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  1. Dunnigan syndrome, or Familial Partial Lipodystrophy type 2 (FPLD2; ORPHA 2348), is a rare autosomal dominant disorder due to pathogenic variants of the LMNA gene. The objective of the French National Diagnosis a...

    Authors: H. Mosbah, B. Donadille, C. Vatier, S. Janmaat, M. Atlan, C. Badens, P. Barat, S. Béliard, J. Beltrand, R. Ben Yaou, E. Bismuth, F. Boccara, B. Cariou, M. Chaouat, G. Charriot, S. Christin-Maitre…
    Citation: Orphanet Journal of Rare Diseases 2022 17(Suppl 1):170

    This article is part of a Supplement: Volume 17 Supplement 1

  2. 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 17:169

    The original article was published in Orphanet Journal of Rare Diseases 2022 17:83

  3. Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare, disabling genetic disorder characterized by congenital malformations of the great toes and progressive heterotopic ossification of soft and connect...

    Authors: Robert J. Pignolo, Christopher Bedford-Gay, Amanda Cali, Michelle Davis, Patricia L. R. Delai, Kristi Gonzales, Candace Hixson, Alastair Kent, Hope Newport, Manuel Robert, Christiaan Scott and Frederick S. Kaplan
    Citation: Orphanet Journal of Rare Diseases 2022 17:168
  4. The patient voice is becoming increasingly prominent across all stages of therapeutic innovation. It pervades research domains from funding and recruitment, to translation, care, and support. Advances in genom...

    Authors: Christina Q. Nguyen, Kristine Alba-Concepcion, Elizabeth E. Palmer, Jackie L. Scully, Nicole Millis and Michelle A. Farrar
    Citation: Orphanet Journal of Rare Diseases 2022 17:167
  5. Several common conditions have been widely recognised as risk factors for COVID-19 related death, but risks borne by people with rare diseases are largely unknown. Therefore, we aim to estimate the difference ...

    Authors: Huayu Zhang, Johan H. Thygesen, Ting Shi, Georgios V. Gkoutos, Harry Hemingway, Bruce Guthrie and Honghan Wu
    Citation: Orphanet Journal of Rare Diseases 2022 17:166
  6. Ågrenska, a Swedish national centre for rare diagnoses and health conditions, has arranged courses for families of children with rare diagnoses for over thirty years, and has experienced that the conditions of...

    Authors: Gunilla Jaeger, AnnCatrin Röjvik, Erland Hjelmquist, André Hansla and Kerstin W. Falkman
    Citation: Orphanet Journal of Rare Diseases 2022 17:165
  7. To investigate the clinical features of multicentric reticulohistiocytosis (MRH).

    Authors: Xiao-juan Zou, Lin Qiao, Feng Li, Hua Chen, Yun-jiao Yang, Dong Xu, Wen-Jie Zheng, Zhen-yu Jiang, Li Wang, Qing-jun Wu and Feng-Chun Zhang
    Citation: Orphanet Journal of Rare Diseases 2022 17:164
  8. To provide a comprehensive assessment of the total economic burden of rare diseases (RD) in the United States (U.S.) in 2019. We followed a prevalence-based approach that combined the prevalence of 379 RDs wit...

    Authors: Grace Yang, Inna Cintina, Anne Pariser, Elisabeth Oehrlein, Jamie Sullivan and Annie Kennedy
    Citation: Orphanet Journal of Rare Diseases 2022 17:163
  9. Rare diseases (RDs) are often complex, serious, chronic and multi-systemic conditions, associated with physical, sensory and intellectual disability. Patients require follow-up management from multiple medical...

    Authors: A. J. Ward, D. Murphy, R. Marron, V. McGrath, M. Bolz-Johnson, W. Cullen, A. Daly, O. Hardiman, A. Lawlor, S. A. Lynch, M. MacLachlan, J. McBrien, S. Ni Bhriain, J. J. O’Byrne, S. M. O’Connell, J. Turner…
    Citation: Orphanet Journal of Rare Diseases 2022 17:162
  10. Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening disorder. How to stratify high risk patients is one of the current challenges for the treatment of HLH. HLH patients usually fulfill multiple but ...

    Authors: Xun Li, Haipeng Yan, Ting Luo, Zhenghui Xiao, Ling Gong, Jiaotian Huang, Xinping Zhang, Mincui Zheng, Zhenya Yao, Ping Zang, Desheng Zhu and Xiulan Lu
    Citation: Orphanet Journal of Rare Diseases 2022 17:161
  11. Acute hepatic porphyrias (AHPs) are a family of four rare genetic diseases resulting from a deficiency in one of the enzymes involved in heme biosynthesis. AHP patients can experience potentially life-threaten...

