Zobrazeno 1 - 10
of 254
pro vyhledávání: '"Dominique P. Germain"'
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:
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:
Sergey Moiseev, Ekaterina Tao, Alexey Moiseev, Nikolay Bulanov, Ekaterina Filatova, Victor Fomin, Dominique P. Germain
Publikováno v:
Genes, Vol 13, Iss 9, p 1619 (2022)
Background: Fabry disease (FD, OMIM #301500) is a rare, progressive, X-linked, inherited genetic disease caused by a functional deficiency of lysosomal α-galactosidase, leading to the accumulation of glycosphingolipids in virtually all of the body
Externí odkaz:
https://doaj.org/article/89b371f96043450f991479bd8dfa73b3
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:
Francesca Cainelli, Dias Argandykov, Dauren Kaldarbekov, Murat Mukarov, Liên Tran Thi Phuong, Dominique P. Germain
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Background: Fabry disease (FD, OMIM #301500) is a rare, progressive, X-linked inherited, genetic disease due to the functional deficiency of lysosomal α-galactosidase (α-GAL) that leads to the accumulation of glycosphingolipids (mainly globotriaosy
Externí odkaz:
https://doaj.org/article/ca68da85567b44a283f13c3d525d829e
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:
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