Combined biochemical profiling and DNA sequencing in the expanded newborn screening for inherited metabolic diseases: the experience in an Italian reference center by Simona Fecarotta, Lorenzo Vaccaro, Alessandra Verde, Marianna Alagia, Alessandro Rossi, Chiara Colantuono, Maria Teresa Cacciapuoti, Patrizia Annunziata, Sara Riccardo, Antonio Grimaldi, Tonya Fusco, Rosa De Santis, Fernando Barretta, Lucia Albano, Daniela Crisci, Fabiana Vallone, Antonietta Tarallo, Marcella Cesana, Nicola Brunetti-Pierri, Giulia Frisso, Margherita Ruoppolo, Davide Cacchiarelli, Giancarlo Parenti

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Caregiver’s experiences with a mobile-based educational program and its impact on dietary treatment compliance of children with methylmalonic acidemia: an online survey by Qing Luo, Chunqin Liu, Lizhou Lin, Xuehua Liu, Huifang Chen

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Peroral Endoscopic myotomy (POEM) in pediatric achalasia: a retrospective cohort on institutional experience and quality of life by Thijs Kuipers, Carlijn Mussies, Aaltje Lei, Gwen M.C. Masclee, Marc A. Benninga, Paul Fockens, Barbara A.J. Bastiaansen, Albert J. Bredenoord, Michiel P. van Wijk

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Identification of strengths and weaknesses of the healthcare system for persons living with rare diseases in Catalonia (Spain), and recommendations to improve its comprehensive att... by José Hernández-Rodríguez, Fernando Martínez-Valle, Xènia Acebes, Carmen Alerany, Jordi Antón, Gonzalo Calvo, Marian Corral, Jordi Cruz, M. Antònia Mangues-Bafalluy, José Mateo, Josefa Rivera, Albert Salazar, Roser Francisco, Cristina Mallol, Rita Reig-Viader, Ariadna Tigri-Santiña, Assumpta Ricart, Francesc Palau

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KaRhab: an international online registry for cardiac rhabdomyomas by Vera-Maria Herrmann, Maria Arelin, Caroline G. Bergner, Julia Herrmann, Paula Janz, Henriette Kiep, Annika Mueller, Steffen Syrbe, Robert Wagner, Bardo Wannenmacher, Nadine Wolf, Michael Weidenbach, Vincent Strehlow

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An assessment of burden associated with problem joints in children and adults with moderate or severe haemophilia A: analysis of the CHESS-Paediatrics and CHESS II cross-sectional... by Paul McLaughlin, Hortensia De la Corte-Rodriguez, Tom Burke, Francis Nissen, Martynas Aizenas, Katya Moreno, Jamie O’Hara

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A missense variant in the SOX5 gene (c.221C > T) is associated with intellectual disability by Xiujuan Yang, Zhongzhi Gan, Xiaoling Guo, Xiang Huang, Juan Liu, Yingchun Zheng, Xiaoqiang Zhou, Jingli Lian, Yue Liu, Tingting Yang, Chao Li, Fenying Chen, Fei He, Xiangmin Xu, Yasi Zhou, Qian Liu, Xingkun Yang, Fu Xiong

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Clinically meaningful improvements after gene therapy for aromatic L-amino acid decarboxylase deficiency (AADCd) in the Peabody Developmental Motor Scale, Second Edition (PDMS-2) a... by Wuh-Liang Hwu, Hui-Min Lee, John Devin Peipert, Rongrong Zhang, Christian Werner, J. Rafael Sierra, Thomas O’Connell, Jonathan J. Woolley, Marjorie Crowell, Antonia Wang, Ioannis Tomazos

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Multidisciplinary, multicenter consensus for the care of patients affected with Sturge–Weber syndrome by May El Hachem, Andrea Diociaiuti, Angela Galeotti, Francesca Grussu, Elena Gusson, Alessandro Ferretti, Carlo Efisio Marras, Davide Vecchio, Simona Cappelletti, Mariasavina Severino, Carlo Gandolfo, Simone Reali, Rosa Longo, Carmen D’Amore, Lodovica Gariazzo, Federica Marraffa, Marta Luisa Ciofi Degli Atti, Maria Margherita Mancardi, and the Sturge-Weber Syndrome Multidisciplinary Group

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