    Authors: Matteo Marcacci, Andrea Ricci, Chiara Cuoghi, Stefano Marchini, Antonello Pietrangelo and Paolo Ventura
    Citation: Orphanet Journal of Rare Diseases 2022 17:160
  12. Deep learning methods have great potential to predict tumor characterization, such as histological diagnosis and genetic aberration. The objective of this study was to evaluate and validate the predictive perf...

    Authors: Yuhan Yang, Yin Zhou, Chen Zhou and Xuelei Ma
    Citation: Orphanet Journal of Rare Diseases 2022 17:158
  13. Conventional cost-effectiveness analysis—i.e., assessing pharmaceuticals through a cost per quality-adjusted life year (QALY) framework—originated from a societal commitment to maximize population health given...

    Authors: Maarten J. Postma, Declan Noone, Mark H. Rozenbaum, John A. Carter, Marc F. Botteman, Elisabeth Fenwick and Louis P. Garrison
    Citation: Orphanet Journal of Rare Diseases 2022 17:157
  14. The small patient populations inherent to rare genetic diseases present many challenges to the traditional drug development paradigm. One major challenge is generating sufficient data in early phase studies to...

    Authors: Lingshan Wang, Jie Wang, Ji Feng, Mary Doi, Salvatore Pepe, Michael Pacanowski and Robert N. Schuck
    Citation: Orphanet Journal of Rare Diseases 2022 17:156
  15. Gene therapy has the potential to change the life experience of people with haemophilia and family members. Few studies have sought to explore the impact of gene therapy on both individuals and families. The a...

    Authors: Simon Fletcher, Kathryn Jenner, Luke Pembroke, Michael Holland and Kate Khair
    Citation: Orphanet Journal of Rare Diseases 2022 17:155

    The Editorial to this article has been published in Orphanet Journal of Rare Diseases 2022 17:154

  16. Challenges faced by children diagnosed with a rare disease or complex condition and their family members are often characterized by disease-specific complexities, such as a prolonged diagnostic process, an unc...

    Authors: Rosanne M. Smits, Eline Vissers, Rosan te Pas, Noor Roebbers, Wout F. J. Feitz, Iris A. L. M. van Rooij, Ivo de Blaauw and Chris M. Verhaak
    Citation: Orphanet Journal of Rare Diseases 2022 17:153
  17. Gorham–Stout syndrome (GSS) is a rare disorder with various presentations and unpredictable prognoses. Previous understandings of GSS mainly focused on progressive bone destruction, while we identified a group...

    Authors: Hong Di, Bingqing Zhang, Na Xu, Yue Yin, Xinxin Han, Yun Zhang and Xuejun Zeng
    Citation: Orphanet Journal of Rare Diseases 2022 17:152
  18. Langerhans cell histiocytosis (LCH) is a rare myeloid neoplasm. A few LCH patients had Macrophage activation syndrome-hemophagocytic lymphohistiocytosis (MAS-HLH), a life-threatening, hyper-inflammatory syndro...

    Authors: Dong Wang, Xi-Hua Chen, Ang Wei, Chun-Ju Zhou, Xue Zhang, Hong-Hao Ma, Hong-Yun Lian, Li Zhang, Qing Zhang, Xiao-Tong Huang, Chan-Juan Wang, Ying Yang, Wei Liu, Tian-You Wang, Zhi-Gang Li, Lei Cui…
    Citation: Orphanet Journal of Rare Diseases 2022 17:151
  19. Haemophilia bears substantial humanistic and economic burden on children and their caregivers. Characterising the differential impact of severe versus moderate paediatric haemophilia is important for clinical ...

    Authors: Idaira Rodriguez-Santana, Pronabesh DasMahapatra, Tom Burke, Zalmai Hakimi, José Bartelt-Hofer, Jameel Nazir and Jamie O’Hara
    Citation: Orphanet Journal of Rare Diseases 2022 17:150
  20. Homozygous or compound heterozygous variants in the KLHL40 gene cause nemaline myopathy 8 (NEM8), a severe autosomal recessive muscle disorder characterized by prenatal polyhydramnios, fetal akinesia or hypokines...

