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  1. Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare but lethal cardiac ion channelopathy. Delayed diagnosis and misdiagnosis remain a matter of concern due to its rarity and insufficient rec...

    Authors: Yu Yan, Liting Tang, Xiaoqin Wang, Kaiyu Zhou, Fan Hu, Hongyu Duan, Xiaoliang Liu, Yimin Hua and Chuan Wang
    Citation: Orphanet Journal of Rare Diseases 2023 18:380
  2. Olipudase alfa is a recombinant human acid sphingomyelinase enzyme replacement therapy for non-central-nervous-system manifestations of acid sphingomyelinase deficiency (ASMD). The ASCEND randomized placebo-co...

    Authors: Melissa P. Wasserstein, Robin Lachmann, Carla Hollak, Antonio Barbato, Renata C. Gallagher, Roberto Giugliani, Norberto Bernardo Guelbert, Julia B. Hennermann, Takayuki Ikezoe, Olivier Lidove, Paulina Mabe, Eugen Mengel, Maurizio Scarpa, Ebubekir Senates, Michel Tchan, Jesus Villarrubia…
    Citation: Orphanet Journal of Rare Diseases 2023 18:378
  3. The randomised double-blinded placebo-controlled EXIST-1–3 studies have showed everolimus effective with adverse effects reported as acceptable in treatment of symptoms in patients with tuberous sclerosis comp...

    Authors: Ine Cockerell, Jakob Christensen, Christina E. Hoei-Hansen, Lotte Holst, Mikkel Grenaa Frederiksen, Aart Imran Issa-Epe, Bård Nedregaard, Ragnar Solhoff, Ketil Heimdal, Cecilie Johannessen Landmark, Caroline Lund and Terje Nærland
    Citation: Orphanet Journal of Rare Diseases 2023 18:377
  4. Improved approaches for chronic pain management are a clinical and research priority for people with haemophilia (PWH). Involving people with lived experience in the design of a complex rehabilitation interven...

    Authors: Paul McLaughlin, Michael Hurley, Pratima Chowdary, Kate Khair, Clive Smith and David Stephensen
    Citation: Orphanet Journal of Rare Diseases 2023 18:376
  5. Huntington’s disease (HD) is a progressive neurodegenerative disease, characterised by motor disturbances and non-motor (i.e., psychiatric) symptoms. Motor symptoms are the hallmark features of HD and take man...

    Authors: Reka Csehi, Viktor Molnar, Mariann Fedor, Vivien Zsumbera, Agnes Palasti, Karoly Acsai, Zoltan Grosz, Gyorgy Nemeth and Maria Judit Molnar
    Citation: Orphanet Journal of Rare Diseases 2023 18:375
  6. Nemaline myopathy (NM) and related disorders (NMr) form a heterogenous group of ultra-rare (1:50,000 live births or less) congenital muscle disorders. To elucidate the self-reported physical, psychological, an...

    Authors: Vilma-Lotta Lehtokari, Minna Similä, Marianne Tammepuu, Carina Wallgren-Pettersson, Sonja Strang-Karlsson and Sinikka Hiekkala
    Citation: Orphanet Journal of Rare Diseases 2023 18:374
  7. While substantial placebos have been used in herbal medicine (HM) clinical trials for rare diseases, the use and quality of reporting of HM-placebo remain unclear. We aim to describe the use of HM-placebo in c...

    Authors: Yixuan Li, Peipei Du, Xuebin Zhang, Chenyu Ren, Xinyi Shi, Xinglu Dong and Chi Zhang
    Citation: Orphanet Journal of Rare Diseases 2023 18:373
  8. Langerhans cell histiocytosis (LCH) is a rare highly heterogeneous histiocytosis, which can be divided into single system and multiple system disease according to site of involvement. There is a paucity of stu...

