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  1. The Canadian government has committed to developing a national strategy for drugs for rare diseases starting in 2022. Considering this announcement, we conducted a comparative analysis to examine patient acces...

    Authors: Leanne Marie Ward, Alexandra Chambers, Emine Mechichi, Durhane Wong-Rieger and Craig Campbell
    Citation: Orphanet Journal of Rare Diseases 2022 17:113
  2. Mucopolysaccharidoses are a group of lysosomal storage disorders caused by deficiency of enzymes involved in glycosaminoglycans degradation. Relationship between mucopolysaccharidoses and related enzymes has b...

    Authors: Weijing Kong, Cheng Lu, Yingxue Ding and Yan Meng
    Citation: Orphanet Journal of Rare Diseases 2022 17:112
  3. Neurodegeneration with brain iron accumulation describes a group of rare heterogeneous progressive neurodegenerative disorders characterized by excessive iron accumulation in the basal ganglia region. Pantothe...

    Authors: Dahae Yang, Sanghyun Cho, Sung Im Cho, Manjin Kim, Moon-Woo Seong and Sung Sup Park
    Citation: Orphanet Journal of Rare Diseases 2022 17:111
  4. Inherited vitreoretinopathies arise as a consequence of congenital retinal vascularisation abnormalities. They represent a phenotypically and genetically heterogeneous group of disorders that can have a major ...

    Authors: Rachel L. Taylor, Carla Sanjuro Soriano, Simon Williams, Denisa Dzulova, Jane Ashworth, Georgina Hall, Theodora Gale, I. Christopher Lloyd, Chris F. Inglehearn, Carmel Toomes, Sofia Douzgou and Graeme C. Black
    Citation: Orphanet Journal of Rare Diseases 2022 17:110
  5. Rett syndrome is associated with severe functional impairments and many comorbidities, each in urgent need of treatments. Mutations in the MECP2 gene were identified as causing Rett syndrome in 1999. Over the pas...

    Authors: Helen Leonard, Wendy Gold, Rodney Samaco, Mustafa Sahin, Timothy Benke and Jenny Downs
    Citation: Orphanet Journal of Rare Diseases 2022 17:108
  6. COVID-19, caused by the SARS-CoV-2 virus, is a severe inflammatory condition. Patients with pre-existing conditions including diabetes, hypertension, and cardiovascular disease are at particularly high risk of...

    Authors: Samuel Kou, Sammi Kile, Sai Samhith Kambampati, Evelyn C. Brady, Hayley Wallace, Carlos M. De Sousa, Kin Cheung, Lauren Dickey, Kelly L. Wentworth and Edward C. Hsiao
    Citation: Orphanet Journal of Rare Diseases 2022 17:107
  7. Tuberous sclerosis complex (TSC) is an autosomal dominant syndrome that presents with diverse and complex clinical features and involves multiple human systems. TSC-related neurological abnormalities and organ...

    Authors: Cong Luo, Wen-Rui Ye, Wei Shi, Ping Yin, Chen Chen, Yun-Bo He, Min-Feng Chen, Xiong-Bin Zu and Yi Cai
    Citation: Orphanet Journal of Rare Diseases 2022 17:106
  8. Diagnosis of mature-onset diabetes of the young (MODY), a non-autoimmune monogenic form of diabetes mellitus, is confirmed by genetic testing. However, a positive genetic diagnosis is achieved in only around 5...

    Authors: María E. Vázquez-Mosquera, Emiliano González-Vioque, Sofía Barbosa-Gouveia, Diego Bellido-Guerrero, Cristina Tejera-Pérez, Miguel A. Martinez-Olmos, Antía Fernández-Pombo, Luis A. Castaño-González, Roi Chans-Gerpe and María L. Couce
    Citation: Orphanet Journal of Rare Diseases 2022 17:105
  9. Xeroderma pigmentosum (XP) is a rare, autosomal, recessive DNA repair-deficiency disorder with a frequency of 1–3 per million livebirths in Europe and USA but with higher frequencies in isolated islands or in ...

