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  1. 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:

  2. 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:

  3. 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:

  4. 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:

  5. 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:

  6. 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:

  7. 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:

  8. 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:

  9. 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:

  10. 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:

  11. 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:

  12. 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:

  13. 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:

  14. 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:

  16. 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:

  17. 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:

  18. 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:

  19. 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:

  21. 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:

  22. 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:

  23. 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:

  24. 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:

  25. Treatment recommendations for urea cycle disorders (UCDs) include supplementation with amino acids involved in the urea cycle (arginine and/or citrulline, depending on the enzyme deficiency), to maximize ammon...

    Authors: Apolline Imbard, Juliette Bouchereau, Jean-Baptiste Arnoux, Anaïs Brassier, Manuel Schiff, Claire-Marine Bérat, Clément Pontoizeau, Jean-François Benoist, Constant Josse, François Montestruc and Pascale de Lonlay
    Citation: Orphanet Journal of Rare Diseases 2023 18:207
    Content type: Research Published on:

  26. Chronic nonbacterial osteomyelitis (CNO) is a rare, and impactful auto-inflammatory bone disease occurring in children and adults. Clinical care for CNO is challenging, as the condition lacks validated classif...

    Authors: A. T. Leerling, G. Clunie, E. Koutrouba, O. M. Dekkers, N. M. Appelman-Dijkstra and E. M. Winter
    Citation: Orphanet Journal of Rare Diseases 2023 18:206
    Content type: Research Published on:

  28. 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:

  29. 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:

  30. 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:

  31. 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:

  32. 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:

  33. 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:

  34. 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:

  35. 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:

  36. 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:

  37. 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:

  38. Authors: John L. P. Thompson, Amel Karaa, Hung Pham, Philip Yeske, Jeffrey Krischer, Yi Xiao, Yuelin Long, Amanda Kramer, David Dimmock, Amy Holbert, Cliff Gorski, Kristin M. Engelstad, Richard Buchsbaum, Xiomara Q. Rosales and Michio Hirano
    Citation: Orphanet Journal of Rare Diseases 2023 18:194
    Content type: Correction Published on:

    The original article was published in Orphanet Journal of Rare Diseases 2023 18:157

  39. The evaluation of clinical evidence takes account of health benefit (efficacy and safety) and the degree of certainty in the estimate of benefit. In orphan indications practical and ethical challenges in condu...

    Authors: Jaro Wex, Monika Szkultecka-Debek, Mariola Drozd, Sarah King and Natasa Zibelnik
    Citation: Orphanet Journal of Rare Diseases 2023 18:193
    Content type: Research Published on:

  40. Inherited blood disorders affect 7% of the population worldwide, with higher prevalences in countries in the “thalassemia belt,” which includes Bangladesh. Clinical management options for severely affected ind...

    Authors: Amanda S. Wendt, Joaquin Brintrup, Jillian L. Waid, Abdul Kader, Nathalie J. Lambrecht and Sabine Gabrysch
    Citation: Orphanet Journal of Rare Diseases 2023 18:192
    Content type: Research Published on:

  41. Among the various numbers of different autoinflammatory diseases (AIDs), the absolute majority of them remains rare, with a single representative in large populations. This project, endorsed by PRES, supported...

    Authors: Y. Vyzhga, V. Hentgen, R. Caorsi, H. Wittkowski, M. Hofer, N. Ruperto, E. Lainka, K. Theodoropoulou, D. Foell, E. Mosci and M. Gattorno
    Citation: Orphanet Journal of Rare Diseases 2023 18:191
    Content type: Research Published on:

  42. Authors: Ali Zare Dehnavi, Maryam Bemanalizadeh, Seyyed Mohammad Kahani, Mahmoud Reza Ashrafi, Mohammad Rohani, Mehran Beiraghi Toosi, Morteza Heidari, Sareh Hosseinpour, Behnam Amini, Shaghayegh Zokaei, Zahra Rezaei, Hajar Aryan, Man Amanat, Hassan Vahidnezhad, Pouria Mohammadi, Masoud Garshasbi…
    Citation: Orphanet Journal of Rare Diseases 2023 18:190
    Content type: Correction Published on:

    The original article was published in Orphanet Journal of Rare Diseases 2023 18:177

  43. Facial infiltrating lipomatosis (FIL) is a rare congenital disorder characterized by unilateral facial swelling, for which surgery is the prevailing therapeutic option. Several studies have shown that the deve...

