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

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

Erratum to: Methods for evaluating medical tests and biomarkers

Autor: Gowri Gopalakrishna, Miranda Langendam, Rob Scholten, Patrick Bossuyt, Mariska Leeflang, Anna Noel-Storr, James Thomas, Iain Marshall, Byron Wallace, Penny Whiting, Clare Davenport, Gowri GopalaKrishna, Isabel de Salis, Sue Mallett, Robert Wolff, Richard Riley, Marie Westwood, Jos Kleinen, Gary Collins, Hans Reitsma, Karel Moons, Antonia Zapf, Annika Hoyer, Katharina Kramer, Oliver Kuss, J. Ensor, J. J. Deeks, E. C. Martin, R. D. Riley, Gerta Rücker, Susanne Steinhauser, Martin Schumacher, Joie Ensor, Kym Snell, Brian Willis, Thomas Debray, Jon Deeks, Lavinia Ferrante di Ruffano, Sian Taylor-Phillips, Chris Hyde, Stuart A. Taylor, Gauraang Batnagar, STREAMLINE COLON Investigators, STREAMLINE LUNG Investigators, METRIC Investigators, Lavinia Ferrante Di Ruffano, Farah Seedat, Aileen Clarke, Sarah Byron, Frances Nixon, Rebecca Albrow, Thomas Walker, Carla Deakin, Zhivko Zhelev, Harriet Hunt, Yaling Yang, Lucy Abel, James Buchanan, Thomas Fanshawe, Bethany Shinkins, Laure Wynants, Jan Verbakel, Sabine Van Huffel, Dirk Timmerman, Ben Van Calster, Aeliko Zwinderman, Jason Oke, Jack O’Sullivan, Rafael Perera, Brian Nicholson, Hannah L. Bromley, Tracy E. Roberts, Adele Francis, Denniis Petrie, G. Bruce Mann, Kinga Malottki, Holly Smith, Lucinda Billingham, Alice Sitch, Oke Gerke, Mie Holm-Vilstrup, Eivind Antonsen Segtnan, Ulrich Halekoh, Poul Flemming Høilund-Carlsen, Bernard G. Francq, Jac Dinnes, Julie Parkes, Walter Gregory, Jenny Hewison, Doug Altman, William Rosenberg, Peter Selby, Julien Asselineau, Paul Perez, Aïssatou Paye, Emilie Bessede, Cécile Proust-Lima, Christiana Naaktgeboren, Joris de Groot, Anne Rutjes, Johannes Reitsma, Emmanuel Ogundimu, Jonathan Cook, Yannick Le Manach, Yvonne Vergouwe, Romin Pajouheshnia, Rolf Groenwold, Karen Moons, Linda Peelen, Daan Nieboer, Bavo De Cock, Micael J. Pencina, Ewout W. Steyerberg, Jennifer Cooper, Nick Parsons, Chris Stinton, Steve Smith, Andy Dickens, Rachel Jordan, Alexandra Enocson, David Fitzmaurice, Peymane Adab, Charles Boachie, Gaj Vidmar, Karoline Freeman, Martin Connock, Rachel Court, Carl Moons, Jessica Harris, Andrew Mumford, Zoe Plummer, Kurtis Lee, Barnaby Reeves, Chris Rogers, Veerle Verheyden, Gianni D. Angelini, Gavin J. Murphy, Jeremy Huddy, Melody Ni, Katherine Good, Graham Cooke, George Hanna, Jie Ma, K. G. M. (Carl) Moons, Joris A. H. de Groot, Doug G. Altman, Johannes B. Reitsma, Gary S. Collins, Karel G. M. Moons, Douglas G. Altman, Adina Najwa Kamarudin, Ruwanthi Kolamunnage-Dona, Trevor Cox, Simone Borsci, Teresa Pérez, M.Carmen Pardo, Angel Candela-Toha, Alfonso Muriel, Javier Zamora, Sabina Sanghera, Syed Mohiuddin, Richard Martin, Jenny Donovan, Joanna Coast, Mikyung Kelly Seo, John Cairns, Elizabeth Mitchell, Alison Smith, Judy Wright, Peter Hall, Michael Messenger, Nicola Calder, Nyantara Wickramasekera, Karen Vinall-Collier, Andrew Lewington, Johanna Damen, David Cairns, Michelle Hutchinson, Cathie Sturgeon, Liz Mitchel, Rebecca Kift, Sofia Christakoudi, Manohursingh Rungall, Paula Mobillo, Rosa Montero, Tjir-Li Tsui, Sui Phin Kon, Beatriz Tucker, Steven Sacks, Chris Farmer, Terry Strom, Paramit Chowdhury, Irene Rebollo-Mesa, Maria Hernandez-Fuentes, Johanna A. A. G. Damen, Thomas P. A. Debray, Pauline Heus, Lotty Hooft, Rob J. P. M. Scholten, Ewoud Schuit, Ioanna Tzoulaki, Camille M. Lassale, George C. M. Siontis, Virginia Chiocchia, Corran Roberts, Michael Maia Schlüssel, Stephen Gerry, James A. Black, Yvonne T. van der Schouw, Linda M. Peelen, Graeme Spence, David McCartney, Ann van den Bruel, Daniel Lasserson, Gail Hayward, Werner Vach, Antoinette de Jong, Coreline Burggraaff, Otto Hoekstra, Josée Zijlstra, Henrica de Vet, Sara Graziadio, Joy Allen, Louise Johnston, Rachel O’Leary, Michael Power, Louise Johnson, Ray Waters, John Simpson, Thomas R. Fanshawe, Peter Phillips, Andrew Plumb, Emma Helbren, Steve Halligan, Alastair Gale, Peggy Sekula, Willi Sauerbrei, Julia R. Forman, Susan J. Dutton, Yemisi Takwoingi, Elizabeth M. Hensor, Thomas E. Nichols, Emmanuelle Kempf, Raphael Porcher, Jennifer de Beyer, Douglas Altman, Sally Hopewell, John Dennis, Beverley Shields, Angus Jones, William Henley, Ewan Pearson, Andrew Hattersley, on behalf of the MASTERMIND consortium, Fueloep Scheibler, Anne Rummer, Sibylle Sturtz, Robert Großelfinger, Katie Banister, Craig Ramsay, Augusto Azuara-Blanco, Jennifer Burr, Manjula Kumarasamy, Rupert Bourne, Ijeoma Uchegbu, Jennifer Murphy, Alex Carter, Jen Murphy, Joachim Marti, Julie Eatock, Julie Robotham, Maria Dudareva, Mark Gilchrist, Alison Holmes, Phillip Monaghan, Sarah Lord, Andrew StJohn, Sverre Sandberg, Christa Cobbaert, Lieselotte Lennartz, Wilma Verhagen-Kamerbeek, Christoph Ebert, Andrea Horvath, for the Test Evaluation Working Group of the European Federation of Clinical Chemistry and Laboratory Medicine, Kevin Jenniskens, Jaime Peters, Bogdan Grigore, Obi Ukoumunne, Brooke Levis, Andrea Benedetti, Alexander W. Levis, John P. A. Ioannidis, Ian Shrier, Pim Cuijpers, Simon Gilbody, Lorie A. Kloda, Dean McMillan, Scott B Patten, Russell J. Steele, Roy C Ziegelstein, Charles H. Bombardier, Flavia de Lima Osório, Jesse R. Fann, Dwenda Gjerdingen, Femke Lamers, Manote Lotrakul, Sonia R Loureiro, Bernd Löwe, Juwita Shaaban, Lesley Stafford, Henk C. P. M. van Weert, Mary A. Whooley, Linda S. Williams, Karin A. Wittkampf, Albert S. Yeung, Brett D. Thombs, Chris Cooper, Tom Nieto, Claire Smith, Olga Tucker, Janine Dretzke, Andrew Beggs, Nirmala Rai, Sue Bayliss, Simon Stevens, Sue Mallet, Sudha Sundar, Emma Hall, Nuria Porta, David Lorente Estelles, Johann de Bono, on behalf of the CTC-STOP protocol development group

