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  1. Thoracic aortic aneurysm or dissections (TAADs) represent a group of life-threatening diseases. Genetic aetiology can affect the age of onset, clinical phenotype, and timing of intervention. We conducted a pro...

    Authors: Yanyu Duan, Jianxian Xiong, Zhenghong Lai, Yiming Zhong, Chengnan Tian, Zhiming Du, Zhifang Luo, Junjian Yu, Wentong Li, Weichang Xu, Yabing Wang, Ting Ding, Xuehong Zhong, Mengmeng Pan, Yu Qiu, Xuemei Lan…
    Citation: Orphanet Journal of Rare Diseases 2023 18:251
    Content type: Research Published on:

  2. Congenital disorders of glycosylation are a group of more than 160 rare genetic defects in protein and lipid glycosylation. Since the first clinical report in 1980 of PMM2-CDG, the most common CDG worldwide, r...

    Authors: Maria Monticelli, Tania D’Onofrio, Jaak Jaeken, Eva Morava, Giuseppina Andreotti and Maria Vittoria Cubellis
    Citation: Orphanet Journal of Rare Diseases 2023 18:247
    Content type: Review Published on:

  3. Gaucher’s disease (GD), a rare condition, represents the most common lysosomal storage disorder. The cardinal manifestations of GD are fatigue, hepatosplenomegaly, anemia, thrombocytopenia, bone pain, and bone...

    Authors: Junchao Feng, Zhongchun Gao, Zhao Shi, Yue Wang and Shunping Li
    Citation: Orphanet Journal of Rare Diseases 2023 18:244
    Content type: Review Published on:

  4. Although bronchiectasis has been recognised as a feature of some patients with Alpha1-Antitrypsin deficiency the prevalence and characteristics are not widely known. We wished to determine the prevalence of br...

    Authors: Robert A. Stockley, Anita Pye, Joshua De Soyza, Alice M. Turner and Marc Miravitlles
    Citation: Orphanet Journal of Rare Diseases 2023 18:243
    Content type: Research Published on:

  5. A rare disease (RD) diagnosis and therapy can affect the family’s quality of life and mental health. A lack of information and missing care options lead to helplessness and psychological stress within families...

    Authors: Stefanie Witt, Katharina Schuett, Silke Wiegand-Grefe, Johannes Boettcher and Julia Quitmann
    Citation: Orphanet Journal of Rare Diseases 2023 18:242
    Content type: Research Published on:

  6. A rare muscle disease, GNE myopathy is caused by mutations in the GNE gene involved in sialic acid biosynthesis. Our recent phase II/III study has indicated that oral administration of aceneuramic acid to patient...

    Authors: Madoka Mori-Yoshimura, Naoki Suzuki, Masahisa Katsuno, Masanori P. Takahashi, Satoshi Yamashita, Yasushi Oya, Atsushi Hashizume, Shinichiro Yamada, Masayuki Nakamori, Rumiko Izumi, Masaaki Kato, Hitoshi Warita, Maki Tateyama, Hiroshi Kuroda, Ryuta Asada, Takuhiro Yamaguchi…
    Citation: Orphanet Journal of Rare Diseases 2023 18:241
    Content type: Research Published on:

  7. Genetic testing can facilitate the diagnosis and subsequent therapeutic management of rare diseases. However, there is a lack of data on the use of genetic testing for rare diseases. This study aims to describ...

    Authors: Weida Liu, Peng Liu, Dan Guo, Ye Jin, Kun Zhao, Jiayin Zheng, Kexin Li, Linkang Li and Shuyang Zhang
    Citation: Orphanet Journal of Rare Diseases 2023 18:240
    Content type: Research Published on:

  8. Inborn metabolic diseases (IMD) are rare conditions that can be diagnosed during adulthood. Patients with IMD may have joint symptoms and the challenge is to establish an early diagnosis in order to institute ...

    Authors: Amaury Loret, Claire Jacob, Saloua Mammou, Adrien Bigot, Hélène Blasco, Alexandra Audemard-Verger, Ida VD Schwartz, Denis Mulleman and François Maillot
    Citation: Orphanet Journal of Rare Diseases 2023 18:239
    Content type: Review Published on:

  9. X-linked adrenoleukodystrophy (ALD) is a rare metabolic and neurodegenerative disorder belonging to the group of leukodystrophies, with an estimated incidence around 1:25 000 newborns worldwide, mostly among m...

