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  1. During the coronavirus disease-19 (COVID-19) pandemic, vulnerable populations must be identified to prevent increased mortality. Fabry disease (FD) is a rare X-linked lysosomal storage disorder leading to chro...

    Authors: Christina Bothou, Lanja Saleh, Arnold von Eckardstein, Felix Beuschlein and Albina Nowak
    Citation: Orphanet Journal of Rare Diseases 2022 17:250
  2. Osteogenesis imperfecta (OI) is a rare congenital disorder of the skeletal system, inflicting debilitating physical and psychological distress on patients and caregivers. Over the decades, much effort has been...

    Authors: Peikai Chen, Zhijia Tan, Anmei Qiu, Shijie Yin, Yapeng Zhou, Zhongxin Dong, Yan Qiu, Jichun Xu, Kangsen Li, Lina Dong, Hiu Tung Shek, Jingwen Liu, Eric H. K. Yeung, Bo Gao, Kenneth Man Chee Cheung and Michael Kai-Tsun To
    Citation: Orphanet Journal of Rare Diseases 2022 17:249
  3. Hyperinsulinism hyperammonemia (HI/HA) syndrome is caused by activating mutations in GLUD1, encoding glutamate dehydrogenase (GDH). Atypical absence seizures and neuropsychological disorders occur at high rates i...

    Authors: Elizabeth Rosenfeld, Ravi Prakash Reddy Nanga, Alfredo Lucas, Andrew Y. Revell, Allison Thomas, Nina H. Thomas, David R. Roalf, Russel T. Shinohara, Ravinder Reddy, Kathryn A. Davis and Diva D. De León
    Citation: Orphanet Journal of Rare Diseases 2022 17:248
  4. X-linked early-onset osteoporosis, caused by mutations in plastin3 (PLS3), is an extremely rare disease characterized by low bone mineral density (BMD) and recurrent osteoporotic fractures. There is limited in...

    Authors: Zhichong Wu, Zhenhua Feng, Xiufen Zhu, Zhicheng Dai, Kaixing Min, Yong Qiu, Long Yi, Leilei Xu and Zezhang Zhu
    Citation: Orphanet Journal of Rare Diseases 2022 17:247
  5. Thrombotic thrombocytopenic purpura (TTP) is a rare, life-threatening thrombotic microangiopathy (TMA) requiring urgent treatment. Standardization of its diagnosis and optimal management is challenging. This s...

    Authors: I. Mancini, P. Agosti, M. Boscarino, B. Ferrari, A. Artoni, R. Palla, M. Spreafico, G. Crovetti, E. Volpato, S. Rossini, C. Novelli, S. Gattillo, L. Barcella, M. Salmoiraghi, A. Falanga and F. Peyvandi
    Citation: Orphanet Journal of Rare Diseases 2022 17:246
  6. Congenital pseudarthrosis of the tibia (CPT) is a rare disease occurring in children. The aim of this study is to identify the factors affecting bone union and re-fracture after surgery for CPT and to provide ...

    Authors: Zhuoyang Li, Hui Yu, Yiyong Huang, Yaoxi Liu, Guanghui Zhu, Qian Tan, Haibo Mei and Ge Yang
    Citation: Orphanet Journal of Rare Diseases 2022 17:245
  7. Williams syndrome (WS) and Autism Spectrum Disorders (ASD) are neurodevelopmental conditions associated with atypical but opposite face-to-face interactions patterns: WS patients overly stare at others, ASD in...

    Authors: Alice Gomez, Guillaume Lio, Manuela Costa, Angela Sirigu and Caroline Demily
    Citation: Orphanet Journal of Rare Diseases 2022 17:244
  8. Monocarboxylate transporter 1 (MCT1) deficiency has recently been described as a rare cause of recurrent ketosis, the result of impaired ketone utilization in extrahepatic tissues. To date, only six patients w...

    Authors: Sinziana Stanescu, Irene Bravo-Alonso, Amaya Belanger-Quintana, Belen Pérez, Montserrat Medina-Diaz, Pedro Ruiz-Sala, Nathaly Paola Flores, Raquel Buenache, Francisco Arrieta and Pilar Rodríguez-Pombo
    Citation: Orphanet Journal of Rare Diseases 2022 17:243
  9. Neurofibromatosis type 2 (NF2) is characterized by bilateral vestibular schwannoma (VS) more often in adults but a severe paediatric form with multiple neurological tumours is also described. In this populatio...

