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COVID answers in Scientific Journals all over the world


54 Results       Page 1

 [1] 
Springer (Biomed Central Ltd.): Orphanet Journal of Rare Diseases
  original article Date Title Authors   All Authors
1 [GO] 2026―Feb―14 Impact of COVID-19 infection in patients with inherited metabolic diseases: a National Multicenter Study from the French IMDs Healthcare Network for Rare Diseases Claire Douillard, Aurélia Poujois, Nadia Belmatoug, Olivier Lidove, Vanessa Leguy-Seguin, Wladimir Mauhin, et al. (+19)
2 [GO] 2026―Jan―27 Levels and correlates of pandemic anxiety in people living with rare diseases: a cross-sectional analysis using a structural equation model Hermann Siebel, David Zybarth, Laura Inhestern
3 [GO] 2025―Nov―12 Exploring medication adherence in Behçet’s disease following COVID-19: a mixed-methods study Emily Arden-Close, Fay Sweeting, Danielle Guy, Claudia Mallia, Ala Yankouskaya
4 [GO] 2025―Sep―24 The impact of the COVID-19 pandemic on incidence and clinical presentation of thrombotic microangiopathies: data from a laboratory centralizing ADAMTS-13 testing in Q Clémence Merlen, Sandrine Thouzeau-Benghezal, Emmanuelle Pépin, Samuel Guay, Anne-Laure Lapeyraque, Alexandra Cambier, et al. (+3)
5 [GO] 2025―Aug―03 Correlational study between SARS-CoV-2 infection and incidence of situs inversus in China Zhenglong Guo, Ruili Wang, Wenke Yang, Xin Chen, Bingtao Hao, Shixiu Liao
6 [GO] 2025―Jul―16 The effect of the COVID-19 pandemic on epistaxis and anaemia in patients with hereditary haemorrhagic telangiectasia (HHT) in central South Africa Stephanie Juané Kennedy, Leriska Haupt, Riaz Yakoob Seedat
7 [GO] 2025―Mar―20 Trajectories of depression and anxiety in adults with rare disorders across 13 months during the COVID-19 pandemic Øyvind Halsøy, Stian Orm, Hugo Cogo-Moreira, Wendy K. Silverman, Krister Fjermestad
8 [GO] 2025―Mar―01 Health outcomes following COVID-19 infection and vaccination in hereditary hemorrhagic telangiectasia Christopher M. Tarulli, Xiayi Ma, Kamalprit Chokar, Nicholas T. Vozoris, Marianne S. Clancy, Marie E. Faughnan
9 [GO] 2024―Dec―20 Review of a specialist Rett syndrome clinic from 2003 to the COVID pandemic: clinic experience and carer perspectives Emily Sloper, Megan Hunt, Angus John Clarke
10 [GO] 2024―Dec―13 Retrospective longitudinal study on the long-term impact of COVID-19 infection on polysomnographic evaluation in patients with Prader-Willi syndrome Sina Braun, Constanze Laemmer, Sandra Schulte, Bettina Gohlke
11 [GO] 2024―Sep―27 COVID-19 risk factors and outcomes in individuals with stiff person syndrome spectrum disorders before and after omicron Hanyeh Afshar, Alexandra Simpson, Elena Taylor, Ashley Miles, Herbert R. Chen, Scott D. Newsome
12 [GO] 2024―Sep―02 Impact of the COVID-19 pandemic on the quality of care for juvenile idiopathic arthritis patients: insights from Thailand Rattakorn Pinpattanapong, Maynart Sukharomana, Sirirat Charuvanij
13 [GO] 2024―Jul―03 Safety and efficacy of COVID-19 vaccination in the Chinese population with pulmonary lymphangioleiomyomatosis: a single-center retrospective study Weilin Wang, Jingdong Zhou, Xuetao Kong, Yixuan Wang, Qixian Wu, Xiaoqing Gong, et al. (+6)
