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  1. Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) is a rare autosomal recessive systemic autoimmune disease caused by mutations in the autoimmune regulator (AIRE) gene. Incidence of...

    Authors: Aria Setoodeh, Samareh Panjeh-Shahi, Fariba Bahmani, Fatemeh Vand-Rajabpour, Nazanin Jalilian, Fatemeh Sayarifard, Farzaneh Abbasi, Azadeh Sayarifard, Parastoo Rostami, Nima Parvaneh, Haleh Akhavan-Niaki, Mohamadreza Ahmadifard and Mina Tabrizi
    Citation: Orphanet Journal of Rare Diseases 2022 17:10
  2. Disease-specific patient-reported outcome measures (PROMs) are fundamental to understanding the impact on, and expectations of, patients with genetic disorders, and can facilitate constructive and educated con...

    Authors: Deborah Elstein, Nadia Belmatoug, Patrick Deegan, Özlem Göker-Alpan, Derralynn A. Hughes, Ida Vanessa D. Schwartz, Neal Weinreb, Nicola Bonner, Charlotte Panter, Donna Fountain, Andrew Lenny, Louise Longworth, Rachael Miller, Koonal Shah, Jörn Schenk, Rohini Sen…
    Citation: Orphanet Journal of Rare Diseases 2022 17:9
  3. Hereditary Haemorrhagic Telangiectasia (HHT) is an autosomal dominant disorder characterized by several clinical symptoms including epistaxis, arteriovenous malformations (AVM), and telangiectasia. In 2018, Eu...

    Authors: Troels Hvelplund, Bibi Lange, Susanne Djernes Bird, Malene Korsholm and Anette Drøhse Kjeldsen
    Citation: Orphanet Journal of Rare Diseases 2022 17:8
  4. Recent advances in technology and expanding therapeutic opportunities in neuromuscular disorders has resulted in greater interest in and development of remote assessments. Over the past year, the rapid and abr...

    Authors: Jacqueline Montes, Katy J. Eichinger, Amy Pasternak, Cara Yochai and Kristin J. Krosschell
    Citation: Orphanet Journal of Rare Diseases 2022 17:5
  5. Achondroplasia (ACH), the most common form of disproportionate short stature, is caused by a pathogenic variant in the fibroblast growth factor receptor 3 gene. Recent advances in drug therapy for ACH have hig...

    Authors: Virginia Fano, Chong A. Kim, Pablo Rosselli, Regina El Dib, Renée Shediac, Tatiana Magalhães, Debora Mesojedovas and Juan Llerena Jr
    Citation: Orphanet Journal of Rare Diseases 2022 17:4
  6. Information about the specific regulatory environment of orphan drugs is scarce and inconsistent. Uncertainties surrounding the postmarketing long-term safety of orphan drugs remain. This study aimed to evalua...

    Authors: Min Fan, Adrienne Y. L. Chan, Vincent K. C. Yan, Xinning Tong, Lauren K. W. Lau, Eric Y. F. Wan, Eliza Y. T. Tam, Patrick Ip, Terry Y. Lum, Ian C. K. Wong and X. Li
    Citation: Orphanet Journal of Rare Diseases 2022 17:3
  7. The belief that genetics plays a major role in the pathogenesis of congenital heart defects (CHD) has grown popular among clinicians. Although some studies have focused on the genetic testing of foetuses with ...

    Authors: Fengying Lu, Peng Xue, Bin Zhang, Jing Wang, Bin Yu and Jianbin Liu
    Citation: Orphanet Journal of Rare Diseases 2022 17:2
  8. The development of new therapies may rely on the conduct of human experimentation as well as later clinical trials of therapeutic interventions. Ethical considerations seek to protect the patient from risk but...

    Authors: Gilbert Thomas-Black, Andrada Dumitrascu, Hector Garcia-Moreno, Julie Vallortigara, Julie Greenfield, Barry Hunt, Susan Walther, Mackenzie Wells, David R. Lynch, Hugh Montgomery and Paola Giunti
    Citation: Orphanet Journal of Rare Diseases 2022 17:1
  9. This letter discusses an initiative that considered the rights of a child living with a rare disease in the context of the United Nations Convention on the Rights of the Child (UNCRC). The aim was to inform la...