    Authors: Caroline Sevin, Samira Hatteb, Aurore Clément, Fabrizia Bignami, Louis Chillotti, Françoise Bugnard, Stève Bénard and Odile Boespflug-Tanguy
    Citation: Orphanet Journal of Rare Diseases 2023 18:238
    Content type: Research Published on:

  10. Children born with esophageal atresia experience feeding difficulties. This study investigates the association of feeding difficulties and generic health-related quality of life among children aged 2–7 and 8–1...

    Authors: Sofie Örnö Ax, Michaela Dellenmark-Blom, Kate Abrahamsson, Linus Jönsson and Vladimir Gatzinsky
    Citation: Orphanet Journal of Rare Diseases 2023 18:237
    Content type: Research Published on:

  11. Rare diseases have become a major public health concern worldwide. However, detailed epidemiological data are lacking. With the development of the Internet, search queries have played an important role in dise...

    Authors: Lei Zhang, Ye Jin, Jiayu Li, Zhiyu He, Dingding Zhang, Min Zhang and Shuyang Zhang
    Citation: Orphanet Journal of Rare Diseases 2023 18:236
    Content type: Research Published on:

  12. Itch is common and distressing in epidermolysis bullosa (EB) but has not previously been studied in depth in different recessive dystrophic EB (RDEB) subtypes.

    Authors: Jemima E. Mellerio, Elizabeth I. Pillay, Lesedi Ledwaba-Chapman, Alessandra Bisquera, Susan J. Robertson, Marieta Papanikolaou, John A. McGrath, Yanzhong Wang, Anna E. Martinez and Eunice Jeffs
    Citation: Orphanet Journal of Rare Diseases 2023 18:235
    Content type: Research Published on:

  13. Osteogenesis imperfecta (OI) is a connective tissue disorder affecting the skeleton and other organs, which has multiple genetic patterns, numerous causative genes, and complex pathogenic mechanisms. The previ...

    Authors: Hongjie Yu, Changrong Li, Huixiao Wu, Weibo Xia, Yanzhou Wang, Jiajun Zhao and Chao Xu
    Citation: Orphanet Journal of Rare Diseases 2023 18:234
    Content type: Review Published on:

  14. Children with long-gap esophageal atresia (LGEA) risk living with aerodigestive morbidity and mental health difficulties. No previous study has investigated their experiences of schooling, despite the importan...

    Authors: M. Dellenmark-Blom, C. Reilly, E. Öst, S. Örnö Ax, J. F. Svensson, A.-M. Kassa, L. Jönsson, K. Abrahamsson, V. Gatzinsky, AM. Tollne, E. Omling, P. Stenström and H. Engstrand Lilja
    Citation: Orphanet Journal of Rare Diseases 2023 18:233
    Content type: Research Published on:

  15. Prophylaxis therapy for children with moderate and severe hemophilia A (HA) is the optimal treatment regimen. The real-world treatment regimens, patient-reported outcomes, and health-related quality of life (H...

    Authors: Luying Zhang, Peng Zhang and Wen Chen
    Citation: Orphanet Journal of Rare Diseases 2023 18:232
    Content type: Research Published on:

  16. Pompe disease is a rare glycogen storage disorder caused by deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA), leading to glycogen deposition in multiple tissues. Infantile-onset Pompe disease (I...

    Authors: Mei-Yan Chan, Julaina Abdul Jalil, Yusnita Yakob, Siti Aishah Abdul Wahab, Ernie Zuraida Ali, Mohd Khairul Nizam Mohd Khalid, Huey-Yin Leong, Hui-Bein Chew, Jeya Bawani Sivabalakrishnan and Lock-Hock Ngu
    Citation: Orphanet Journal of Rare Diseases 2023 18:231
    Content type: Research Published on:

  17. Spinal muscular atrophy (SMA) is an autosomal recessive disorder caused by a biallelic mutation in the SMN1 gene, resulting in progressive muscle weakness and atrophy. Nusinersen is the first disease-modifying dr...