14 [GO] 2024―Feb―21 The COVID-19 pandemic impact on continuity of care provision on rare brain diseases and on ataxias, dystonia and PKU. A scoping review Sara Cannizzo, Vinciane Quoidbach, Paola Giunti, Wolfgang Oertel, Gregory Pastores, Maja Relja, Giuseppe Turchetti
15 [GO] 2024―Jan―30 A shock to the (health) system: experiences of adults with rare disorders during the first COVID-19 wave Kathleen R. Bogart, Annelise Hartinger, Maggie Klaus, Elizabeth Jenkinson
16 [GO] 2023―Nov―11 Effects of COVID-19 infection in patients with autoimmune pulmonary alveolar proteinosis: a single-center study Chuanxin Duan, Wangji Zhou, Miaoyan Zhang, Chongsheng Cheng, Wenshuai Xu, Jinrong Dai, et al. (+8)
17 [GO] 2023―Oct―27 Safety outcomes and patients’ preferences for home-based intravenous enzyme replacement therapy (ERT) in pompe disease and mucopolysaccharidosis type I (MPS I) disorder: COVID-19 and beyond Antonio Toscano, Olimpia Musumeci, Michele Sacchini, Sabrina Ravaglia, Gabriele Siciliano, Agata Fiumara, et al. (+13)
18 [GO] 2023―Sep―12 Symptoms of SARS-CoV-2 infection and vaccine status of sixty-seven adult patients affected by inherited metabolic diseases: a phone survey Lucia Brodosi, Michele Stecchi, Dorina Mita, Francesca Marchignoli, Valeria Guarneri, Giulio Agnelli, et al. (+5)
19 [GO] 2023―Jun―21 Impact of the COVID-19 pandemic on health care and daily life of patients with rare diseases from the perspective of patient organizations - a qualitative interview study David Zybarth, Maja Brandt, Christine Mundlos, Laura Inhestern
20 [GO] 2023―Mar―20 A follow-up report on the published paper Social and clinical impact of COVID-19 on patients with fibrodysplasia ossificans progressiva Hayley Wallace, Rhonda H. Lee, Edward C. Hsiao
21 [GO] 2023―Mar―10 Increased incidence of adult-onset Still’s disease in association with COVID-19 vaccination and SARS-CoV-2 infection Maxime N. Gottschalk, Max Heiland, Susanne Nahles, Robert Preissner, William A. Petri, Stephanie Wendy, Saskia Preissner
22 [GO] 2022―Dec―26 The psychosocial situation of families caring for children with rare diseases during the COVID-19 pandemic: results of a cross-sectional online survey Lydia Rihm, Mareike Dreier, Farhad Rezvani, Silke Wiegand-Grefe, Jörg Dirmaier
23 [GO] 2022―Dec―09 Impact of the COVID-19 pandemic on the care of rare and undiagnosed diseases patients in France: a longitudinal population-based study Louis Soussand, Mathieu Kuchenbuch, Claude Messiaen, Arnaud Sandrin, Anne-Sophie Jannot, Rima Nabbout
24 [GO] 2022―Sep―05 The impact of the COVID-19 pandemic on Fabry Disease Patients: an examination of Mood Status, Therapy Adherence, and COVID-19 infection Cebrail Karaca, Mevlut Tamer Dincer, Seyda Gul Ozcan, Betul Sarac, Saffa Ahmadzada, Selma Alagoz, et al. (+4)
25 [GO] 2022―Jun―28 COVID-19 in Fabry disease: a reference center prospective study Christina Bothou, Lanja Saleh, Arnold von Eckardstein, Felix Beuschlein, Albina Nowak
26 [GO] 2022―Apr―12 Increased COVID-19 mortality rate in rare disease patients: a retrospective cohort study in participants of the Genomics England 100,000 Genomes project Huayu Zhang, Johan H. Thygesen, Ting Shi, Georgios V. Gkoutos, Harry Hemingway, Bruce Guthrie, Honghan Wu