    Authors: Sergey Nikolaev, Andrey A. Yurchenko and Alain Sarasin
    Citation: Orphanet Journal of Rare Diseases 2022 17:104
  10. Individuals with pathogenic variants in SATB2 display intellectual disability, speech and behavioral disorders, dental abnormalities and often features of Pierre Robin sequence. SATB2 encodes a transcription fact...

    Authors: M. Mouillé, M. Rio, S. Breton, M. L. Piketty, A. Afenjar, J. Amiel, Y. Capri, A. Goldenberg, C. Francannet, C. Michot, C. Mignot, L. Perrin, C. Quelin, J. Van Gils, G. Barcia, V. Pingault…
    Citation: Orphanet Journal of Rare Diseases 2022 17:100
  11. Hypophosphatasia (HPP) is a rare and underdiagnosed condition characterized by deficient bone and teeth mineralization. The aim of this study was first, to evaluate the diagnostic utility of employing alkaline...

    Authors: C. Tornero, V. Navarro-Compán, A. Buño, K. E. Heath, M. Díaz-Almirón, A. Balsa, J. A. Tenorio, J. Quer and P. Aguado
    Citation: Orphanet Journal of Rare Diseases 2022 17:98
  12. Stickler syndrome (STL) is a rare, clinically and molecularly heterogeneous connective tissue disorder. Pathogenic variants occurring in a variety of genes cause STL, mainly inherited in an autosomal dominant ...

    Authors: Aboulfazl Rad, Maryam Najafi, Fatemeh Suri, Soheila Abedini, Stephen Loum, Ehsan Ghayoor Karimiani, Narsis Daftarian, David Murphy, Mohammad Doosti, Afrooz Moghaddasi, Hamid Ahmadieh, Hamideh Sabbaghi, Mohsen Rajati, Narges Hashemi, Barbara Vona and Miriam Schmidts
    Citation: Orphanet Journal of Rare Diseases 2022 17:97
  13. Facioscapulohumeral muscular dystrophy (FSHD) is among the most prevalent muscular dystrophies and currently has no treatment. Clinical and genetic heterogeneity are the main challenges to a full comprehension...

    Authors: Benoît Sanson, Caroline Stalens, Céline Guien, Luisa Villa, Catherine Eng, Sitraka Rabarimeriarijaona, Rafaëlle Bernard, Pascal Cintas, Guilhem Solé, Vincent Tiffreau, Andoni Echaniz-Laguna, Armelle Magot, Raul Juntas Morales, François Constant Boyer, Aleksandra Nadaj-Pakleza, Agnès Jacquin-Piques…
    Citation: Orphanet Journal of Rare Diseases 2022 17:96
  14. A congenital melanocytic naevus (CMN) is a rare skin condition that can be associated with abnormalities of the central nervous system (CNS). These anomalies can sometimes cause severe complications, and rarel...

    Authors: Anne C. Fledderus, Anna Linn Widdershoven, Oren Lapid, Corstiaan C. Breugem, Suzanne G. M. A. Pasmans, Chantal M. A. M. van der Horst, Marc M. Engelen and Phyllis I. Spuls
    Citation: Orphanet Journal of Rare Diseases 2022 17:95
  15. Most craniofacial manifestations of neurofibromatosis type 1 (NF1) are considered as a result of tumor compression. We sought to determine salivary changes, caries, and periodontal complications in NF1 patient...

    Authors: Eshwar Thota, John Jims Veeravalli, Sai Krishna Manchala, Bhargavi Priya Lakkepuram, Jayasurya Kodapaneni, Yi-Wen Chen, Li-Tzu Wang and Kevin Sheng-Kai Ma
    Citation: Orphanet Journal of Rare Diseases 2022 17:93
  16. Rosai–Dorfman–Destombes disease (RDD) is a rare histiocytic disorder with heterogeneous clinical manifestations and rare neurologic involvement. The existing clinical literature about neurologic RDD has yet to...