    Authors: Lisa Matthews, Vaughan Chin, Marisa Taliangis, Amanda Samanek and Gareth Baynam
    Citation: Orphanet Journal of Rare Diseases 2021 16:523
  10. Achondroplasia is the most common genetic skeletal disorder causing disproportionate short stature/dwarfism. Common additional features include spinal stenosis, midface retrusion, macrocephaly and a generalize...

    Authors: Julie E. Hoover-Fong, Kerry J. Schulze, Adekemi Y. Alade, Michael B. Bober, Ethan Gough, S. Shahrukh Hashmi, Jacqueline T. Hecht, Janet M. Legare, Mary Ellen Little, Peggy Modaff, Richard M. Pauli, David F. Rodriguez-Buritica, Maria E. Serna, Cory Smid, Chengxin Liu and John McGready
    Citation: Orphanet Journal of Rare Diseases 2021 16:522
  11. Real-world studies of the burden of severe haemophilia B in the context of recent therapeutic advances such as extended half-life (EHL) factor IX (FIX) products are limited. We analysed data from the recent CH...

    Authors: Tom Burke, Sohaib Asghar, Jamie O’Hara, Margaret Chuang, Eileen K. Sawyer and Nanxin Li
    Citation: Orphanet Journal of Rare Diseases 2021 16:521
  12. Recently published European Society for Phenylketonuria (ESPKU) guidelines have recommended a lifelong diet with phenylalanine (Phe) control ≤ 600 μmol/L for phenylketonuria (PKU) patients. This study aimed to...

    Authors: George Altman, Kamran Hussain, Diane Green, Boyd J. G. Strauss and Gisela Wilcox
    Citation: Orphanet Journal of Rare Diseases 2021 16:520
  13. Gaucher disease (GD) is a rare lysosomal storage disorder, characterized by hepatosplenomegaly and pancytopenia, with or without neurologic involvement. The disorder is categorized into three phenotypes: GD ty...

    Authors: Tim Phetthong, Thipwimol Tim-Aroon, Arthaporn Khongkraparn, Saisuda Noojarern, Chulaluck Kuptanon, Khunton Wichajarn, Achara Sathienkijkanchai, Kanya Suphapeetiporn, Pimlak Charoenkwan, Adisak Tantiworawit, Naruwan Noentong and Duangrurdee Wattanasirichaigoon
    Citation: Orphanet Journal of Rare Diseases 2021 16:519
  14. Fabry disease (FD) is a rare genetic disorder characterized by glycosphingolipid accumulation and progressive damage across multiple organ systems. Due to its heterogeneous presentation, the condition is likel...

    Authors: John L. Jefferies, Alison K. Spencer, Heather A. Lau, Matthew W. Nelson, Joseph D. Giuliano, Joseph W. Zabinski, Costas Boussios, Gary Curhan, Richard E. Gliklich and David G. Warnock
    Citation: Orphanet Journal of Rare Diseases 2021 16:518
  15. Systemic sclerosis (SSc) is a rare detrimental disease warranting global research efforts. Evaluating how socio-economic factors impact country research output on SSc could help to identify solutions advancing...

    Authors: Wei Guo, Zeyu Zhou, Yinhe Liang, Chuanhui Xu, Lin Zeng, Zhiyong Dong and Rong Mu
    Citation: Orphanet Journal of Rare Diseases 2021 16:517
  16. Pompe disease is an autosomal recessive inherited metabolic disorder caused by a deficiency of the acid α-glucosidase (GAA). Pompe disease manifests as an accumulation of lysosomal glycogen in the skeletal and...

