguyen, Dau‐Ming Niu, Juan Politei, Long‐Sun Ro, Dung Vu Chi, Nan Chen, Sergey Kutsev
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 5, Pp n/a-n/a (2021)
Abstract Background Family genetic testing of patients newly diagnosed with a rare genetic disease can improve early diagnosis of family members, allowing patients to receive disease‐specific therapies when available. Fabry disease, an X‐linked l
Externí odkaz:
https://doaj.org/article/7133386bff6342479156e20d5b14da8e
Autor:
Robert J. Hopkin, Ulla Feldt-Rasmussen, Dominique P. Germain, Ana Jovanovic, Ana Maria Martins, Kathleen Nicholls, Alberto Ortiz, Juan Politei, Elvira Ponce, Carmen Varas, Frank Weidemann, Meng Yang, William R. Wilcox
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 25, Iss , Pp 100670- (2020)
Background: Fabry disease is an inherited disorder of glycolipid metabolism with progressive involvement of multiple organs, including the gastrointestinal tract, in classically affected male patients. Clinical presentations in males with later-onset
Externí odkaz:
https://doaj.org/article/539b308254b24c07ac41d8b8ceeb4b74