Publikováno v: Diagnostic and Prognostic Research, Vol 1, Iss 1, Pp 1-5 (2017)

Externí odkaz: https://doaj.org/article/6e4d4aeef31d4a4ab5f1974912d6fe8c

Multiple system atrophy: A prototypical synucleinopathy for disease-modifying therapeutic strategies

Autor: Pierre-Olivier Fernagut, Benjamin Dehay, Aline Maillard, Erwan Bezard, Paul Perez, Anne Pavy-Le Traon, Olivier Rascol, Alexandra Foubert-Samier, François Tison, Wassilios G. Meissner

Publikováno v: Neurobiology of Disease, Vol 67, Iss , Pp 133-139 (2014)

Despite active fundamental, translational and clinical research, no therapeutic intervention has yet shown convincing effects on disease progression in Parkinson's disease (PD) patients. Indeed, several disease-modification trials failed or proved to

Externí odkaz: https://doaj.org/article/11f902b402a04311ad353c931bb0005a

Traffic-Related Air Pollution and Perinatal Mortality: A Case: Control Study

Autor: de Medeiros, Andréa Paula Peneluppi, Gouveia, Nelson, Machado, Reinaldo Paul Pérez, de Souza, Miriam Regina, Alencar, Gizelton Pereira, Novaes, Hillegonda Maria Dutilh, de Almeida, Márcia Furquim

Publikováno v: Environmental Health Perspectives, 2009 Jan 01. 117(1), 127-132.

Externí odkaz: https://www.jstor.org/stable/40066688

Cystic fibrosis and noninvasive liver fibrosis assessment methods in children

Autor: Raphael Enaud, Thierry Lamireau, Stéphanie Bui, Victor de Ledinghen, M. Fayon, Eric Frison, Aude Fischer, Paul Perez, Sophie Missonnier, Jean-François Chateil

Publikováno v: Pediatric Research
Pediatric Research, Nature Publishing Group, 2021, ⟨10.1038/s41390-021-01427-4⟩

Background Noninvasive assessments of liver fibrosis are currently used to evaluate cystic fibrosis (CF)-related liver disease. However, there is scarce data regarding their repeatability and reproducibility, especially in children with CF. The prese

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca23014e73ed1f1352638cb73eb40953
http://hdl.handle.net/20.500.12278/112574