    Authors: Min Lang, Hua-cong Cai, He Lin, Long Chang, Jia-wen Dai, Jia Chen, Ming-hui Duan, Dao-bin Zhou, Gaurav Goyal and Xin-xin Cao
    Citation: Orphanet Journal of Rare Diseases 2023 18:372
  9. Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis is a rare, autosomal recessive, skeletal disorder first described in 2018. This syndrome starts with pre- and postnatal development...

    Authors: Wenyan Zhang, Ziming Yao, Ruolan Guo, Jun Cao, Wei Li, Chanjuan Hao and Xuejun Zhang
    Citation: Orphanet Journal of Rare Diseases 2023 18:371
  10. As the first gene therapy for spinal muscular atrophy (SMA), nusinersen is supposed to be administrated via intrathecal injection regularly for a lifetime. However, for SMA patients with severe spinal deformit...

    Authors: Zhen Wang, Erwei Feng, Yang Jiao, Junduo Zhao, Xin Chen, Haozhi Zhang, Jinqian Liang, Zheng Li, Xulei Cui, Weiyun Chen and Jianxiong Shen
    Citation: Orphanet Journal of Rare Diseases 2023 18:369
  11. Compassionate use is a system that provides patients with expedited access to drugs which has not yet been approved, but currently in clinical trials. The investigational drugs have been authorized for compass...

    Authors: Jiayu Wu, Yang Yang, Jiaxin Yu, Luyao Qiao, Wei Zuo and Bo Zhang
    Citation: Orphanet Journal of Rare Diseases 2023 18:368
  12. Pseudohypoparathyroidism type 1 (PHP1) is a rare disease featuring hypocalcemia and elevated PTH level. Though disturbed calcium and phosphorus metabolism under PTH resistant have been widely studied, glucolip...

    Authors: Yi Yang, An Song, Fengying Gong, Yan Jiang, Mei Li, Weibo Xia, Xiaoping Xing, Ou Wang and Hui Pan
    Citation: Orphanet Journal of Rare Diseases 2023 18:367
  13. With the first gene therapies for haemophilia approved by the European Commission, the US Food and Drug Administration, and the Medicines and Healthcare products Regulatory Agency, it is important to consider ...

    Authors: Sara Boyce, Simon Fletcher, April Jones, Ruchika Kohli, Sarah Mangles, Min Ong, Debra Pollard, Sujan Sivasubramaniyam, David Stephensen, Nicola Stoner and Rashid Kazmi
    Citation: Orphanet Journal of Rare Diseases 2023 18:366
  14. Poorly coordinated care can have major impacts on patients and families affected by rare conditions, with negative physical health, psychosocial and financial consequences. This study aimed to understand how c...

    Authors: Holly Walton, Pei Li Ng, Amy Simpson, Lara Bloom, Lyn S. Chitty, Naomi J. Fulop, Amy Hunter, Jennifer Jones, Joe Kai, Larissa Kerecuk, Maria Kokocinska, Kerry Leeson-Beevers, Sharon Parkes, Angus I. G. Ramsay, Alastair Sutcliffe, Christine Taylor…
    Citation: Orphanet Journal of Rare Diseases 2023 18:364
  15. Although rare diseases (RD) are increasingly becoming a priority for healthcare activities and services around the world, developing research policy for investigating RD in public settings proves challenging d...

    Authors: Soho Yoon, Minjee Lee, Hoi-In Jung, M. Mahmud Khan, So-Yoon Kim, Hannah Kim and Sophia Wasti
    Citation: Orphanet Journal of Rare Diseases 2023 18:363
  16. Rare diseases (RD) are a heterogeneous group of diseases, sharing aspects of complexity. Prognosis is variable, even in individuals with the same disease. Real-world data on RD as a whole are scarce. The aim o...

    Authors: Monica Mazzucato, Laura Visonà Dalla Pozza, Cinzia Minichiello, Ema Toto, Andrea Vianello and Paola Facchin
    Citation: Orphanet Journal of Rare Diseases 2023 18:362

    The Correction to this article has been published in Orphanet Journal of Rare Diseases 2024 19:43

  17. The pediatric pulmonary multisystem Langerhans cell histiocytosis (PPM LCH) is associated with either low risk or high risk organ(s). The nodulo-cystic lung lesions although pathognomonic, yet are very variab...