    Authors: S. Legoupil, D. Bessis, F. Picard, S. Mallet, J. Mazereeuw, A. Phan, D. Dupin-Deguine, M. Kalamarides and C. Chiaverini
    Citation: Orphanet Journal of Rare Diseases 2022 17:242
  10. Glycogen storage diseases (GSDs) with liver involvement are classified into types 0, I, III, IV, VI, IX and XI, depending on the affected enzyme. Hypoglycemia and hepatomegaly are hallmarks of disease, but mus...

    Authors: Miriam Massese, Francesco Tagliaferri, Carlo Dionisi-Vici and Arianna Maiorana
    Citation: Orphanet Journal of Rare Diseases 2022 17:241
  11. In 10–15% of children with esophageal atresia (EA) delayed reconstruction of esophageal atresia (DREA) is necessary due to long-gap EA and/or prematurity/low birth weight. They represent a patient subgroup wit...

    Authors: Michaela Dellenmark-Blom, Sofie Örnö Ax, Elin Öst, Jan F. Svensson, Ann-Marie Kassa, Linus Jönsson, Kate Abrahamsson, Vladimir Gatzinsky, Pernilla Stenström, AnnaMaria Tollne, Erik Omling and Helene Engstrand Lilja
    Citation: Orphanet Journal of Rare Diseases 2022 17:239
  12. Patient registries provide long-term, real-world evidence that aids the understanding of the natural history and progression of disease, and the effects of treatment on large patient populations with rare dise...

    Authors: Michael Beck, Uma Ramaswami, Elizabeth Hernberg-Ståhl, Derralynn A. Hughes, Christoph Kampmann, Atul B. Mehta, Kathleen Nicholls, Dau-Ming Niu, Guillem Pintos-Morell, Ricardo Reisin, Michael L. West, Jörn Schenk, Christina Anagnostopoulou, Jaco Botha and Roberto Giugliani
    Citation: Orphanet Journal of Rare Diseases 2022 17:238
  13. Fabry disease (FD, OMIM #301500) is an X-linked lysosomal disorder caused by the deficiency of α-galactosidase A (α-GalA), encoded by the GLA gene. Among more than 1100 reported GLA mutations, few were deep intro...

    Authors: Xuantong Dai, Xue Zong, Xiaoxia Pan, Wei Lu, Geng-Ru Jiang and Fujun Lin
    Citation: Orphanet Journal of Rare Diseases 2022 17:237
  14. Transthyretin amyloidosis (ATTR amyloidosis) is a rare, life-threatening disease caused by the accumulation of variant or wild-type (ATTRwt amyloidosis) transthyretin amyloid fibrils in the heart, peripheral n...

    Authors: Angela Dispenzieri, Teresa Coelho, Isabel Conceição, Márcia Waddington-Cruz, Jonas Wixner, Arnt V. Kristen, Claudio Rapezzi, Violaine Planté-Bordeneuve, Juan Gonzalez-Moreno, Mathew S. Maurer, Martha Grogan, Doug Chapman and Leslie Amass
    Citation: Orphanet Journal of Rare Diseases 2022 17:236
  15. Malan syndrome (MALNS) is a recently described ultrarare syndrome lacking guidelines for diagnosis, management and monitoring of evolutive complications. Less than 90 patients are reported in the literature an...

    Authors: Marina Macchiaiolo, Filippo M. Panfili, Davide Vecchio, Michaela V. Gonfiantini, Fabiana Cortellessa, Cristina Caciolo, Marcella Zollino, Maria Accadia, Marco Seri, Marcello Chinali, Corrado Mammì, Marco Tartaglia, Andrea Bartuli, Paolo Alfieri and Manuela Priolo
    Citation: Orphanet Journal of Rare Diseases 2022 17:235
  16. Neuronopathic Gaucher Disease (nGD) describes the condition of a subgroup of patients with the Lysosomal Storage Disorder (LSD), Gaucher disease with involvement of the central nervous system (CNS) which resul...

    Authors: Aimee Donald, Cecilia Kämpe Björkvall, Ashok Vellodi, Timothy M. Cox, Derralyn Hughes, Simon A. Jones, Robert Wynn and Maciej Machaczka
    Citation: Orphanet Journal of Rare Diseases 2022 17:234
  17. People living with rare disease often have protracted journeys towards diagnosis. In the last decade, programs have arisen around the world that are dedicated to ending this ‘diagnostic odyssey’, including the...

    Authors: Alicia Bauskis, Cecily Strange, Caron Molster and Colleen Fisher
    Citation: Orphanet Journal of Rare Diseases 2022 17:233
  18. Hereditary angioedema (HAE) is a genetic disorder characterized by re-occurring swelling episodes called “attacks,” usually in the limbs, face, airways, and intestinal tract. New prophylactic therapies have re...