    Authors: Ruham Alshiekh Nasany, Anne S. Reiner, Jasmine H. Francis, Oussama Abla, Katherine S. Panageas and Eli L. Diamond
    Citation: Orphanet Journal of Rare Diseases 2022 17:92
  17. Patients are the most important stakeholders in the care of any disease and have an educational need to learn about their condition and the treatment they should receive. Considering this need for patient-focu...

    Authors: Iain A. Bruce, Fatih S. Ezgü, Christoph Kampmann, Vladimir Kenis, William Mackenzie, Bob Stevens, Robert Walker and Christian Hendriksz
    Citation: Orphanet Journal of Rare Diseases 2022 17:91
  18. This consensus statement by a panel of Fabry experts aimed to identify areas of consensus on conceptual, clinical and therapeutic aspects of Fabry disease (FD) and to provide guidance to healthcare providers o...

    Authors: Fatih Ezgu, Erkan Alpsoy, Zerrin Bicik Bahcebasi, Ozgur Kasapcopur, Melis Palamar, Huseyin Onay, Binnaz Handan Ozdemir, Mehmet Akif Topcuoglu and Omac Tufekcioglu
    Citation: Orphanet Journal of Rare Diseases 2022 17:90
  19. Since it first started operating in 2017, the European Reference Network for Rare Neurological Diseases (ERN-RND) implemented a multi-channel communication strategy to effectively reach its target audience: he...

    Authors: Alicia Brunelle Praschberger, Annemarie E. M. Post, Sanja Hermanns and Holm Graessner
    Citation: Orphanet Journal of Rare Diseases 2022 17:89
  20. The generic 36-item Short-Form Health Survey (SF-36v2) has been used to assess health related quality of life in adult patients with hereditary angioedema due to C1-inhibitor deficiency (C1-INH-HAE) even thoug...

    Authors: Paola Palao-Ocharan, Nieves Prior, Elia Pérez-Fernández, Magdalena Caminoa and Teresa Caballero
    Citation: Orphanet Journal of Rare Diseases 2022 17:88
  21. We studied a young woman with atypical diabetes associated with mild intellectual disability, lymphedema distichiasis syndrome (LDS) and polymalformative syndrome including distichiasis. We used different gene...

    Authors: Lauriane Le Collen, Brigitte Delemer, Marta Spodenkiewicz, Pascale Cornillet Lefebvre, Emmanuelle Durand, Emmanuel Vaillant, Alaa Badreddine, Mehdi Derhourhi, Tarik Ait Mouhoub, Guillaume Jouret, Pauline Juttet, Pierre François Souchon, Martine Vaxillaire, Philippe Froguel, Amélie Bonnefond and Martine Doco Fenzy
    Citation: Orphanet Journal of Rare Diseases 2022 17:86
  22. The limited knowledge about the PTEN hamartoma tumor syndrome (PHTS) makes its diagnosis a challenging task. We aimed to define the clinical and genetic characteristics of this syndrome in the Spanish populati...

    Authors: Laura Pena-Couso, María Ercibengoa, Fátima Mercadillo, David Gómez-Sánchez, Lucía Inglada-Pérez, María Santos, Javier Lanillos, David Gutiérrez-Abad, Almudena Hernández, Pablo Carbonell, Rocío Letón, Mercedes Robledo, Cristina Rodríguez-Antona, José Perea and Miguel Urioste
    Citation: Orphanet Journal of Rare Diseases 2022 17:85
  23. The Brazilian Policy of Comprehensive Care for People with Rare Diseases (BPCCPRD) was established by the Ministry of Health to reduce morbidity and mortality and improve the quality of life of people with rar...

    Authors: Têmis Maria Félix, Bibiana Mello de Oliveira, Milena Artifon, Isabelle Carvalho, Filipe Andrade Bernardi, Ida V. D. Schwartz, Jonas A. Saute, Victor E. F. Ferraz, Angelina X. Acosta, Ney Boa Sorte and Domingos Alves
    Citation: Orphanet Journal of Rare Diseases 2022 17:84
  24. GNAS is a complex gene that encodes Gsα, a signaling protein that triggers a complex network of pathways. Heterozygous inactivating mutations in Gsα-coding GNAS exons cause hormonal resistance; on the contrary, a...