    Authors: Haiming Yuan, Qingming Wang, Xiumei Zeng, Peiqing He, Wanfang Xu, Hongmei Guo, Yanhui Liu and Yangyang Lin
    Citation: Orphanet Journal of Rare Diseases 2022 17:149
  21. The lifelong nature of haemophilia makes patient-centred and societal assessments of its impact important to clinical and policy decisions. Quantifying the humanistic and economic burden by severity is key to ...

    Authors: Idaira Rodriguez-Santana, Pronabesh DasMahapatra, Tom Burke, Zalmai Hakimi, José Bartelt-Hofer, Jameel Nazir and Jamie O’Hara
    Citation: Orphanet Journal of Rare Diseases 2022 17:148
  22. Epidermolysis bullosa (EB) is a severe hereditary disease characterized by defective epithelial adhesion causing mucocutaneous fragility. The major types are EB simplex (EBS), junctional EB (JEB), dystrophic E...

    Authors: Maria Rosaria Marchili, Giulia Spina, Marco Roversi, Cristina Mascolo, Elisabetta Pentimalli, Marialuisa Corbeddu, Andrea Diociaiuti, Maya El Hachem and Alberto Villani
    Citation: Orphanet Journal of Rare Diseases 2022 17:147
  23. Rare diseases affect > 400 million people globally with a disproportionate burden falling on children, resulting in high morbidity and mortality rates. Affected individuals in some under-resourced countries ha...

    Authors: I. C. Verma, A. El-Beshlawy, A. Tylki-Szymańska, A. Martins, Y.-L. Duan, T. Collin-Histed, M. Schoneveld van der Linde, R. Mansour, V. C. Dũng and Pramod K. Mistry
    Citation: Orphanet Journal of Rare Diseases 2022 17:87
  24. Inherited retinal dystrophies describe a heterogeneous group of retinal diseases that lead to the irreversible degeneration of rod and cone photoreceptors and eventual blindness. Recessive loss-of-function mut...

    Authors: Jin Kyun Oh, José G. Vargas Del Valle, Jose Ronaldo Lima de Carvalho Jr, Young Joo Sun, Sarah R. Levi, Joseph Ryu, Jing Yang, Takayuki Nagasaki, Andres Emanuelli, Nailyn Rasool, Rando Allikmets, Janet R. Sparrow, Natalio J. Izquierdo, Jacque L. Duncan, Vinit B. Mahajan and Stephen H. Tsang
    Citation: Orphanet Journal of Rare Diseases 2022 17:146
  25. Limited real-world data from routine clinical care are available on the safety and effectiveness of treatment with taliglucerase alfa in patients with Gaucher disease (GD).

    Authors: Lina Titievsky, Tilman Schuster, Ronnie Wang, Muhammad Younus, Andrew Palladino, Kabir Quazi, Michael P. Wajnrajch, Betina Hernandez, Pamela S. Becker, Neal J. Weinreb, Christina Chambers, Roy Mansfield, Louise Taylor, Li-Jung Tseng and Paige Kaplan
    Citation: Orphanet Journal of Rare Diseases 2022 17:145
  26. Authors: Lijia Huang, Jodi Warman-Chardon, Melissa T. Carter, Kathie L. Friend, Tracy E. Dudding, Jeremy Schwartzentruber, Ruobing Zou, Peter W. Schofield, Stuart Douglas, Dennis E. Bulman and Kym M. Boycott
    Citation: Orphanet Journal of Rare Diseases 2022 17:143

    The original article was published in Orphanet Journal of Rare Diseases 2012 7:67

  27. Congenital anomalies are the leading cause of perinatal, neonatal and infant mortality in developed countries. Large long-term follow-up studies investigating survival beyond the first year of life in children...

    Authors: Alessio Coi, Michele Santoro, Anna Pierini, Judith Rankin, Svetlana V. Glinianaia, Joachim Tan, Abigail-Kate Reid, Ester Garne, Maria Loane, Joanne Given, Elisa Ballardini, Clara Cavero-Carbonell, Hermien E. K. de Walle, Miriam Gatt, Laura García-Villodre, Mika Gissler…
    Citation: Orphanet Journal of Rare Diseases 2022 17:142
  28. Consequences of distal renal tubular acidosis (dRTA) on growth, bone and kidney, sometimes associated with hearing loss, may significantly affect quality of life (QoL). This descriptive qualitative study explo...