    Authors: Takaaki Sawada, Jun Kido, Keishin Sugawara, Ken Momosaki, Shinichiro Yoshida, Kanako Kojima-Ishii, Takahito Inoue, Shirou Matsumoto, Fumio Endo, Shouichi Ohga, Shinichi Hirose and Kimitoshi Nakamura
    Citation: Orphanet Journal of Rare Diseases 2021 16:516
  17. China has made tremendous progresses in serving the needs of its people living with rare diseases in the past decade, especially over the last 5 years. The Chinese government’s systematic approach included a s...

    Authors: Jian Guo, Peng Liu, Limeng Chen, Haohan Lv, Jie Li, Weichao Yu, Kaifeng Xu, Yicheng Zhu, Zhihong Wu, Zhuang Tian, Ye Jin, Rachel Yang, Weihong Gu and Shuyang Zhang
    Citation: Orphanet Journal of Rare Diseases 2021 16:515
  18. Inherited retinal diseases (IRDs) are a diverse group of degenerative diseases of the retina that can lead to significant reduction in vision and blindness. Because of the considerable phenotypic overlap among...

    Authors: Byron L. Lam, Bart P. Leroy, Graeme Black, Tuyen Ong, Dan Yoon and Karmen Trzupek
    Citation: Orphanet Journal of Rare Diseases 2021 16:514
  19. Thoracic aortic aneurysm and dissection (TAAD) is a hidden-onset but life-threatening disorder with high clinical variability and genetic heterogeneity. In recent years, an increasing number of genes have been...

    Authors: Guoyan Zhu, Mingyao Luo, Qianlong Chen, Yinhui Zhang, Kun Zhao, Yujing Zhang, Chang Shu, Hang Yang and Zhou Zhou
    Citation: Orphanet Journal of Rare Diseases 2021 16:513
  20. While classified as a rare condition, a congenital disorder of the corpus callosum (DCC) is one of the most commonly identified brain anomalies in newborns, occurring in 1:4000 live births. Advances in imaging...

    Authors: Maree Maxfield, Monica S. Cooper, Anne Kavanagh, Alexandra Devine and Liz Gill Atkinson
    Citation: Orphanet Journal of Rare Diseases 2021 16:512
  21. Hereditary hemorrhagic telangiectasia (HHT) is a rare genetic disease characterized by a deregulated neo-angiogenesis. Besides a mainly vascular phenotype (muco-cutaneous telangiectases, arteriovenous malforma...

    Authors: Alexandre Guilhem, Pierre Portalès, Sophie Dupuis-Girod, Sophie Rivière and Thierry Vincent
    Citation: Orphanet Journal of Rare Diseases 2021 16:511
  22. New opportunities have arisen for development of therapies for rare diseases with the increased focus and progress in the field. However, standardised framework integrating individual initiatives has not been ...

    Authors: Mattias Rudebeck, Ciarán Scott, Nicholas P. Rhodes, Christa van Kan, Birgitta Olsson, Mohammed Al-sbou, Anthony K. Hall, Nicolas Sireau and Lakshminarayan R. Ranganath
    Citation: Orphanet Journal of Rare Diseases 2021 16:510
  23. Fabry disease (FD) remains poorly recognized, especially in children in China. Considering the diversity and nonspecific clinical manifestations accompanying with life-threatening aspect of this disease, metho...

    Authors: Qian Shen, Jialu Liu, Jing Chen, Shuizheng Zhou, Yi Wang, Lifei Yu, Li Sun, Liuhui Wang, Bingbing Wu, Fang Liu, Yun Cao, Ying Huang, Jianshe Wang, Chenhao Yang, Daqian Zhu, Yangyang Ma…
    Citation: Orphanet Journal of Rare Diseases 2021 16:509
  24. Observational studies have suggested that telomere length is associated with amyotrophic lateral sclerosis (ALS). However, whether this association is causal remains unclear. In this study, we aimed to explore...

    Authors: Kailin Xia, Linjing Zhang, Gan Zhang, Yajun Wang, Tao Huang and Dongsheng Fan
    Citation: Orphanet Journal of Rare Diseases 2021 16:508
  25. Wolman disease (WD), the rapidly progressive phenotype of lysosomal acid lipase (LAL) deficiency, presents in neonates with failure to thrive and hepatosplenomegaly, and leads to multi-organ failure and death ...