    Authors: Paolo Cavarzere, Andrea Gastaldi, Francesca Marta Elli, Rossella Gaudino, Erika Peverelli, Milena Brugnara, Susanne Thiele, Francesca Granata, Giovanna Mantovani and Franco Antoniazzi
    Citation: Orphanet Journal of Rare Diseases 2022 17:83

    The Correction to this article has been published in Orphanet Journal of Rare Diseases 2022 17:169

  25. Wilson disease is an autosomal recessive disease of liver copper metabolism with predominant hepatic and neurological manifestations. Long-term data on the clinical follow-up and treatment efficacy are limited...

    Authors: Isabel Garrido, Margarida Marques, Rodrigo Liberal, Hélder Cardoso, Susana Lopes and Guilherme Macedo
    Citation: Orphanet Journal of Rare Diseases 2022 17:82
  26. Accurate measurement of any constructs in clinical studies is of critical importance, especially if the adoption of an intervention relies on detecting a significant treatment effect where one exists. Under Ne...

    Authors: Ravi Jandhyala
    Citation: Orphanet Journal of Rare Diseases 2022 17:81
  27. Myotonic dystrophy (DM) is a rare, inherited disorder with multi-systemic effects that impact the skeletal muscles, eyes, heart, skin and gastrointestinal, endocrine, respiratory, and central nervous systems. ...

    Authors: Sarah J. Howe, David Ladipus, Michael Hull, Jason Yeaw, Tanya Stevenson and Jacinda B. Sampson
    Citation: Orphanet Journal of Rare Diseases 2022 17:79
  28. Hypophosphatasia (HPP) is a rare inherited metabolic disorder caused by mutations in the ALPL gene, which encodes tissue nonspecific alkaline phosphatase. The severity of HPP is widely diverse from the perinatal ...

    Authors: Yohei Sugiyama, Taijiro Watanabe, Makiko Tajika, Tetsuro Matsuhashi, Masaru Shimura, Takuya Fushimi, Keiko Ichimoto, Ayako Matsunaga, Tomohiro Ebihara, Tomoko Tsuruoka, Tomoyuki Akiyama and Kei Murayama
    Citation: Orphanet Journal of Rare Diseases 2022 17:78
  29. Prader–Willi syndrome (PWS) is a complex multisystem genetic disorder with distinct genetic and clinical features. Among other clinical symptoms, PWS is characterized by severe infantile hypotonia with feeding...

    Authors: Gisela Vasconcelos, Jo S. Stenehjem, Stefan Axelsson and Ronnaug Saeves
    Citation: Orphanet Journal of Rare Diseases 2022 17:77
  30. The diagnostic journey for many rare disease patients remains challenging despite use of latest genetic technological advancements. We hypothesize that some patients remain undiagnosed due to more complex diag...

    Authors: Simona D. Frederiksen, Vladimir Avramović, Tatiana Maroilley, Anna Lehman, Laura Arbour and Maja Tarailo-Graovac
    Citation: Orphanet Journal of Rare Diseases 2022 17:76
  31. MPS IIIA is a rare, degenerative pediatric genetic disease characterized by symptoms impacting cognition, mobility and behavior; the mean age of death is around 15 years of age. Currently, there are no approve...

    Authors: Sally Lanar, Samantha Parker, Cara O’Neill, Alexia Marrel, Benoit Arnould, Bénédicte Héron, Nicole Muschol, Frits A. Wijburg, Anupam Chakrapani, Sophie Olivier and Karen Aiach
    Citation: Orphanet Journal of Rare Diseases 2022 17:75
  32. Secondary peripheral chondrosarcomas arising in solitary osteochondromas is an unusual complication, reported in small series. In this study, we aimed to present our experience with this rare variant of chondr...

