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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Quality of life in people with syndromic heritable thoracic aortic disease and their relatives: a qualitative interview based study by Gry Velvin, Heidi Johansen, Gunnbjørg Aune, Kerstin Fugl-Meyer, Amy Østertun Geirdal

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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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Enhancing newborn screening sensitivity and specificity for missed NICCD using selected amino acids and acylcarnitines by Peiyao Wang, Lingwei Hu, Yuhe Chen, Duo Zhou, Shasha Zhu, Ting Zhang, Ziyan Cen, Qimin He, Benqing Wu, Xinwen Huang

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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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Clinical management of female patients with Fabry disease based on expert consensus by Eva Brand, Aleš Linhart, Patrick Deegan, Ruxandra Jurcut, Antonio Pisani, Roser Torra, Ulla Feldt-Rasmussen

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Alström syndrome: the journey to diagnosis by Akshat Sinha, Kerry Leeson-Beevers, Catherine Lewis, Elizabeth Loughery, Tarekegn Geberhiwot

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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 novel homozygous intronic variant in CDT1 that alters splicing causes Meier–Gorlin syndrome, and a review of published mutations and growth hormone treatments by Qing Li, Yichi Wu, Fucheng Meng, Zhuxi Li, Di Zhan, Xiaoping Luo

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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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Long-term neuropsychologic outcome of pre-emptive mTOR inhibitor treatment in children with tuberous sclerosis complex (TSC) under 4 months of age (PROTECT), a two-arm, randomized,... by Jan H. Driedger, Julian Schröter, PROTECT-Study Group, Steffen Syrbe, Afshin Saffari

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Establishment and evaluation of a method for measuring ornithine transcarbamylase activity in micro blood of neonates by Zhilei Zhang, Xin Wang, Jingjing Zhang, Xianwei Guan, Yanyun Wang, Dongyang Hong, Yahong Li, Peiying Yang, Yun Sun, Tao Jiang

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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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