27 [GO] 2022―Mar―04 Social and clinical impact of COVID-19 on patients with fibrodysplasia ossificans progressiva Samuel Kou, Sammi Kile, Sai Samhith Kambampati, Evelyn C. Brady, Hayley Wallace, Carlos M. De Sousa, et al. (+4)
28 [GO] 2022―Mar―04 One year of COVID-19: infection rates and symptoms in patients with inherited metabolic diseases followed by MetabERN Laura Paneghetti, Cinzia Maria Bellettato, Annalisa Sechi, Karolina M. Stepien, Maurizio Scarpa
29 [GO] 2022―Mar―04 Mild disease course of SARS-CoV-2 infections and mild side effects of vaccination in Pompe disease: a cohort description G. Ismailova, M. J. Mackenbach, J. M. P. van den Hout, A. T. van der Ploeg, E. Brusse, M. A. E. M. Wagenmakers
30 [GO] 2022―Feb―21 The presentation, course and outcome of COVID-19 infection in people with Prader-Willi syndrome: unexpected findings from an international survey J. E. Whittington, A. J. Holland, D. J. Driscoll, N. Hodebeck-Stuntebeck, A. Hoctor
31 [GO] 2022―Jan―19 Impact of the COVID-19 pandemic on access to the cerliponase alfa managed access agreement in England for CLN2 treatment Amanda Mortensen, Eva M. Raebel, Samantha Wiseman
32 [GO] 2022―Jan―04 A post pandemic roadmap toward remote assessment for neuromuscular disorders: limitations and opportunities Jacqueline Montes, Katy J. Eichinger, Amy Pasternak, Cara Yochai, Kristin J. Krosschell
33 [GO] 2021―Nov―27 Quality of life and mental health of children with rare congenital surgical diseases and their parents during the COVID-19 pandemic Mareike Fuerboeter, Johannes Boettcher, Claus Barkmann, Holger Zapf, Rojin Nazarian, Silke Wiegand-Grefe, et al. (+2)
34 [GO] 2021―Oct―26 A multicenter cross-sectional French study of the impact of COVID-19 on neuromuscular diseases Lucie Isoline Pisella, Sara Fernandes, Guilhem Solé, Tanya Stojkovic, Céline Tard, Jean-Baptiste Chanson, et al. (+39)
35 [GO] 2021―Sep―08 Characterization of epidemiological distribution and outcome of COVID-19 in patients with hereditary hemorrhagic telangiectasia: a nationwide retrospective multi-centre study during first wave in Italy Patrizia Suppressa, Fabio Pagella, Gennaro Mariano Lenato, Eleonora Gaetani, Ilaria Serio, Maristella Salvatora Masala, et al. (+8)
36 [GO] 2021―Sep―08 The effects of the COVID-19 pandemic on patients with lysosomal storage disorders in Israel Eyal Kristal, Ben Pode-Shakked, Guy Hazan, Ehud Banne, Galina Ling, Odeya David, et al. (+9)
37 [GO] 2021―Sep―03 Increased risk of chronic fatigue and hair loss following COVID-19 in individuals with hypohidrotic ectodermal dysplasia Verena Hennig, Wolfgang Schuh, Antje Neubert, Dirk Mielenz, Hans-Martin Jäck, Holm Schneider
38 [GO] 2021―Aug―19 A retrospective study on disease management in children and adolescents with phenylketonuria during the Covid-19 pandemic lockdown in Austria Marion Herle, Michaela Brunner-Krainz, Daniela Karall, Bernadette Goeschl, Dorothea Möslinger, Joachim Zobel, et al. (+5)
39 [GO] 2021―Aug―12 Hospital mortality in patients with rare diseases during pandemics: lessons learnt from the COVID-19 and SARS pandemics Claudia Ching Yan Chung, Wilfred Hing Sang Wong, Brian Hon Yin Chung