    Authors: Alberto Righi, Marina Pacheco, Stefania Cocchi, Sofia Asioli, Marco Gambarotti, Davide Maria Donati, Andrea Evangelista, Maria Gnoli, Manuela Locatelli, Marina Mordenti, Manila Boarini, Evelise Brizola, Elena Pedrini and Luca Sangiorgi
    Citation: Orphanet Journal of Rare Diseases 2022 17:74
  33. In France, the cystic fibrosis (CF) care pathway is coordinated by multidisciplinary teams from specialised CF centres or transplant centres. It includes the care provided at home or out of hospital, risk prev...

    Authors: D. Pougheon Bertrand, A. Fanchini, P. Lombrail, G. Rault, A. Chansard, N. Le Breton, C. Frenod, F. Milon, C. Heymes-Royer, D. Segretain, M. Silber, S. Therouanne, J. Haesebaert, C. Llerena, P. Michel and Q. Reynaud
    Citation: Orphanet Journal of Rare Diseases 2022 17:73
  34. Porphyria cutanea tarda (PCT) is a skin disorder caused by a defect in the liver enzyme uroporphyrinogen decarboxylase and is associated with hepatitis C virus infection, high alcohol intake, smoking and iron ...

    Authors: Carl Michael Baravelli, Aasne Karine Aarsand, Sverre Sandberg and Mette Christophersen Tollånes
    Citation: Orphanet Journal of Rare Diseases 2022 17:72

    The Correction to this article has been published in Orphanet Journal of Rare Diseases 2022 17:180

  35. Respiratory complications are the most important cause of morbidity and mortality in spinal muscular atrophy (SMA). Respiratory muscle weakness results in impaired cough, recurrent respiratory tract infections...

    Authors: Esther S. Veldhoen, Camiel A. Wijngaarde, Erik H. J. Hulzebos, Roelie M. Wösten-van Asperen, Renske I. Wadman, Ruben P. A. van Eijk, Fay Lynn Asselman, Marloes Stam, Louise A. M. Otto, Inge Cuppen, Feline E. V. Scheijmans, Laura P. Verweij-van den Oudenrijn, Bart Bartels, Michael A. Gaytant, Cornelis K. van der Ent and W. Ludo van der Pol
    Citation: Orphanet Journal of Rare Diseases 2022 17:70
  36. Prader-Willi syndrome (PWS), is a genetically determined neurodevelopmental disorder, associated with intellectual disabilities and a high incidence of obesity, diabetes mellitus, and respiratory disorders. We...

    Authors: J. E. Whittington, A. J. Holland, D. J. Driscoll, N. Hodebeck-Stuntebeck and A. Hoctor
    Citation: Orphanet Journal of Rare Diseases 2022 17:69
  37. Transition from childhood to adulthood (TCA) is usually difficult in rare, progressive and multisystemic diseases. New treatments and modalities of care for many lysosomal diseases (LD) can increase life expec...

    Authors: Delphine Genevaz, Armelle Arnoux, Catherine Marcel, Anaïs Brassier, Samia Pichard, François Feillet, François Labarthe, Brigitte Chabrol, Marc Berger, Anne-Sophie Lapointe, Yvann Frigout, Bénédicte Héron, Gilles Chatellier and Nadia Belmatoug
    Citation: Orphanet Journal of Rare Diseases 2022 17:68
  38. 22q11.2 deletion syndrome (22q11.2DS) is a rare disease with an important characteristic—clinical heterogeneity. The diversity of organs, regions, and systems of the body that can be affected requires periodic...

    Authors: Isabela Mayá Wayhs Silva and Vera Lúcia Gil-da-Silva-Lopes
    Citation: Orphanet Journal of Rare Diseases 2022 17:67
  39. Newborn screening (NBS) has been implemented for neonatal inborn disorders using various technology platforms, but false-positive and false-negative results are still common. In addition, target diseases of NB...