    Authors: Hongrui Chen, Bin Sun, Wei Gao, Yajing Qiu, Chen Hua and Xiaoxi Lin
    Citation: Orphanet Journal of Rare Diseases 2023 18:189
    Content type: Research Published on:

  44. Authors: Sonia Pajares, Jose Antonio Arranz, Aida Ormazabal, Mireia Del Toro, Ángeles García-Cazorla, Aleix Navarro-Sastre, Rosa María López, Silvia María Meavilla, Mariela Mercedes de los Santos, Camila García-Volpe, Jose Manuel González de Aledo-Castillo, Ana Argudo, Jose Luís Marín, Clara Carnicer, Rafael Artuch, Frederic Tort…
    Citation: Orphanet Journal of Rare Diseases 2023 18:188
    Content type: Correction Published on:

    The original article was published in Orphanet Journal of Rare Diseases 2021 16:195

  45. Neurodegeneration due to cerebral folate transport deficiency is a rare autosomal recessive disorder caused by biallelic pathogenic variants in FOLR1. Onset typically occurs in late infancy and is characterized b...

    Authors: Ana Potic, Stefanie Perrier, Tijana Radovic, Svetlana Gavrilovic, Jelena Ostojic, Luan T. Tran, Isabelle Thiffault, Tomi Pastinen, Raphael Schiffmann and Geneviève Bernard
    Citation: Orphanet Journal of Rare Diseases 2023 18:187
    Content type: Research Published on:

  46. Fabry disease (FD) is an X-linked lysosomal storage disease resulting from mutations of α-galactosidase A gene, and has been emphasized as one of the etiologies of young stroke and leukoencephalopathy. Vertebr...

    Authors: Yan Lok Tiffany Lam, Bun Sheng, Hoi Ming Kwok, Ellen Lok Man Yu and Ka Fai Johnny Ma
    Citation: Orphanet Journal of Rare Diseases 2023 18:186
    Content type: Research Published on:

  47. Prader-Willi syndrome (PWS) is a rare genetic neurodevelopmental syndrome with highly increased risk of obesity and cardiovascular disease (CVD). Recent evidence suggests that inflammation is implicated in the...

    Authors: Sigrun Hope, Terje Nærland, Svein Olav Kolset, Thor Ueland, Ole A. Andreassen and Marianne Nordstrøm
    Citation: Orphanet Journal of Rare Diseases 2023 18:185
    Content type: Research Published on:

  48. Both cardiovascular and complement-mediated disorders might lead to microvascular damages in anti-neutrophil cytoplasm autoantibodies (ANCA)-associated vasculitides (AAV). We aimed at investigating, for the fi...

    Authors: P Triggianese, A D’Antonio, C Nesi, B Kroegler, M Di Marino, P Conigliaro, S Modica, E Greco, C Nucci, A Bergamini, MS Chimenti and M Cesareo
    Citation: Orphanet Journal of Rare Diseases 2023 18:184
    Content type: Research Published on:

  49. Multiple sclerosis (MS) may impact quality of life, careers and family plans of the affected individuals. The current treatments with disease modifying therapies aim to prevent people with MS (pwMS) from disab...

    Authors: Cecilia Rajda, Csilla Rózsa, Andrea Mike, Gábor Lovas, Zsolt Mezei, Gábor Jakab, Péter Ács, Gábor Rum, Magdolna Simó, Zita Jobbágy, Zita Bíró, Anita Trauninger, Piroska Imre, Klotild Mátyás, István Deme, Zsolt Illés…
    Citation: Orphanet Journal of Rare Diseases 2023 18:183
    Content type: Position statement Published on:

  50. Bardet-Biedl syndrome (BBS) is a rare, genetically heterogeneous obesity syndrome associated with hyperphagia. Given the early onset of BBS symptoms in childhood and multifaceted complications, this study aime...

    Authors: Elizabeth Forsythe, Usha G. Mallya, Min Yang, Caroline Huber, Mary Lynn Cala, Alexandra Greatsinger, Ella Hagopian, Jeremy Pomeroy and Andrea M. Haqq
    Citation: Orphanet Journal of Rare Diseases 2023 18:181
    Content type: Research Published on:
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  • ISSN: 1750-1172 (electronic)

Orphanet Journal of Rare Diseases

ISSN: 1750-1172