    Authors: Michaël Acquadro, Alexia Marrel, Maria A. Manso-Silván, Catherine Guittet, Sophie Joukoff and Aurélia Bertholet-Thomas
    Citation: Orphanet Journal of Rare Diseases 2022 17:141
  29. There are more than 7000 rare diseases, most of which have no specific treatment. Disease profiles, such as prevalence and natural history, among the population of a specific country are essential in determini...

    Authors: Kota Ninomiya and Masahiro Okura
    Citation: Orphanet Journal of Rare Diseases 2022 17:140
  30. Skeletal deformity is characterized by an abnormal anatomical structure of bone and cartilage. In our previous studies, we have found that a substantial proportion of patients with skeletal deformity could be ...

    Authors: Lian Liu, Liying Sun, Yujun Chen, Muchuan Wang, Chenxi Yu, Yingzhao Huang, Sen Zhao, Huakang Du, Shaoke Chen, Xin Fan, Wen Tian, Zhihong Wu, Guixing Qiu, Terry Jianguo Zhang and Nan Wu
    Citation: Orphanet Journal of Rare Diseases 2022 17:139
  31. Classic Galactosemia is a rare, autosomal recessive disease in which galactose is not metabolized properly due to severe deficiency/absence of the galactose-1-phosphate uridylyltransferase (GALT) enzyme, conve...

    Authors: Jason A. Randall, Carolyn Sutter, Stella Wang, Evan Bailey, Lydia Raither, Riccardo Perfetti, Shoshana Shendelman and Claire Burbridge
    Citation: Orphanet Journal of Rare Diseases 2022 17:138
  32. The natural history and genotype–phenotype correlation of Pelizaeus–Merzbacher disease (PMD) of Chinese patients has been rarely reported.

    Authors: Ruoyu Duan, Haoran Ji, Huifang Yan, Junyu Wang, Yu Zhang, Qian Zhang, Dongxiao Li, Binbin Cao, Qiang Gu, Ye Wu, Yuwu Jiang, Ming Li and Jingmin Wang
    Citation: Orphanet Journal of Rare Diseases 2022 17:137
  33. Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders caused by defects in genes coding for different lysosomal enzymes which degrade glycosaminoglycans. Impaired lysosomal degradation causes ...

    Authors: Anna Tylki-Szymańska, Zsuzsanna Almássy, Violetta Christophidou-Anastasiadou, Daniela Avdjieva-Tzavella, Ingeborg Barisic, Rimante Cerkauskiene, Goran Cuturilo, Maja Djiordjevic, Zoran Gucev, Anna Hlavata, Beata Kieć-Wilk, Martin Magner, Ivan Pecin, Vasilica Plaiasu, Mira Samardzic, Dimitrios Zafeiriou…
    Citation: Orphanet Journal of Rare Diseases 2022 17:136
  34. Propionic acidemia is a severe inherited metabolic disorder, caused by the deficiency of propionyl-CoA carboxylase which encoded by the PCCA and PCCB genes. The aim of the study was to investigate the clinical fe...

    Authors: Yi Liu, Zhehui Chen, Hui Dong, Yuan Ding, Ruxuan He, Lulu Kang, Dongxiao Li, Ming Shen, Ying Jin, Yao Zhang, Jinqing Song, Yaping Tian, Yongtong Cao, Desheng Liang and Yanling Yang
    Citation: Orphanet Journal of Rare Diseases 2022 17:135
  35. Congenital Disorders of Glycosylation (CDG) are a complex family of rare metabolic diseases. Robust clinical data collection faces many hurdles, preventing full CDG biological and clinical comprehension. Web-b...

    Authors: Rita Francisco, Sandra Brasil, Carlota Pascoal, Jaak Jaeken, Merell Liddle, Paula A. Videira and Vanessa dos Reis Ferreira
    Citation: Orphanet Journal of Rare Diseases 2022 17:134
  36. Genetic investigations of inherited neuromuscular disorders in Africans, have been neglected. We aimed to summarise the published data and comment on the genetic evidence related to inherited neuropathies (Cha...

    Authors: Amokelani C. Mahungu, Nomakhosazana Monnakgotla, Melissa Nel and Jeannine M. Heckmann
    Citation: Orphanet Journal of Rare Diseases 2022 17:133
  37. Even though a plethora of systemic therapies have been proposed for necrobiotic xanthogranuloma (NXG), there is no systematic review on this topic in literature.