    Authors: Anna Łusakowska, Adrianna Wójcik, Anna Frączek, Karolina Aragon-Gawińska, Anna Potulska-Chromik, Paweł Baranowski, Ryszard Nowak, Grzegorz Rosiak, Krzysztof Milczarek, Dariusz Konecki, Zuzanna Gierlak-Wójcicka, Małgorzata Burlewicz and Anna Kostera-Pruszczyk
    Citation: Orphanet Journal of Rare Diseases 2023 18:230
    Content type: Research Published on:

  18. Drug development is a complex, resource intensive and long process in any disease area, and developing medicines to treat rare diseases presents even more challenges due to the small patient populations, often...

    Authors: Anneliene Hechtelt Jonker, Liliana Batista, Michela Gabaldo, Virginie Hivert and Diego Ardigo
    Citation: Orphanet Journal of Rare Diseases 2023 18:229
    Content type: Position statement Published on:

  19. Inherited metabolic disorders (IMDs) usually occurs at young age and hence it severely threatening the health and life of young people. While so far there lacks a comprehensive study which can reveals China’s ...

    Authors: Beibei Zhao, Peichun Chen, Xuhui She, Xiuru Chen, Zhou Ni, Duo Zhou, Zinan Yu, Chang Liu and Xinwen Huang
    Citation: Orphanet Journal of Rare Diseases 2023 18:228
    Content type: Research Published on:

  20. Haemophilia A carries a substantial healthcare burden, affecting health-related quality of life (HRQoL). The Cost of Haemophilia in Men: a Socioeconomic Survey II (CHESS II), a retrospective real-world study, ...

    Authors: Lisa Young, Yong Chen, José Alvir, Tom Burke, Enrico Ferri Grazzi and Ian Winburn
    Citation: Orphanet Journal of Rare Diseases 2023 18:227
    Content type: Research Published on:

  21. Haemophilia A is a rare, hereditary haemorrhagic disease that manifests as induced spontaneous bleeding and leads to disability or premature death in severe cases. Prophylactic treatment is optimal for patient...

    Authors: Ziyu Liu, Junchao Feng, Yunhai Fang, Yan Cheng and Shunping Li
    Citation: Orphanet Journal of Rare Diseases 2023 18:226
    Content type: Research Published on:

  22. Mutations in the NMDA receptor are known to disrupt glutamatergic signaling crucial for early neurodevelopment, often leading to severe global developmental delay/intellectual disability, epileptic encephalopa...

    Authors: Sara A. Lewis, Sheetal Shetty, Sean Gamble, Jennifer Heim, Ningning Zhao, Gideon Stitt, Matthew Pankratz, Tara Mangum, Iris Marku, Robert B. Rosenberg, Angus A. Wilfong, Michael C. Fahey, Sukhan Kim, Scott J. Myers, Brian Appavu and Michael C. Kruer
    Citation: Orphanet Journal of Rare Diseases 2023 18:225
    Content type: Research Published on:

  23. Developing drugs for rare diseases is challenging, and the precision and objectivity of outcome measures is critical to this process. In recent years, a number of technologies have increasingly been used for r...

    Authors: Margaux Poleur, Theodora Markati and Laurent Servais
    Citation: Orphanet Journal of Rare Diseases 2023 18:224
    Content type: Review Published on:

  24. Non-syndromic inherited retinal dystrophies (IRDs) such as retinitis pigmentosa or Leber congenital amaurosis generally manifest between early childhood and late adolescence, imposing profound long-term impact...

    Authors: Vittoria Murro, Sandro Banfi, Francesco Testa, Giancarlo Iarossi, Benedetto Falsini, Andrea Sodi, Sabrina Signorini, Achille Iolascon, Roberta Russo, Dario Pasquale Mucciolo, Roberto Caputo, Giacomo Maria Bacci, Sara Bargiacchi, Simona Turco, Stefania Fortini and Francesca Simonelli
    Citation: Orphanet Journal of Rare Diseases 2023 18:223
    Content type: Review Published on:

  25. Despite early diagnosis and compliance with phenylalanine (Phe)-restricted diets, many individuals with phenylketonuria (PKU) still exhibit neurological changes and experience deficits in working memory and ot...