40 [GO] 2021―Jul―21 Paradoxical low severity of COVID-19 in Prader-Willi syndrome: data from a French survey on 647 patients Muriel Coupaye, Virginie Laurier, Grégoire Benvegnu, Christine Poitou, Pauline Faucher, Héléna Mosbah, et al. (+8)
41 [GO] 2021―Jul―16 Gene therapies and COVID-19 vaccines: a necessary discussion in relation with viral vector-based approaches Angel Aledo-Serrano, Antonio Gil-Nagel, Julian Isla, Ana Mingorance, Fernando Mendez-Hermida, Ruben Hernandez-Alcoceba
42 [GO] 2021―May―06 ATTR amyloidosis during the COVID-19 pandemic: insights from a global medical roundtable Thomas H. Brannagan, Michaela Auer-Grumbach, John L. Berk, Chiara Briani, Vera Bril, Teresa Coelho, et al. (+21)
43 [GO] 2021―May―05 Effects of the COVID-19 pandemic and lockdown on the mental and physical health of adults with Prader-Willi syndrome Helena Mosbah, Muriel Coupaye, Flavien Jacques, Maithé Tauber, Karine Clément, Jean-Michel Oppert, Christine Poitou
44 [GO] 2021―May―03 PH CARE COVID survey: an international patient survey on the care for pulmonary hypertension patients during the early phase of the COVID-19 pandemic Laurent Godinas, Keerthana Iyer, Gergely Meszaros, Rozenn Quarck, Pilar Escribano-Subias, Anton Vonk Noordegraaf, et al. (+11)
45 [GO] 2021―Mar―05 A thematic study: impact of COVID-19 pandemic on rare disease organisations and patients across ten jurisdictions in the Asia Pacific region Claudia Ching Yan Chung, Yvette Nga Chung Ng, Ritu Jain, Brian Hon Yin Chung
46 [GO] 2021―Mar―01 A comprehensive review of hydroxyurea for β-haemoglobinopathies: the role revisited during COVID-19 pandemic Nirmani Yasara, Anuja Premawardhena, Sachith Mettananda
47 [GO] 2021―Feb―26 Unmasked: an insight into three patients’ rare disease experiences during the COVID-19 pandemic Catriona Chaplin
48 [GO] 2021―Feb―01 The impact of the COVID-19 pandemic on neurofibromatosis clinical care and research Heather B. Radtke, Bonita P. Klein-Tasman, Vanessa L. Merker, Pamela Knight, Nicole J. Ullrich, Justin T. Jordan, et al. (+2)
49 [GO] 2020―Dec―18 Diagnostic testing for SARS-CoV-2 infection in HHT patients: nasopharyngeal versus oropharyngeal swab Fabio Pagella, Roberta Lizzio, Sara Ugolini, Giuseppe Spinozzi, Eugenia Maiorano, Patrizia Suppressa, et al. (+2)
50 [GO] 2020―Dec―03 The impact of COVID-19 on rare metabolic patients and healthcare providers: results from two MetabERN surveys C. Lampe, C. Dionisi-Vici, C. M. Bellettato, L. Paneghetti, C. van Lingen, S. Bond, et al. (+6)
51 [GO] 2020―Oct―28 SARS-CoV-2 infection in a patient with propionic acidemia Anna Caciotti, Elena Procopio, Francesca Pochiero, Silvia Falliano, Giuseppe Indolfi, Maria Alice Donati, et al. (+3)
52 [GO] 2020―Sep―25 The forgotten people with thalassemia in the time of COVID-19: South Asian perspective Mohammad Sorowar Hossain, Enayetur Raheem, Mahbubul H. Siddiqee
53 [GO] 2020―Aug―31 Providing high-quality care remotely to patients with rare bone diseases during COVID-19 pandemic E. Brizola, G. Adami, G. I. Baroncelli, M. F. Bedeschi, P. Berardi, S. Boero, et al. (+19)
54 [GO] 2020―Jun―22 COVID-19 pandemia and inherited cardiomyopathies and channelopathies: a short term and long term perspective Giuseppe Limongelli, Lia Crotti
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54 Results       Page 1


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