    Authors: Tanguy Demaret, Florence Lacaille, Camille Wicker, Jean-Baptiste Arnoux, Juliette Bouchereau, Claire Belloche, Cyril Gitiaux, David Grevent, Christine Broissand, Dalila Adjaoud, Marie-Thérèse Abi Warde, Dominique Plantaz, Soumeya Bekri, Pascale de Lonlay and Anaïs Brassier
    Citation: Orphanet Journal of Rare Diseases 2021 16:507
  26. Authors: Junqi Feng, Chenxi Yang, Ling Zhu, Yuchen Zhang, Xiaoxu Zhao, Chi Chen, Qi-xing Chen, Qiang Shu, Pingping Jiang and Fan Tong
    Citation: Orphanet Journal of Rare Diseases 2021 16:505

    The original article was published in Orphanet Journal of Rare Diseases 2021 16:392

  27. FLNA Loss-of-Function (LoF) causes periventricular nodular heterotopia type 1 (PVNH1), an acknowledged cause of seizures of various types. Neurological symptoms are inconstant, and cardiovascular (CV) defects or ...

    Authors: Clarisse Billon, Salma Adham, Natalia Hernandez Poblete, Anne Legrand, Michael Frank, Laurent Chiche, Stephane Zuily, Karelle Benistan, Laurent Savale, Khaoula Zaafrane-Khachnaoui, Anne-Claire Brehin, Laurence Bal, Tiffany Busa, Mélanie Fradin, Chloé Quelin, Bertrand Chesneau…
    Citation: Orphanet Journal of Rare Diseases 2021 16:504
  28. Primary carnitine deficiency (PCD) is an autosomal recessive disorder of carnitine transportation that leads to impaired fatty acid oxidation. Large-scale studies on newborn screening (NBS) for PCD are limited...

    Authors: Yiming Lin, Bangbang Lin, Yanru Chen, Zhenzhu Zheng, Qingliu Fu, Weihua Lin and Weifeng Zhang
    Citation: Orphanet Journal of Rare Diseases 2021 16:503

    The Correction to this article has been published in Orphanet Journal of Rare Diseases 2022 17:21

  29. Gaucher disease (GD) is caused by reduced lysosomal enzyme β-glucocerebrosidase activity. Heterogeneous genotypes and phenotypes have been observed within GD types and across ethnicities. Enzyme replacement th...

    Authors: Rieko Sagara, Masahide Ishigaki, Manami Otsuka, Kei Murayama, Hiroyuki Ida and Jovelle Fernandez
    Citation: Orphanet Journal of Rare Diseases 2021 16:502
  30. Mucopolysaccharidosis II (MPS II) is a rare lysosomal storage disease characterized by cognitive impairment in most patients. This post hoc analysis evaluated changes in cognitive function, adaptive behavior a...

    Authors: Karen S. Yee, Yanyu Wu, Magdalena Harrington and Susan E. Waisbren
    Citation: Orphanet Journal of Rare Diseases 2021 16:501
  31. Research about pediatric patients’ perspective on mucopolysaccharidosis type VI (MPS VI) and its impact on daily life is limited. We aimed to identify the disease concepts of interest that most impact function...

    Authors: Beth Leiro, Dawn Phillips, Melanie Duiker, Paul Harmatz and Sharon Charles
    Citation: Orphanet Journal of Rare Diseases 2021 16:500
  32. Bleeding anomalies have been reported in patients affected by Noonan syndrome. No study has been performed in patients with molecularly confirmed RASopathy. We aimed to characterize the frequency and types of ...