    Authors: Mohamed Sedky, Seham Gohar, Sonia Ahmed, Iman Zaky, Asmaa Salama, Omayma Hassanein, Eslam Maher and Alaa ElHaddad
    Citation: Orphanet Journal of Rare Diseases 2023 18:361
  18. Hypoketotic hypoglycaemia with suppressed plasma fatty acids and detectable insulin suggests congenital hyperinsulinism (CHI). Severe hypoketotic hypoglycaemia mimicking hyperinsulinism but without detectable ...

    Authors: Alena Welters, Sarah M Leiter, Nadine Bachmann, Carsten Bergmann, Henrike Hoermann, Eckhard Korsch, Thomas Meissner, Felicity Payne, Rachel Williams, Khalid Hussain, Robert K. Semple and Sebastian Kummer
    Citation: Orphanet Journal of Rare Diseases 2023 18:360
  19. Wolfram syndrome (WS) is a rare autosomal recessive multisystem neurodegenerative disease characterized by non-autoimmune insulin-dependent diabetes mellitus, optic atrophy, sensorineural deafness, and diabete...

    Authors: Danyang Du, Aihemaitijiang Tuhuti, Yanrong Ma, Munila Abuduniyimu, Suli Li, Guoying Ma, Jazyra Zynat and Yanying Guo
    Citation: Orphanet Journal of Rare Diseases 2023 18:359
  20. Zellweger spectrum disorders (ZSD) and X-linked adrenoleukodystrophy (X-ALD) are inherited metabolic diseases characterized by dysfunction of peroxisomes, that are essential for lipid metabolism and redox bala...

    Authors: Vincenza Gragnaniello, Daniela Gueraldi, Andrea Puma, Anna Commone, Chiara Cazzorla, Christian Loro, Elena Porcù, Maria Stornaiuolo, Paolo Miglioranza, Leonardo Salviati, Ronald J. A. Wanders and Alberto Burlina
    Citation: Orphanet Journal of Rare Diseases 2023 18:358
  21. Mucopolysaccharidosis (MPS) II is a rare, X-linked lysosomal storage disease. Approximately two-thirds of patients have central nervous system involvement with some demonstrating progressive cognitive impairme...

    Authors: Joseph Muenzer, Barbara K. Burton, Hernan M. Amartino, Paul R. Harmatz, Luis González Gutiérrez-Solana, Matilde Ruiz-Garcia, Yuna Wu, David Merberg, David Alexanderian and Simon A. Jones
    Citation: Orphanet Journal of Rare Diseases 2023 18:357
  22. Limb-girdle muscular dystrophies (LGMDs) are a group of heterogeneous inherited diseases predominantly characterized by limb-girdle muscle weakness and dystrophic changes on histological analysis. The frequenc...

    Authors: Feng Lin, Kang Yang, Xin Lin, Ming Jin, Long Chen, Fu-ze Zheng, Liang-liang Qiu, Zhi-xian Ye, Hai-zhu Chen, Min-ting Lin, Ning Wang and Zhi-qiang Wang
    Citation: Orphanet Journal of Rare Diseases 2023 18:356
  23. Leigh syndrome, an inherited neurometabolic disorder, is estimated to be the most common pediatric manifestation of mitochondrial disease. No treatments are currently available for Leigh syndrome due to many h...

    Authors: Jesse D. Moreira, Karan K. Smith, Sophia Zilber, Kasey Woleben and Jessica L. Fetterman
    Citation: Orphanet Journal of Rare Diseases 2023 18:355
  24. Patients with the rare disease; Hereditary haemorrhagic telangiectasia (HHT) often bleed from telangiectatic lesions in mucosal surfaces. Studies suggest that impaired platelet function may also play a role in...

