Amelogenesis imperfecta: Next-generation sequencing sheds light on Witkop’s classification

Autor: Agnes Bloch-Zupan, Tristan Rey, Alexandra Jimenez-Armijo, Marzena Kawczynski, Naji Kharouf, O-Rare consortium, Muriel de La Dure-Molla, Emmanuelle Noirrit, Magali Hernandez, Clara Joseph-Beaudin, Serena Lopez, Corinne Tardieu, Béatrice Thivichon-Prince, ERN Cranio Consortium, Tatjana Dostalova, Milan Macek, International Consortium, Mustapha El Alloussi, Leila Qebibo, Supawich Morkmued, Patimaporn Pungchanchaikul, Blanca Urzúa Orellana, Marie-Cécile Manière, Bénédicte Gérard, Isaac Maximiliano Bugueno, Virginie Laugel-Haushalter, Yves Alembik, Victorin Ahossi, Isabelle Bailleul-Forestier, Isabelle Blanchet, Ariane Berdal, Marie José Boileau, Nicolas Chassaing, François Clauss, Caroline Delfosse, Anne De-Saint-Martin, Jean-Christophe Dahlet, Bérénice Doray, Jean-Luc Davideau, Tiphaine Davit-Béal, Hélène Dollfus, Jean-Pierre Duprez, Muriel de La Dure Molla, Klauss Dieterich, Dominique Droz, Salima El Chehadeh, Olivier Etienne, Edouard Euvrard, Laurence Faivre, Benjamin Fournier, Elsa Garot, Bruno Grollemund, Nathalie Guffon-Fouilhoux, Mathilde Huckert, Bertand Isidor, Sophie Jung, Didier Lacombe, Alinoe Lavillaurex, Marine Lebrun, Bruno Leheup, Adeline Loing, Sandrine Marlin, Jean-Jacques Morrier, Michèle Muller-Bolla, Sylvie Odent, Marie Paule Gelle, Juliette Piard, Linda Pons, Béatrice Richard, Massimiliano Rossi, Prune Sadones, Elise Schaefer, Jean-Louis Sixou, Sylvie Soskin, Marion Strub, Annick Toutain, Alain Verloes, Frédéric Vaysse, Delphine Wagner

Publikováno v: Frontiers in Physiology, Vol 14 (2023)

Amelogenesis imperfecta (AI) is a heterogeneous group of genetic rare diseases disrupting enamel development (Smith et al., Front Physiol, 2017a, 8, 333). The clinical enamel phenotypes can be described as hypoplastic, hypomineralized or hypomature a

Externí odkaz: https://doaj.org/article/be19745ebc994351a79834498f898534

The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II).

Autor: Parenti, Giancarlo^1,2,3,4 (AUTHOR) parenti@unina.it, Fecarotta, Simona^1,3,4 (AUTHOR), Alagia, Marianna^1,3,4 (AUTHOR), Attaianese, Federica^1,3 (AUTHOR), Verde, Alessandra^1,3,4 (AUTHOR), Tarallo, Antonietta^1,2,3 (AUTHOR), Gragnaniello, Vincenza^1,3 (AUTHOR), Ziagaki, Athanasia^1,5 (AUTHOR), Guimaraes, Maria Jose'^1,6 (AUTHOR), Aguiar, Patricio^1,7 (AUTHOR), Hahn, Andreas^1,8 (AUTHOR), Azevedo, Olga^1,9,10,11 (AUTHOR), Donati, Maria Alice^1,12 (AUTHOR), Kiec-Wilk, Beata^1,13,14 (AUTHOR), Scarpa, Maurizio^1,15 (AUTHOR), van der Beek, Nadine A. M. E.^1,16 (AUTHOR), Del Toro Riera, Mireja^1,17 (AUTHOR), Germain, Dominique P.^1,18 (AUTHOR), Huidekoper, Hidde^1,19 (AUTHOR), van den Hout, Johanna M. P.^1,19 (AUTHOR)

Publikováno v: Orphanet Journal of Rare Diseases. 11/1/2024, Vol. 19 Issue 1, p1-23. 23p.

Amelogenesis imperfecta: Next-generation sequencing sheds light on Witkop's classification.

Autor: Bloch-Zupan, Agnes, Rey, Tristan, Jimenez-Armijo, Alexandra, Kawczynski, Marzena, Kharouf, Naji, de La Dure-Molla, Muriel, Noirrit, Emmanuelle, Hernandez, Magali, Joseph-Beaudin, Clara, Lopez, Serena, Tardieu, Corinne, Thivichon-Prince, Béatrice, Dostalova, Tatjana, Macek Jr, Milan, El Alloussi, Mustapha, Qebibo, Leila, Morkmued, Supawich, Pungchanchaikul, Patimaporn, Orellana, Blanca Urzúa, Manière, Marie-Cécile

Publikováno v: Frontiers in Physiology; 2023, p1-40, 40p

Diagnosis, quality of life, and treatment of patients with Hunter syndrome in the French healthcare system: a retrospective observational study.

Autor: Guffon, Nathalie¹ nathalie.guffon-fouilhoux@chu-lyon.fr, Heron, Bénédicte², Chabrol, Brigitte³, Feillet, François⁴, Montauban, Vincent^5,6, Valayannopoulos, Vassili⁷

Publikováno v: Orphanet Journal of Rare Diseases. Apr2015, Vol. 10 Issue 1, p1-13. 13p.