    Authors: Meriah S. Schoen, Kelly M. Boland, Shawn E. Christ, Xiangqin Cui, Usha Ramakrishnan, Thomas R. Ziegler, Jessica A. Alvarez and Rani H. Singh
    Citation: Orphanet Journal of Rare Diseases 2023 18:222
    Content type: Research Published on:

  26. Heterozygous loss-of-function variants in the NPR2 gene cause short stature with nonspecific skeletal abnormalities and account for about 2 ~ 6% of idiopathic short stature. This study aimed to analyze and identi...

    Authors: Hong Chen, Suping Zhang, Yunteng Sun, Jiao Chen, Ke Yuan, Ying Zhang, Xiaohong Yang, Xiangquan Lin and Ruimin Chen
    Citation: Orphanet Journal of Rare Diseases 2023 18:221
    Content type: Research Published on:

  27. Rare diseases are a global public health issue with a more pressing situation in China. Unfortunately, the relevant research and development in this country are still in its infancy, leading to limited drug ac...

    Authors: Zhiyao Zhao, Zhongyang Pei, Anxia Hu, Yuhui Zhang and Jing Chen
    Citation: Orphanet Journal of Rare Diseases 2023 18:220
    Content type: Research Published on:

  28. Foramen magnum stenosis is a serious, and potentially life-threatening complication of achondroplasia. The foramen magnum is smaller in infants with achondroplasia, compared with the general population, and bo...

    Authors: Melita Irving, Moeenaldeen AlSayed, Paul Arundel, Geneviève Baujat, Tawfeg Ben-Omran, Silvio Boero, Valérie Cormier-Daire, Svein Fredwall, Encarna Guillen-Navarro, Heike Hoyer-Kuhn, Philip Kunkel, Christian Lampe, Mohamad Maghnie, Klaus Mohnike, Geert Mortier and Sérgio B. Sousa
    Citation: Orphanet Journal of Rare Diseases 2023 18:219
    Content type: Position statement Published on:

  29. In biomedicine, machine learning (ML) has proven beneficial for the prognosis and diagnosis of different diseases, including cancer and neurodegenerative disorders. For rare diseases, however, the requirement ...

    Authors: Jasper Ouwerkerk, Stephanie Feleus, Kasper F. van der Zwaan, Yunlei Li, Marco Roos, Willeke M. C. van Roon-Mom, Susanne T. de Bot, Katherine J. Wolstencroft and Eleni Mina
    Citation: Orphanet Journal of Rare Diseases 2023 18:218
    Content type: Research Published on:

  31. Rare diseases (RDs) affect approximately 8% of all people or > 400 million people globally. The Australian Government’s National Strategic Action Plan for Rare Diseases has identified the need for a national, ...

    Authors: Rasa Ruseckaite, Chethana Mudunna, Marisa Caruso, Falak Helwani, Nicole Millis, Paul Lacaze and Susannah Ahern
    Citation: Orphanet Journal of Rare Diseases 2023 18:216
    Content type: Review Published on:

  32. Glutaric acidemia type 1 (GA1) is a rare autosomal recessive inherited metabolic disorder caused by variants in the gene encoding the enzyme glutaryl-CoA dehydrogenase (GCDH). The estimated prevalence of GA1 a...

    Authors: Jinfu Zhou, Guilin Li, Lin Deng, Peiran Zhao, Yinglin Zeng, Xiaolong Qiu, Jinying Luo and Liangpu Xu
    Citation: Orphanet Journal of Rare Diseases 2023 18:215
    Content type: Research Published on:

  33. Patients suffering from connective tissue disorders like Ehlers–Danlos syndrome hypermobility type/joint hypermobility syndrome (EDS-HT/JHS) may be affected by craniocervical instability (CCI). These patients ...

    Authors: Carlos Ramírez-Paesano, Claudia Rodiera Clarens, Allan Sharp Segovia, Alan Coila Bustinza, Josep Rodiera Olive and Albert Juanola Galceran
    Citation: Orphanet Journal of Rare Diseases 2023 18:214
    Content type: Review Published on:

  34. Rare diseases (RDs) are life-threatening or chronically debilitating and offer a high level of complexity. The aim of this study is to assess medical students’ knowledge and awareness of RDs as well as their p...

