Zobrazeno 1 - 10
of 255
pro vyhledávání: '"Dominique, P Germain"'
Autor:
Giancarlo Parenti, Simona Fecarotta, Marianna Alagia, Federica Attaianese, Alessandra Verde, Antonietta Tarallo, Vincenza Gragnaniello, Athanasia Ziagaki, Maria Jose’ Guimaraes, Patricio Aguiar, Andreas Hahn, Olga Azevedo, Maria Alice Donati, Beata Kiec-Wilk, Maurizio Scarpa, Nadine A. M. E. van der Beek, Mireja Del Toro Riera, Dominique P. Germain, Hidde Huidekoper, Johanna M. P. van den Hout, Ans T. van der Ploeg, and the MetabERN Subnetwork for Lysosomal Disorders
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-23 (2024)
Abstract Clinical pathway recommendations (CPR) are based on existing guidelines and deliver a short overview on how to deal with a specific diagnosis, resulting therapy and follow-up. In this paper we propose a methodology for developing CPRs for Po
Externí odkaz:
https://doaj.org/article/ef4620eaa39f4a08bbe3b14b878a0993
Autor:
Dominique P. Germain, Alice Porto Vasconcelos, Lien Tran Thi Phuong, Najya Bedreddine, Mihaela Turcan, Wenting Trang, Lynda Barache
Publikováno v:
Biomedicines, Vol 12, Iss 11, p 2578 (2024)
Background: The multisystem manifestations of Fabry disease can create major challenges in patient care. Although enzyme replacement therapy with recombinant agalsidase beta has demonstrated clinical benefits, the standard fortnightly, multi-hour inf
Externí odkaz:
https://doaj.org/article/84abcc25d019449bba3242463981b215
Autor:
Dominique P. Germain, Ales Linhart
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Fabry disease, a rare X-linked genetic disorder, results from pathogenic variants in GLA, leading to deficient lysosomal α-galactosidase A enzyme activity and multi-organ manifestations. Since 2001, enzyme replacement therapy (ERT), using agalsidase
Externí odkaz:
https://doaj.org/article/1c858e76d54a4a80b66b9f63a998cfb0
Autor:
Oscar Werner, Lydia Ichay, Nabila Djouadi, Fernando Vetromile, Marie Vincenti, Sophie Guillaumont, Dominique P. Germain, Marc Fila
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 38, Iss , Pp 101044- (2024)
Background: Fabry disease (FD) is a rare X-linked lysosomal disorder caused by pathogenic variants in the alpha-galactosidase-A gene (GLA). Life threatening complications in adulthood include chronic kidney failure, strokes and the cardiac involvemen
Externí odkaz:
https://doaj.org/article/9d45763d3ba54ee58e725f1ef30e3bcb
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:
Ivana Dabaj, Robert Y. Carlier, Klaus Dieterich, Isabelle Desguerre, Julien Faure, Norma B. Romero, Wenting Trang, Susana Quijano-Roy, Dominique P. Germain
Publikováno v:
Frontiers in Genetics, Vol 13 (2023)
Background: Sheldon–Hall syndrome (SHS) or distal arthrogryposis 2B (DA2B) is a rare clinically and genetically heterogeneous multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs and mild facial i
Externí odkaz:
https://doaj.org/article/3ae4d9f0200244718e5054798c47ea83
Autor:
Christoph Wanner, Ulla Feldt‐Rasmussen, Ana Jovanovic, Aleš Linhart, Meng Yang, Elvira Ponce, Eva Brand, Dominique P. Germain, Derralynn A. Hughes, John L. Jefferies, Ana Maria Martins, Albina Nowak, Bojan Vujkovac, Frank Weidemann, Michael L. West, Alberto Ortiz
Publikováno v:
ESC Heart Failure, Vol 7, Iss 3, Pp 825-834 (2020)
Abstract Aims Long‐term treatment effect studies in large female Fabry patient groups are challenging to design because of phenotype heterogeneity and lack of appropriate comparison groups, and have not been reported. We compared long‐term cardio
Externí odkaz:
https://doaj.org/article/d245bf80912e439eb9ef9a86af5c8b32
Autor:
Esther Noël, Bertrand Dussol, Didier Lacombe, Najya Bedreddine, Alain Fouilhoux, Pierre Ronco, Delphine Genevaz, Soumeya Bekri, Albert Hagège, Frédérique Dupuis-Siméon, Valérie Derrien Ansquer, Dominique P. Germain, Olivier Lidove
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-10 (2019)
Abstract Background Fabry disease (FD) is a rare, X-linked, inherited lysosomal disease caused by absent or reduced α-galactosidase A activity. Due to the heterogeneity of disease presentation and progression, generic patient-reported outcome (PRO)
Externí odkaz:
https://doaj.org/article/4210a76ed42d4506993ea3ff869e78ae
Autor:
Aline Papaxanthos-Roche, Aline Maillard, Lucie Chansel-Debordeaux, Martine Albert, Catherine Patrat, Olivier Lidove, Dominique P. Germain, Paul Perez, Didier Lacombe
Publikováno v:
Basic and Clinical Andrology, Vol 29, Iss 1, Pp 1-9 (2019)
Resume Contexte La maladie de Fabry (FD) est. une maladie rare de transmission génétique liée au chromosome X due à un déficit en α-galactosidase A (α-GAL A) lysosomale. Ce déficit enzymatique entraîne l’accumulation de globotriaosylcéram
Externí odkaz:
https://doaj.org/article/da626840b1334399ae3bd9aa90723a3d
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