    Authors: Xinwen Huang, Dingwen Wu, Lin Zhu, Wenjun Wang, Rulai Yang, Jianbin Yang, Qunyan He, Bingquan Zhu, Ying You, Rui Xiao and Zhengyan Zhao
    Citation: Orphanet Journal of Rare Diseases 2022 17:66
  40. POU3F4 is the causative gene for X-linked deafness-2 (DFNX2), characterized by incomplete partition type III (IP-III) malformation of the inner ear. The purpose of this study was to investigate the clinical chara...

    Authors: Ying Chen, Jiajun Qiu, Yingwei Wu, Huan Jia, Yi Jiang, Mengda Jiang, Zhili Wang, Hai-Bin Sheng, Lingxiang Hu, Zhihua Zhang, Zhaoyan Wang, Yun Li, Zhiwu Huang and Hao Wu
    Citation: Orphanet Journal of Rare Diseases 2022 17:65
  41. Peutz Jeghers syndrome (PJS) is an autosomal dominant genetic disorder caused by STK11 mutation with a predisposition to gastrointestinal polyposis and cancer. PJS patients suffer poor quality of life and are ...

    Authors: Xiqiao Xu, Ruifeng Song, Kaiyue Hu, Ya Li, Haixia Jin, Bing Chen, Wenyan Song, Yile Zhang, Jiawei Xu and Yingpu Sun
    Citation: Orphanet Journal of Rare Diseases 2022 17:64
  42. Cenegermin (Oxervate, Dompè Farmaceutici, Milan, IT), a recombinant human NGF, is a potentially healing new drug for neurotrophic keratopathy (NK), a rare but challenging disease affecting the cornea. To date,...

    Authors: Emilio Pedrotti, Erika Bonacci, Chiara Chierego, Alessandra De Gregorio, Tiziano Cozzini, Tommaso Brighenti, Grazia Caldarella, Giovanlorenzo Pastore, Adriano Fasolo and Giorgio Marchini
    Citation: Orphanet Journal of Rare Diseases 2022 17:63
  43. Current world experience regarding living donor liver transplantation (LDLT) in the treatment of propionic acidemia (PA) is limited, especially in terms of using obligate heterozygous carriers as donors. This ...

    Authors: Zhi-Gui Zeng, Guang-Peng Zhou, Lin Wei, Wei Qu, Ying Liu, Yu-Le Tan, Jun Wang, Li-Ying Sun and Zhi-Jun Zhu
    Citation: Orphanet Journal of Rare Diseases 2022 17:62
  44. Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycemia in infants and children, and carries a considerable risk of neurological damage and developmental delays if diagnosis and tr...

    Authors: Indraneel Banerjee, Julie Raskin, Jean-Baptiste Arnoux, Diva D. De Leon, Stuart A. Weinzimer, Mette Hammer, David M. Kendall and Paul S. Thornton
    Citation: Orphanet Journal of Rare Diseases 2022 17:61

    The Correction to this article has been published in Orphanet Journal of Rare Diseases 2022 17:205

  45. Neurodevelopmental disorders (NDDs) are a group of heterogeneous conditions, which include mainly intellectual disability, developmental delay (DD) and autism spectrum disorder (ASD), among others. These disea...

    Authors: María Isabel Álvarez-Mora, Aurora Sánchez, Laia Rodríguez-Revenga, Jordi Corominas, Raquel Rabionet, Susana Puig and Irene Madrigal
    Citation: Orphanet Journal of Rare Diseases 2022 17:60
  46. Authors: Alicia Scocchia, Tiia Kangas-Kontio, Melita Irving, Matti Hero, Inka Saarinen, Liisa Pelttari, Kimberly Gall, Satu Valo, Johanna M. Huusko, Jonna Tallila, Johanna Sistonen, Juha Koskenvuo and Tero-Pekka Alastalo
    Citation: Orphanet Journal of Rare Diseases 2022 17:59

    The original article was published in Orphanet Journal of Rare Diseases 2021 16:412