    Authors: Anne Lørup Lyster, Signe Hedengran Biørn, Anette Drøhse Kjeldsen, Christian Nielsen, Bibi Lange, Annette Dam Fialla and Pernille Just Vinholt
    Citation: Orphanet Journal of Rare Diseases 2023 18:354
  25. Autoimmune pulmonary alveolar proteinosis (aPAP) is a rare interstitial lung disease. COVID-19 is associated with worse prognosis in previous lung diseases patients. But the prognosis of aPAP patients after in...

    Authors: Chuanxin Duan, Wangji Zhou, Miaoyan Zhang, Chongsheng Cheng, Wenshuai Xu, Jinrong Dai, Shuzhen Meng, Keqi Chen, Yang Zhao, Song Liu, Shao-Ting Wang, Yanli Yang, Kai-Feng Xu and Xinlun Tian
    Citation: Orphanet Journal of Rare Diseases 2023 18:353
  26. Hereditary transthyretin amyloidosis (ATTRv) is a rare genetic disease that negatively affects patients' quality of life through the involvement of various organs and tissues. Despite a large amount of researc...

    Authors: Aina Gayà-Barroso, Juan González-Moreno, Adrián Rodríguez, Tomás Ripoll-Vera, Inés Losada-López, Margarita Gili, Milena Paneque, Sara Pérez-Martínez and Eugenia Cisneros-Barroso
    Citation: Orphanet Journal of Rare Diseases 2023 18:352
  27. Tetrahydrobiopterin (BH4) deficiency caused by 6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency is a rare disorder that is one of the major causes of hyperphenylalaninemia in Taiwan.

    Authors: Rai-Hseng Hsu, Ni-Chung Lee, Hui-An Chen, Wuh-Liang Hwu, Tung-Ming Chang and Yin-Hsiu Chien
    Citation: Orphanet Journal of Rare Diseases 2023 18:351
  28. Transthyretin amyloidosis (ATTR amyloidosis) is a progressive, multisystemic, life-threatening disease resulting from the deposition of variant or wild-type (ATTRwt amyloidosis) transthyretin amyloid fibrils i...

    Authors: Luca Gentile, Teresa Coelho, Angela Dispenzieri, Isabel Conceição, Márcia Waddington-Cruz, Arnt Kristen, Jonas Wixner, Igor Diemberger, Juan Gonzalez-Moreno, Eve Cariou, Mathew S. Maurer, Violaine Planté-Bordeneuve, Pablo Garcia-Pavia, Ivailo Tournev, Jose Gonzalez-Costello, Alejandra Gonzalez Duarte…
    Citation: Orphanet Journal of Rare Diseases 2023 18:350
  29. Tuberous sclerosis complex (TSC) is a rare multisystem disorder caused by mutations in the TSC1 or TSC2 gene. More than 90% of patients with TSC develop neurological and/or neuropsychiatric manifestations. The...

    Authors: D. Mammadova, J. Vecko, M. Hofmann, S. C. Schüssler, L. Deiters, A. Canda, A. K. Wieland, S. Gollwitzer, H. Hamer and Regina Trollmann
    Citation: Orphanet Journal of Rare Diseases 2023 18:349
  30. Over the last 15 years, Undiagnosed Diseases Programs have emerged to address the significant number of individuals with suspected but undiagnosed rare genetic diseases, integrating research and clinical care ...

    Authors: Ela Curic, Lisa Ewans, Ryan Pysar, Fulya Taylan, Lorenzo D. Botto, Ann Nordgren, William Gahl and Elizabeth Emma Palmer
    Citation: Orphanet Journal of Rare Diseases 2023 18:348
  31. The diagnosis and treatment of fibro-adipose vascular anomaly (FAVA) of the limb remains challenging since this entity is rare and complex. This paper is aimed to describe the clinical and imaging features, st...

    Authors: Huaijie Wang, Chong Xie, Weilong Lin, Peihua Wang, Weijia Yang and Zhengtuan Guo
    Citation: Orphanet Journal of Rare Diseases 2023 18:347
  32. Little is known about employment status, occupation, and disposable income in adults with NF1.