    Authors: Francesca Di Candia, Valeria Marchetti, Ferdinando Cirillo, Alessandro Di Minno, Carmen Rosano, Stefano Pagano, Maria Anna Siano, Mariateresa Falco, Antonia Assunto, Giovanni Boccia, Gerardo Magliacane, Valentina Pinna, Alessandro De Luca, Marco Tartaglia, Giovanni Di Minno, Pietro Strisciuglio…
    Citation: Orphanet Journal of Rare Diseases 2021 16:499
  33. COVID-19 has affected our society at large, particularly vulnerable groups, such as children suffering from rare diseases and their parents. However, the psychosocial influences of COVID-19 on these have yet t...

    Authors: Mareike Fuerboeter, Johannes Boettcher, Claus Barkmann, Holger Zapf, Rojin Nazarian, Silke Wiegand-Grefe, Konrad Reinshagen and Michael Boettcher
    Citation: Orphanet Journal of Rare Diseases 2021 16:498
  34. Rare diseases occur in early childhood and have a major impact on the quality of life of the affected children and their families. Their need for psychosocial support is considerable, but psychosocial care in ...

    Authors: Stefanie Witt, Kaja Kristensen, Silke Wiegand-Grefe, Johannes Boettcher, Janika Bloemeke, Christina Wingartz, Monika Bullinger and Julia Quitmann
    Citation: Orphanet Journal of Rare Diseases 2021 16:497
  35. The left ventricular noncompaction cardiomyopathy (LVNC) is a rare subtype of cardiomyopathy associated with a high risk of heart failure (HF), thromboembolism, arrhythmia, and sudden cardiac death.

    Authors: Yubi Lin, Jiana Huang, Zhiling Zhu, Zuoquan Zhang, Jianzhong Xian, Zhe Yang, Tingfeng Qin, Linxi Chen, Jingmin Huang, Yin Huang, Qiaoyun Wu, Zhenyu Hu, Xiufang Lin and Geyang Xu
    Citation: Orphanet Journal of Rare Diseases 2021 16:496
  36. A patient reported outcome (PRO) instrument with evidence of validity and reliability for assessing symptoms of eosinophilic gastritis (EG) and eosinophilic gastroenteritis (EGE) is needed to measure treatment...

    Authors: Calvin N. Ho, Sean O’Quinn, Julie Bailey, Oren Meyers, Ashley F. Slagle, Evan S. Dellon and Catherine Datto
    Citation: Orphanet Journal of Rare Diseases 2021 16:495
  37. The TRANSLATE-NAMSE project with the strengthening of the centers for rare diseases with their affiliation to the European Reference Networks was a major step towards the implementation of the German National ...

    Authors: D. Druschke, F. Krause, G. Müller, J. Scharfe, G. F. Hoffmann and J. Schmitt
    Citation: Orphanet Journal of Rare Diseases 2021 16:494
  38. Niemann-Pick disease type C (NPC) is a debilitating condition that impacts patients’ and caregivers’ quality of life (QOL) and reduces the patient’s life expectancy. Since there is little qualitative research ...

    Authors: Eugen Mengel, Marc C. Patterson, Michael Chladek, Christina Guldberg, Christine í Dali, Tara Symonds, Lucy Lloyd-Price, Toni Mathieson, Joslyn Crowe and Claire Burbridge
    Citation: Orphanet Journal of Rare Diseases 2021 16:493
  39. Hereditary gingival fibromatosis (HGF) is a rare condition characterized by slowly progressive overgrowth of the gingiva. The severity of overgrowth may differ from mild causing phonetic and masticatory issues...

    Authors: Karolina Strzelec, Agata Dziedzic, Katarzyna Łazarz-Bartyzel, Aleksander M. Grabiec, Ewa Gutmajster, Tomasz Kaczmarzyk, Paweł Plakwicz and Katarzyna Gawron
    Citation: Orphanet Journal of Rare Diseases 2021 16:492
  40. Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia (DIPNECH) is characterized by multifocal proliferation of pulmonary neuroendocrine cells. On chest CT, DIPNECH exhibits bilateral pulmonary nodules ...