    Authors: Lisa Steinhelfer, Thomas Kühnel, Herbert Jägle, Stephanie Mayer, Sigrid Karrer, Frank Haubner and Stephan Schreml
    Citation: Orphanet Journal of Rare Diseases 2022 17:132
  38. MECP2 duplication syndrome (MDS) is a rare, X-linked, neurodevelopmental disorder caused by a duplication of the methyl-CpG-binding protein 2 (MECP2) gene—a gene in which loss-of-function mutations lead to Rett s...

    Authors: Daniel Ta, Jenny Downs, Gareth Baynam, Andrew Wilson, Peter Richmond and Helen Leonard
    Citation: Orphanet Journal of Rare Diseases 2022 17:131
  39. Patient journey maps are increasingly used as a tool that enables healthcare providers to refine their service provision to best meet patient needs. We developed a cervical dystonia patient journey map (CDPJM)...

    Authors: Monika Benson, Alberto Albanese, Kailash P. Bhatia, Pascale Cavillon, Lorraine Cuffe, Kathrin König, Carola Reinhard and Holm Graessner
    Citation: Orphanet Journal of Rare Diseases 2022 17:130
  40. Cystic fibrosis (CF) is a common, life-threatening genetic disease in Caucasians but rarely reported in Chinese population. The prevalence and population-specific genetic spectrum of CF in China needs to be sy...

    Authors: Qi Ni, Xiang Chen, Ping Zhang, Lin Yang, Yulan Lu, Feifan Xiao, Bingbing Wu, Huijun Wang, Wenhao Zhou and Xinran Dong
    Citation: Orphanet Journal of Rare Diseases 2022 17:129
  41. Aromatic l-amino acid decarboxylase (AADC) deficiency is a rare neurological disorder associated with a range of symptoms and functional impairments. The aim of this study was to describe the experience of AADC d...

    Authors: Kate Williams, Hanna Skrobanski, Katharina Buesch and Sarah Acaster
    Citation: Orphanet Journal of Rare Diseases 2022 17:128
  42. Glycogen storage diseases (GSDs) are inherited glycogen metabolic disorders which have various subtypes. GSDs of type I, III, IV, VI, and IX show liver involvement and are considered as hepatic types of GSDs. ...

    Authors: Zahra Beyzaei, Alireza Shamsaeefar, Kurosh Kazemi, Saman Nikeghbalian, Ali Bahador, Masoud Dehghani, Seyed-Ali Malekhosseini and Bita Geramizadeh
    Citation: Orphanet Journal of Rare Diseases 2022 17:127
  43. Legg–Calvé–Perthes Disease (LCPD) is a necrosis of the femoral head which affects the range of motion of the hips. Its incidence is variable, ranging from 0.4/100,000 to 29.0/ 100,000 children. Although LCPD w...

    Authors: Armando O. Rodríguez-Olivas, Edgar Hernández-Zamora and Elba Reyes-Maldonado
    Citation: Orphanet Journal of Rare Diseases 2022 17:125
  44. Tuberous sclerosis complex (TSC) results in neurodevelopmental phenotypes, benign tumors, and cysts throughout the body. Recent studies show numerous rare findings in TSC. Guidelines suggest routine abdominal ...

    Authors: David M. Ritter, Bailey K. Fessler, Daniel Ebrahimi-Fakhari, Jun Wei, David N. Franz, Darcy A. Krueger, Andrew T. Trout and Alexander J. Towbin
    Citation: Orphanet Journal of Rare Diseases 2022 17:124
  45. Legg–Calvé–Perthes disease (LCPD) is the avascular osteonecrosis of the proximal femoral epiphysis. It is a rare disease of unclear etiology in children, although alterations in coagulation or the collagen gen...

    Authors: José Guillermo Buendía-Pazarán, Edgar Hernández-Zamora, Armando O. Rodríguez-Olivas, Leonora Casas-Ávila, Margarita Valdés-Flores and Elba Reyes-Maldonado
    Citation: Orphanet Journal of Rare Diseases 2022 17:123
  46. In pediatric hereditary cystic kidney diseases, epithelial cell defects mostly result from rare, autosomal recessively inherited pathogenic variants in genes encoding proteins of the cilia-centrosome complex. ...

    Authors: Wolfgang H. Ziegler, Sarah Lüdiger, Fatima Hassan, Margarita E. Georgiadis, Kathrin Swolana, Amrit Khera, Arne Mertens, Doris Franke, Kai Wohlgemuth, Mareike Dahmer-Heath, Jens König, Claudia Dafinger, Max C. Liebau, Metin Cetiner, Carsten Bergmann, Birga Soetje…
    Citation: Orphanet Journal of Rare Diseases 2022 17:122