    Authors: Line Kenborg, Line E. Frederiksen, Michael Galanakis, Karoline Doser, Thomas T. Nielsen, Mia Aagaard Doherty, Hanne Hove, John R. Østergaard, Mette M. Handrup, Cecilie Ejerskov, John J. Mulvihill and Jeanette F. Winther
    Citation: Orphanet Journal of Rare Diseases 2023 18:346
  33. Precise data about ATTR-CM incidence rates at national level are scarce. Consequently, this study aimed to estimate the annual incidence and survival of transthyretin amyloid cardiomyopathy (ATTR-CM) in France...

    Authors: Thibaud Damy, Guillaume Bourel, Michel Slama, Vincent Algalarrondo, Olivier Lairez, Pauline Fournier, Jérôme Costa, Françoise Pelcot, Agnès Farrugia, Isabelle Durand Zaleski, Hervé Lilliu, Caroline Rault, Mathilde Bartoli, Stéphane Fievez, Anna Granghaud, Jeremie Rudant…
    Citation: Orphanet Journal of Rare Diseases 2023 18:345
  34. In metabolic stress, the cytosolic phosphoenolpyruvate carboxykinase (PEPCK-C) enzyme is involved in energy production through the gluconeogenesis pathway. PEPCK-C deficiency is a rare childhood-onset autosoma...

    Authors: Marwa Al Busaidi, Feda E. Mohamed, Eiman Al-Ajmi, Nadia Al Hashmi, Khalid Al-Thihli, Amna Al Futaisi, Watfa Al Mamari, Fathiya Al-Murshedi and Fatma Al-Jasmi
    Citation: Orphanet Journal of Rare Diseases 2023 18:344
  35. Norm-based scores used to assess cognitive ability have clinical value when describing functioning of patients with neuronopathic disorders compared with unaffected, same-age peers. However, they have limitati...

    Authors: Karen S. Yee, Costel Chirila, Eric Davenport, Deirdre Mladsi, Christine Barnett and William G. Kronenberger
    Citation: Orphanet Journal of Rare Diseases 2023 18:343
  36. Sickle cell disease (SCD) is an inherited chronic life-threatening disorder with increasing prevalence in Europe. People living with SCD in Europe mainly belong to vulnerable minorities, have a lower level of ...

    Authors: Mariangela Pellegrini, Subarna Chakravorty, Maria del Mar Manu Pereira, Beatrice Gulbis, Catriona Gilmour-Hamilton, Sandy Hayes, Mariane de Montalembert, Baba Psalm Duniya Inusa, Raffaella Colombatti and Noémi BA Roy
    Citation: Orphanet Journal of Rare Diseases 2023 18:341
  37. Multiple epiphyseal dysplasia (MED) is a rare congenital bone dysplasia. Patients with MED develop secondary hip osteoarthritis as early as the third to the fourth decade. Currently, there is no consensus on t...

    Authors: Yao-Yuan Chang, Chia-Che Lee, Sheng-Chieh Lin, Ken N. Kuo, Jia-Feng Chang, Kuan-Wen Wu and Ting-Ming Wang
    Citation: Orphanet Journal of Rare Diseases 2023 18:340
  38. Inflammatory Bowel Diseases (IBD) are known to occur in association with Hirschsprung disease (HSCR). Most of cases are represented by Crohn Disease (CD) occurring in patients with Total Colonic Aganglionosis ...

    Authors: M Erculiani, F Poluzzi, G Mottadelli, E Felici, Novi ML, M Caraccia, A Grandi, S Casella, L Giacometti, G Montobbio, I Ceccherini, E Di Marco, C Bonaretti, R Biassoni, M Squillario, A Pietrantoni…
    Citation: Orphanet Journal of Rare Diseases 2023 18:339
  39. The Italian Medicines Agency (AIFA) demands precise information on benefit/risk profile of home-based enzyme replacement therapy (ERT) for the treatment of patients with Pompe disease and Mucopolysaccharidosis...