    Authors: Bilal F. Samhouri, Chi Wan Koo, Eunhee S. Yi and Jay H. Ryu
    Citation: Orphanet Journal of Rare Diseases 2021 16:490
  41. Low-grade optic pathway glioma (OPG) develops in 15–20% of children with neurofibromatosis type 1 (NF1). OPGs are symptomatic in 30–50% and one-third of these require treatment. A few studies have suggested fe...

    Authors: Anne Munk Henning, Mette Møller Handrup, Sia Mariann Kjeldsen, Dorte Ancher Larsen and Cecilie Ejerskov
    Citation: Orphanet Journal of Rare Diseases 2021 16:489
  42. Cornelia de Lange (CdLS), Fragile X (FXS) and Rubinstein–Taybi syndromes (RTS) evidence unique profiles of autistic characteristics. To delineate these profiles further, the development of early social cogniti...

    Authors: Katherine Ellis, Jo Moss, Chrysi Stefanidou, Chris Oliver and Ian Apperly
    Citation: Orphanet Journal of Rare Diseases 2021 16:488
  43. Person-reported outcomes measurement development for rare diseases has lagged behind that of more common diseases. In studies of caregivers of patients with rare diseases, one relies on proxy report to charact...

    Authors: Carolyn E. Schwartz, Roland B. Stark, David Cella, Katrina Borowiec, Katherine L. Gooch and Ivana F. Audhya
    Citation: Orphanet Journal of Rare Diseases 2021 16:487
  44. Mucopolysaccharidosis type III (MPS III) or Sanfilippo syndrome is a neurodegenerative disease caused by the accumulation of mucopolysaccharides in the body. As the symptoms are wide ranging, it is a challenge...

    Authors: P. Pérez-Núñez, E. Lázaro, I. Amayra, J. F. López-Paz, P. Caballero, O. Martínez, M. Pérez, S. Berrocoso, M. Al-Rashaida, M. García, A. A. Rodríguez and P. M. Luna
    Citation: Orphanet Journal of Rare Diseases 2021 16:486
  45. The aim of this case control study was to evaluate the prognostic value of automatically quantified retinal vessel tortuosity from fundus images and vessel density from OCT-A in Fabry disease and to evaluate t...

    Authors: Yevgeniya Atiskova, Jan Wildner, Martin Stephan Spitzer, Charlotte Aries, Nicole Muschol and Simon Dulz
    Citation: Orphanet Journal of Rare Diseases 2021 16:485
  46. ABCB11 variations are responsible for a spectrum of rare liver diseases, including progressive familial intrahepatic cholestasis type 2 (PFIC2) and intrahepatic cholestasis of pregnancy (ICP). Current medical tre...

    Authors: Elodie Mareux, Martine Lapalus, Amel Ben-Saad, Isabelle Callebaut, Thomas Falguières, Emmanuel Gonzales and Emmanuel Jacquemin
    Citation: Orphanet Journal of Rare Diseases 2021 16:484
  47. Hepatic arteriovenous malformations (AVMs) in hereditary hemorrhagic telangiectasia (HHT) patients are most commonly hepatic artery to hepatic venous shunts which can result in high-output heart failure. This ...

    Authors: Lucas R. Cusumano, Joseph A. Tesoriero, Craig B. Wilsen, James Sayre, Matthew Quirk and Justin P. McWilliams
    Citation: Orphanet Journal of Rare Diseases 2021 16:478
  48. Insufficient metabolic control during pregnancy of mothers with phenylketonuria (PKU) leads to maternal PKU syndrome, a severe embryo-/fetopathy. Since maintaining or reintroducing the strict phenylalanine (Ph...

    Authors: Carmen Rohde, Alena Gerlinde Thiele, Christoph Baerwald, Rudolf Georg Ascherl, Dinah Lier, Ulrike Och, Christina Heller, Alexandra Jung, Kathrin Schönherr, Monika Joerg-Streller, Simone Luttat, Sabine Matzgen, Tina Winkler, Stefanie Rosenbaum-Fabian, Oxana Joos and Skadi Beblo
    Citation: Orphanet Journal of Rare Diseases 2021 16:477