    Authors: Milenka Jean-Baptiste, Robbin Itzler, Subhransu Prusty, Dylan Supina and Mona L. Martin
    Citation: Orphanet Journal of Rare Diseases 2022 17:232
  19. Cystinosis is a rare autosomal recessive lysosomal storage disease, associated with high morbidity and mortality. Mutations in the CTNS gene disable a membrane protein responsible for the transport of cystine out...

    Authors: Emma Hector, Donald Cairns and G. Michael Wall
    Citation: Orphanet Journal of Rare Diseases 2022 17:231
  20. The rich and diverse genomics of African populations is significantly underrepresented in reference and in disease-associated databases. This renders interpreting the Next Generation Sequencing (NGS) data and ...

    Authors: Aimé Lumaka, Nadia Carstens, Koenraad Devriendt, Amanda Krause, Benard Kulohoma, Judit Kumuthini, Gerrye Mubungu, John Mukisa, Melissa Nel, Timothy O. Olanrewaju, Zané Lombard and Guida Landouré
    Citation: Orphanet Journal of Rare Diseases 2022 17:230
  21. Achondroplasia (ACH) is one of the most prevalent genetic forms of short-limbed skeletal dysplasia, caused by gain-of-function mutations in the receptor tyrosine kinase FGFR3. In August 2021, the C-type natriu...

    Authors: Martin Pesl, Hana Verescakova, Linda Skutkova, Jana Strenkova and Pavel Krejci
    Citation: Orphanet Journal of Rare Diseases 2022 17:229
  22. Inclusion body myositis (IBM) is a rare neuromuscular disease (NMD) and effective therapies are not available. Thus, it is relevant to determine the health-related quality of life (HRQoL) in IBM patients inclu...

    Authors: Katja C. Senn, Laura Gumbert, Simone Thiele, Sabine Krause, Maggie C. Walter and Klaus H. Nagels
    Citation: Orphanet Journal of Rare Diseases 2022 17:227
  23. Werner syndrome (WS) is an autosomal recessive premature ageing disease that causes accelerated ageing-like symptoms after puberty. Previous studies conducted in the late 2000s reported that malignant neoplasm...

    Authors: Hisaya Kato, Masaya Koshizaka, Hiyori Kaneko, Yoshiro Maezawa and Koutaro Yokote
    Citation: Orphanet Journal of Rare Diseases 2022 17:226
  24. Aberrations to endoplasmic/sarcoplasmic reticulum (ER/SR) calcium concentration can result in the departure of endogenous proteins in a phenomenon termed exodosis. Redistribution of the ER/SR proteome can have...

    Authors: Lacey K. Greer, Katherine G. Meilleur, Brandon K. Harvey and Emily S. Wires
    Citation: Orphanet Journal of Rare Diseases 2022 17:225
  25. Achondroplasia is associated with disproportionate short stature and significant and potentially severe medical complications. Vosoritide is the first medicine to treat the underlying cause of achondroplasia a...

    Authors: Ravi Savarirayan, Wagner Baratela, Thomas Butt, Valérie Cormier-Daire, Melita Irving, Bradley S. Miller, Klaus Mohnike, Keiichi Ozono, Ron Rosenfeld, Angelo Selicorni, Dominic Thompson, Klane K. White, Michael Wright and Svein O. Fredwall
    Citation: Orphanet Journal of Rare Diseases 2022 17:224
  26. Neurofibromatosis Type 1 (NF1) is a rare neurocutaneous disorder transmitted in an autosomal dominant fashion, mainly affecting the nervous system, the eye and skin. Ocular diagnostic hallmarks of NF1 include ...

    Authors: Fabiana Mallone, Luca Lucchino, Sandra Giustini, Alessandro Lambiase and Antonietta Moramarco
    Citation: Orphanet Journal of Rare Diseases 2022 17:223
  27. Cystic fibrosis (CF) has a vast and heterogeneous mutational spectrum in Europe. This variability has also been described in Spain, and there are numerous studies linking CFTR variants with the symptoms of the...

    Authors: Senay Rueda-Nieto, Pedro Mondejar-Lopez, María-Pilar Mira-Escolano, Ana Cutillas-Tolín, Luis Alberto Maceda-Roldán, Julián Jesús Arense-Gonzalo and Joaquín A. Palomar-Rodríguez
    Citation: Orphanet Journal of Rare Diseases 2022 17:222
  28. Prader-Willi syndrome (PWS) is a complex and multisystem neurobehavioral disease, which is caused by the lack of expression of paternally inherited imprinted genes on chromosome15q11.2-q13.1. The clinical mani...