    Authors: Antonio Toscano, Olimpia Musumeci, Michele Sacchini, Sabrina Ravaglia, Gabriele Siciliano, Agata Fiumara, Elena Verrecchia, Melania Maione, Jennifer Gentile, Rita Fischetto, Grazia Crescimanno, Roberta Taurisano, Annalisa Sechi, Serena Gasperini, Vittoria Cianci, Lorenzo Maggi…
    Citation: Orphanet Journal of Rare Diseases 2023 18:338
  40. Authors: Lothar Seefried, Ali Alzahrani, Pedro Arango Sancho, Justine Bacchetta, Rachel Crowley, Francesco Emma, Jonathan Gibbins, Anna Grandone, Muhammad Kassim Javaid, Gabriel Mindler, Adalbert Raimann, Anya Rothenbuhler, Ian Tucker, Leonid Zeitlin and Agnès Linglart
    Citation: Orphanet Journal of Rare Diseases 2023 18(Suppl 2):333

    This article is part of a Supplement: Volume 18 Supplement 2

  41. Inclusion body myositis (IBM) is the most frequent type of myositis in elder patients with a slow chronic progression and refractory to treatment. Previous cost of illness (COI) studies in IBM used claims data...

    Authors: Katja C. Senn, Simone Thiele, Karsten Kummer, Maggie C. Walter and Klaus H. Nagels
    Citation: Orphanet Journal of Rare Diseases 2023 18:337
  42. Fetal skeletal dysplasia is a diverse group of degenerative diseases of bone and cartilage disorders that can lead to movement disorder and even death. This study aims to evaluate the diagnostic yield of sonog...

    Authors: Wanlu Liu, Jing Cao, Xinwei Shi, Yuqi Li, Fuyuan Qiao and Yuanyuan Wu
    Citation: Orphanet Journal of Rare Diseases 2023 18:336
  43. 22q11.2 Deletion Syndrome (22q11DS) is a genetic disorder characterized by the deletion of adjacent genes at a location specified as q11.2 of chromosome 22, resulting in an array of clinical phenotypes includi...

    Authors: Woosub Shin, Martina Kutmon, Eleni Mina, Therese van Amelsvoort, Chris T Evelo and Friederike Ehrhart
    Citation: Orphanet Journal of Rare Diseases 2023 18:335
  44. The median arcuate ligament syndrome (MALS) is a rare disease caused by compression of the celiac artery (ORPHA: 293208). Surgical treatment of MALS aims to restore normal celiac blood flow by laparoscopic cel...

    Authors: Anna Woestemeier, Alexander Semaan, Andreas Block, Jan Arensmeyer, Jonas Dohmen, Alexander Kania, Frauke Verrel, Martin Mücke, Jörg C. Kalff and Philipp Lingohr
    Citation: Orphanet Journal of Rare Diseases 2023 18:334
  45. Pegunigalsidase alfa is a novel, PEGylated α-galactosidase-A enzyme-replacement therapy approved in the EU and US to treat patients with Fabry disease (FD).

    Authors: Aleš Linhart, Gabriela Dostálová, Kathy Nicholls, Michael L. West, Camilla Tøndel, Ana Jovanovic, Pilar Giraldo, Bojan Vujkovac, Tarekegn Geberhiwot, Einat Brill-Almon, Sari Alon, Raul Chertkoff, Rossana Rocco and Derralynn Hughes
    Citation: Orphanet Journal of Rare Diseases 2023 18:332
  46. Authors: Lucia Masárová, Roman Panovský, Martin Pešl, Luz Mojica-Pisciotti Mary, Tomáš Holeček, Vladimír Kincl, Lenka Juříková, Jan Máchal, Lukáš Opatřil and Věra Feitová
    Citation: Orphanet Journal of Rare Diseases 2023 18:331

    The original article was published in Orphanet Journal of Rare Diseases 2023 18:283