    Authors: Eleonora Hristova-Atanasova, Georgi Iskrov, Ivan Atanasov, Atilla Genc and Rumen Stefanov
    Citation: Orphanet Journal of Rare Diseases 2023 18:213
    Content type: Research Published on:

  36. The natural history of skeletal complications in achondroplasia (ACH) is well-described. However, it remains unclear how the rates of non-skeletal complications, surgical procedures, healthcare needs and morta...

    Authors: Jeanne M. Pimenta, Melita Irving, Moira Cheung, Louise Mazzeo, Sarah Landis and Swati Mukherjee
    Citation: Orphanet Journal of Rare Diseases 2023 18:211
    Content type: Research Published on:

  37. The European registry for individuals with GSD5 and other muscle glycogenosis (EUROMAC) was launched to register rare muscle glycogenosis in Europe, to facilitate recruitment for research trials and to learn a...

    Authors: Walaa Karazi, Renata S. Scalco, Mads G. Stemmerik, Nicoline Løkken, Alejandro Lucia, Alfredo Santalla, Andrea Martinuzzi, Marinela Vavla, Gianluigi Reni, Antonio Toscano, Olimpia Musumeci, Carlyn V. Kouwenberg, Pascal Laforêt, Beatriz San Millán, Irene Vieitez, Gabriele Siciliano…
    Citation: Orphanet Journal of Rare Diseases 2023 18:210
    Content type: Research Published on:

  38. Agalsidase beta, an enzyme replacement therapy for Fabry disease, is dosed biweekly at 1 mg/kg body weight, with increasing infusion rates based on tolerability. The US label specifies ≥ 90-min infusions for a...

    Authors: Chae Sung Lee, Mina Tsurumi and Yoshikatsu Eto
    Citation: Orphanet Journal of Rare Diseases 2023 18:209
    Content type: Research Published on:

  39. Dermatomyositis (DM) positive with anti-melanoma differentiation-associated gene 5 (anti-MDA5-DM) is a systemic autoimmune disease with high mortality. This study aimed to explore the risk factors of death in ...

    Authors: Lijun Liu, Yinli Zhang, Cong Wang, Wenjuan Guan, Xin Zhang, Lei Zhang, Yujie He, Wenlu Hu, Shengyun Liu and Tianfang Li
    Citation: Orphanet Journal of Rare Diseases 2023 18:208
    Content type: Research Published on:

  41. Niemann-Pick disease type C (NP-C) is a rare neurovisceral lysosomal lipid storage disease characterized by progressive neurodegeneration and premature death. While miglustat can stabilize neurological manifes...

    Authors: Cécile Freihuber, Bahia Dahmani-Rabehi, Anaïs Brassier, Pierre Broué, Claude Cances, Brigitte Chabrol, Didier Eyer, François Labarthe, Philippe Latour, Thierry Levade, Samia Pichard, Caroline Sevin, Marie T. Vanier and Bénédicte Héron
    Citation: Orphanet Journal of Rare Diseases 2023 18:204
    Content type: Research Published on:

  42. Fabry disease is a rare, X-linked inherited lysosomal storage disorder, that manifests as a heterogeneous disease with renal, cardiac and nervous system involvement. The most common pain experienced by people ...

    Authors: Karolina M. Stepien, Alexander Broomfield, Duncan Cole, Patrick B. Deegan, Stuart Forshaw-Hulme, Derralynn Hughes, Ana Jovanovic, Liz Morris, Alison Muir and Uma Ramaswami
    Citation: Orphanet Journal of Rare Diseases 2023 18:203
    Content type: Research Published on:

  43. To determine whether the rare NLRP3-Associated Autoinflammatory Disease (NLRP3-AID) is associated with retinal changes and to assess the ocular involvement.

    Authors: Zhangwanyu Wei, Zhikun Yang, Donghui Li, Xiao Zhang, Bing Li, Xufeng Zhao, Wenyu Yan, Bingxuan Wu, Na Wu, Xuqian Wang, Weihong Yu and Min Shen
    Citation: Orphanet Journal of Rare Diseases 2023 18:202
    Content type: Research Published on:

  44. Intellectual disability (ID) has a prevalence of 1–3% and aproximately 30–50% of ID cases have a genetic cause. Development of next-generation sequencing has shown a high diagnostic potential. The aim of this ...