    Authors: Dai Yang-Li, Luo Fei-Hong, Zhang Hui-Wen, Ma Ming-Sheng, Luo Xiao-Ping, Liu Li, Wang Yi, Zhou Qing, Jiang Yong-Hui and Zou Chao-Chun
    Citation: Orphanet Journal of Rare Diseases 2022 17:221
  29. For extreme hereditary hemorrhagic telangiectasia (HHT) disease, treatments such as intravenous bevacizumab are often utilized. However, whether its efficacy is similar across diverse races and ethnicities is ...

    Authors: Panagis Galiatsatos, Cheri Wilson, Jaime O’Brien, Anna J. Gong, Dylan Angiolillo, James Johnson, Carlie Myers, Sara Strout, Stephen Mathai, Gina Robinson, Nicholas R. Rowan and Clifford R. Weiss
    Citation: Orphanet Journal of Rare Diseases 2022 17:220
  30. To investigate the clinical characteristics of patients with multiple endocrine neoplasia type 1 (MEN1)-related insulinoma and their relationship with specific biochemical changes and to summarize the features...

    Authors: Yuan Zhao, Jie Yu, Yiwen Liu, Lu Lyu, Fan Ping, Lingling Xu, Wei Li, Ou Wang, Qiang Xu, Wenming Wu, Huabing Zhang and Yuxiu Li
    Citation: Orphanet Journal of Rare Diseases 2022 17:219
  31. Hereditary hemochromatosis (HH) is mainly caused by homozygous p.C282Y mutations in HFE in the Caucasians. We recently reported non-HFE mutations constitute the major cause of HH in Chinese. However, there is sti...

    Authors: Wei Zhang, Yanmeng Li, Anjian Xu, Qin Ouyang, Liyan Wu, Donghu Zhou, Lina Wu, Bei Zhang, Xinyan Zhao, Yu Wang, Xiaoming Wang, Weijia Duan, Qianyi Wang, Hong You, Jian Huang, Xiaojuan Ou…
    Citation: Orphanet Journal of Rare Diseases 2022 17:216
  32. Thymic neuroendocrine tumors comprise a heterogeneous group of rare diseases. This study aimed to investigate the real-world clinicopathological features and treatment outcomes of thymic neuroendocrine tumors.

    Authors: Yeye Chen, Jiaqi Zhang, Mengxin Zhou, Chao Guo and Shanqing Li
    Citation: Orphanet Journal of Rare Diseases 2022 17:215
  33. NLRP3-associated autoinflammatory disease (NLRP3-AID), caused by mutations of NLRP3, is one of the autoinflammatory diseases affecting inflammasomes. Since there are little cases of Chinese NLRP3-AID, we repor...

    Authors: Yu Zhou, Wei Wang, Linqing Zhong, Lin Wang, Mingsheng Ma, Xiaoyan Tang, Zhuo Li, Changyan Wang, Lijuan Gou, Tiannan Zhang and Hongmei Song
    Citation: Orphanet Journal of Rare Diseases 2022 17:214
  34. Meta-analysis was used to evaluate the diagnostic value of a CVR cut-off value of 1.6 for fetal hydrops due to congenital lung malformation (CLM).

    Authors: Pei Zhu, Kaisheng Cheng, Mingsheng He, Yutong Wang, Pengyue Shen, Kanglin He, Chang Xu, Ben Zhang and Zhenmi Liu
    Citation: Orphanet Journal of Rare Diseases 2022 17:213
  35. Patients’ involvement (PI) in research is recognized as a valuable strategy for increasing the quality, developing more targeted research and to speed up more innovative research dissemination. Nevertheless, p...

    Authors: Gry Velvin, Thale Hartman and Trine Bathen
    Citation: Orphanet Journal of Rare Diseases 2022 17:212
  36. In order to facilitate the diagnostic process for adult patients suffering from a rare disease, the Undiagnosed Disease Program (UD-PrOZA) was founded in 2015 at the Ghent University Hospital in Belgium. In th...

