Pseudoxanthoma elasticum

by Dominique P. Germain
Published 2017-05-01

Case Report: First Two Identified Cases of Fabry Disease in Central Asia

by Francesca Cainelli, Francesca Cainelli, Dias Argandykov, Dauren Kaldarbekov, Murat Mukarov, Liên Tran Thi Phuong, Dominique P. Germain, Dominique P. Germain, Dominique P. Germain
Published 2021-04-01

Semen and male genital tract characteristics of patients with Fabry disease: the FERTIFABRY multicentre observational study

by Aline Papaxanthos-Roche, Aline Maillard, Lucie Chansel-Debordeaux, Martine Albert, Catherine Patrat, Olivier Lidove, Dominique P. Germain, Paul Perez, Didier Lacombe
Published 2019-05-01

Fabry disease: Four case reports of meningioma and a review of the literature on other malignancies

by Beth L. Thurberg, MD, PhD, Dominique P. Germain, MD, PhD, Fernando Perretta, MD, Iulia E. Jurca-Simina, MD, Juan M. Politei, MD
Published 2017-06-01

Newborn Screening for Fabry Disease in Northeastern Italy: Results of Five Years of Experience

by Vincenza Gragnaniello, Alessandro P Burlina, Giulia Polo, Antonella Giuliani, Leonardo Salviati, Giovanni Duro, Chiara Cazzorla, Laura Rubert, Evelina Maines, Dominique P Germain, Alberto B Burlina
Published 2021-06-01

LC-MS/MS multiplex analysis of lysosphingolipids in plasma and amniotic fluid: A novel tool for the screening of sphingolipidoses and Niemann-Pick type C disease.

by Magali Pettazzoni, Roseline Froissart, Cécile Pagan, Marie T Vanier, Séverine Ruet, Philippe Latour, Nathalie Guffon, Alain Fouilhoux, Dominique P Germain, Thierry Levade, Christine Vianey-Saban, Monique Piraud, David Cheillan
Published 2017-01-01

Treatment needs and expectations for Fabry disease in France: development of a new Patient Needs Questionnaire

by 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
Published 2019-12-01

Improvement of gastrointestinal symptoms in a significant proportion of male patients with classic Fabry disease treated with agalsidase beta: A Fabry Registry analysis stratified...

by 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
Published 2020-12-01

Cardiomyopathy and kidney function in agalsidase beta‐treated female Fabry patients: a pre‐treatment vs. post‐treatment analysis

by 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
Published 2020-06-01

The effect of enzyme replacement therapy on clinical outcomes in male patients with Fabry disease: A systematic literature review by a European panel of experts

by Dominique P. Germain, Perry M. Elliott, Bruno Falissard, Victor V. Fomin, Max J. Hilz, Ana Jovanovic, Ilkka Kantola, Aleš Linhart, Renzo Mignani, Mehdi Namdar, Albina Nowak, João-Paulo Oliveira, Maurizio Pieroni, Miguel Viana-Baptista, Christoph Wanner, Marco Spada
Published 2019-06-01

Migalastat HCl reduces globotriaosylsphingosine (lyso-Gb3) in Fabry transgenic mice and in the plasma of Fabry patients.

by Brandy Young-Gqamana, Nastry Brignol, Hui-Hwa Chang, Richie Khanna, Rebecca Soska, Maria Fuller, Sheela A Sitaraman, Dominique P Germain, Roberto Giugliani, Derralynn A Hughes, Atul Mehta, Kathy Nicholls, Pol Boudes, David J Lockhart, Kenneth J Valenzano, Elfrida R Benjamin
Published 2013-01-01

The benefits and challenges of family genetic testing in rare genetic diseases—lessons from Fabry disease

by 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
Published 2021-05-01