    Authors: María Juliana Ballesta-Martínez, Virginia Pérez-Fernández, Vanesa López-González, María José Sánchez-Soler, Ana Teresa Serrano-Antón, Lidia Isolina Rodríguez-Peña, Maria Barreda-Sánchez, Lluís Armengol-Dulcet and Encarna Guillén-Navarro
    Citation: Orphanet Journal of Rare Diseases 2023 18:201
    Content type: Review Published on:

  45. Congenital cataract is a leading cause of treatable childhood blindness and both clinically and genetically heterogeneous. Among the already characterized phenotypes, coralliform cataract is a rare special for...

    Authors: Kai-Jie Wang, Jue-Xue Wang, Jin-Da Wang, Meng Li, Jing-Shang Zhang, Ying-Yan Mao and Xiu-Hua Wan
    Citation: Orphanet Journal of Rare Diseases 2023 18:200
    Content type: Research Published on:

  46. Fabry disease (FD) is a rare X-linked metabolic storage disorder due to the deficiency of lysosomal α-galactosidase A which causes the accumulation of glycosphingolipids throughout the body. Underweight and lo...

    Authors: Zhihong Lu, Guoping Huang, Ling Yu, Yan Wang, Langping Gao, Li Lin, Lidan Hu and Jianhua Mao
    Citation: Orphanet Journal of Rare Diseases 2023 18:199
    Content type: Research Published on:

  47. Noonan syndrome spectrum disorders (NSSDs) constitute a group within the Rasopathies, and are one of the largest groups of syndromes with impact on multi-organ involvement known. The extreme variability of the...

    Authors: Dagmar K. Tiemens, Lotte Kleimeier, Erika Leenders, Ellen Wingbermühle, Renee L. Roelofs, Barbara Sibbles, Floor S.M. Oostwegel, Eva Vroonland, Conny van Leeuwen, Hanneke Niessen, Paul Sonnega, Anniek Duursma, Michel A. A. P. Willemsen, Jos M. T. Draaisma and Carina A.C.M. Pittens
    Citation: Orphanet Journal of Rare Diseases 2023 18:198
    Content type: Research Published on:

  48. GD and ASMD are lysosomal storage disorders that enter into differential diagnosis due to the possible overlap in their clinical manifestations. The availability of safe and effective enzymatic therapies has r...

    Authors: Maja Di Rocco, Carlo Dionisi Vici, Alberto Burlina, Francesco Venturelli, Agata Fiumara, Simona Fecarotta, Maria Alice Donati, Marco Spada, Daniela Concolino and Andrea Pession
    Citation: Orphanet Journal of Rare Diseases 2023 18:197
    Content type: Research Published on:

  49. The development of e-health technologies for teleconsultation and exchange of knowledge is one of the core purposes of European Reference Networks (ERNs), including the ERN EURO-NMD for rare neuromuscular dise...

    Authors: Fernanda Fortunato, Francesca Bianchi, Giulia Ricci, Francesca Torri, Francesca Gualandi, Marcella Neri, Marianna Farnè, Fabio Giannini, Alessandro Malandrini, Nila Volpi, Diego Lopergolo, Vincenzo Silani, Nicola Ticozzi, Federico Verde, Davide Pareyson, Silvia Fenu…
    Citation: Orphanet Journal of Rare Diseases 2023 18:196
    Content type: Research Published on:

  50. Gaucher disease (GD) is a rare autosomal recessive lysosomal storage disorder. GD types 2 and 3 are known as neuronopathic Gaucher disease (nGD) because they have brain involvement that progresses over time. I...

    Authors: Tanya Collin-Histed, Madeline Stoodley, Kathleen Beusterien, Deborah Elstein, Dena H. Jaffe, Shoshana Revel-Vilk and Elin Haf Davies
    Citation: Orphanet Journal of Rare Diseases 2023 18:195
    Content type: Research Published on:
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  • ISSN: 1750-1172 (electronic)

Orphanet Journal of Rare Diseases

ISSN: 1750-1172