    Authors: Nika Schuermans, Dimitri Hemelsoet, Wim Terryn, Sanne Steyaert, Rudy Van Coster, Paul J. Coucke, Wouter Steyaert, Bert Callewaert, Elke Bogaert, Patrick Verloo, Arnaud V. Vanlander, Elke Debackere, Jody Ghijsels, Pontus LeBlanc, Hannah Verdin, Leslie Naesens…
    Citation: Orphanet Journal of Rare Diseases 2022 17:210
  37. Hypospadias is a congenital anomaly of the male urogenital system. Genetics factors play an important role in its pathogenesis. To search for potential causal genes/variants for hypospadias, we performed exome...

    Authors: Defu Lin, Huakang Du, Sen Zhao, Bowen Liu, Hongcheng Song, Guannan Wang, Weiping Zhang, Haiyan Liang, Pei Liu, Chao Liu, Wenwen Han, Zhenwu Li, Yang Yang, Shuofan Chen, Lina Zhao, Xiaoxin Li…
    Citation: Orphanet Journal of Rare Diseases 2022 17:209
  38. The transition of adolescents to adult care is known to be challenging. Studies indicate that patients with a chronic disease and cognitive deficits are at risk of inadequate transition to adult care, which ev...

    Authors: S. Lausdahl, M. M. Handrup, S. L. Rubak, M. D. Jensen and C. Ejerskov
    Citation: Orphanet Journal of Rare Diseases 2022 17:208
  39. After repair of esophageal atresia (EA), childhood survivors commonly present with digestive and respiratory morbidity, and around 55% have associated anomalies. Although it is known that these problems can re...

    Authors: Michaela Dellenmark-Blom, Kate Abrahamsson, Jens Dingemann, Stefanie Witt, Carmen Dingemann, Linus Jönsson, Vladimir Gatzinsky, Monika Bullinger, Benno M. Ure, John E. Chaplin and Julia H. Quitmann
    Citation: Orphanet Journal of Rare Diseases 2022 17:207
  40. GNE myopathy is a rare distal myopathy caused by mutations of the GNE gene. A few cases of GNE myopathy accompanied by neurogenic features of electrophysiology mimicking hereditary motor neuropathy were reported ...

    Authors: Xiangyi Liu, Yingshuang Zhang, Shuo Zhang, Aping Sun, Danfeng Zheng, Dongsheng Fan and Xiaoxuan Liu
    Citation: Orphanet Journal of Rare Diseases 2022 17:206
  41. 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 17:205

    The original article was published in Orphanet Journal of Rare Diseases 2022 17:61

  42. Mitochondrial diseases represent one of the most common groups of genetic diseases. With a prevalence greater than 1 in 5000 adults, such diseases still lack effective treatment. Current therapies are purely p...

    Authors: Juan M. Suárez-Rivero, Carmen J. Pastor-Maldonado, Suleva Povea-Cabello, Mónica Álvarez-Córdoba, Irene Villalón-García, Marta Talaverón-Rey, Alejandra Suárez-Carrillo, Manuel Munuera-Cabeza, Diana Reche-López, Paula Cilleros-Holgado, Rocío Piñero-Perez and José A. Sánchez-Alcázar
    Citation: Orphanet Journal of Rare Diseases 2022 17:204
  43. Patients with maple syrup urine disease (MSUD) experiencing metabolic decompensations have traditionally been treated with branched-chain amino acid (BCAA)-free mixture via oral or nasogastric administration r...

    Authors: Jean-Meidi Alili, Marie-Pierre Berleur, Marie-Caroline Husson, Karine Mention, Manuel Schiff, Jean-Baptiste Arnoux, Anaïs Brassier, Anne-Sophie Guemman, Coraline Grisel, Sandrine Dubois, Marie-Thérèse Abi-Wardé, Christine Broissand, Aude Servais, Myriam Dao and Pascale de Lonlay
    Citation: Orphanet Journal of Rare Diseases 2022 17:202
  44. Spinal Muscular Atrophy (SMA) is a rare, recessively inherited neuromuscular disorder that causes progressive muscle weakness. There is a low degree of awareness about SMA amongst the public and healthcare pro...

    Authors: Gaik Siew Ch’ng, Karina Koh, Azlina Ahmad-Annuar, Fahisham Taib, Cha Ling Koh and Edmund Soon Chin Lim
    Citation: Orphanet Journal of Rare Diseases 2022 17:200
  45. There is a vast number of screening studies described in the literature from the beginning of the twenty-first century to the present day. Many of these studies are related to the estimation of Fabry disease (...

    Authors: K. Savostyanov, A. Pushkov, I. Zhanin, N. Mazanova, S. Trufanov, A. Pakhomov, A. Alexeeva, D. Sladkov, A. Asanov and A. Fisenko
    Citation: Orphanet Journal of Rare Diseases 2022 17:199