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236 result(s) for 'AGREE II assessment' within Orphanet Journal of Rare Diseases

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  1. Hereditary angioedema with C1 inhibitor deficiency is a disabling, potentially fatal condition characterized by recurrent episodes of swelling. Self-treatment is recommended, in order to reduce admissions to t...

    Authors: Andrea Zanichelli, Giulia Maria Azin, Federico Cristina, Romualdo Vacchini and Teresa Caballero
    Citation: Orphanet Journal of Rare Diseases 2018 13:51
    Content type: Research Published on:

  2. Randomized controlled trials (RCTs) are the gold standard design of clinical research to assess interventions. However, RCTs cannot always be applied for practical or ethical reasons. To investigate the curren...

    Authors: Steffen Unkel, Christian Röver, Nigel Stallard, Norbert Benda, Martin Posch, Sarah Zohar and Tim Friede
    Citation: Orphanet Journal of Rare Diseases 2016 11:16
    Content type: Research Published on:

  3. Osteogenesis imperfecta (OI) affects dental and craniofacial development; therefore, it can influence oral health-related quality of life (OHRQoL). The objective of this study was to explore the influence of t...

    Authors: Amira Ahmed Elfituri, Manuel Joaquín De Nova and Mohammadamin Najirad
    Citation: Orphanet Journal of Rare Diseases 2024 19:108
    Content type: Research Published on:

    The Correction to this article has been published in Orphanet Journal of Rare Diseases 2024 19:166

  4. Canavan disease (CD, MIM # 271900) is a rare and devastating leukodystrophy of early childhood. To identify clinical features that could serve as endpoints for treatment trials, the clinical course of CD was s...

    Authors: Annette Bley, Jonas Denecke, Alfried Kohlschütter, Gerhard Schön, Sandra Hischke, Philipp Guder, Tatjana Bierhals, Heather Lau, Maja Hempel and Florian S. Eichler
    Citation: Orphanet Journal of Rare Diseases 2021 16:227
    Content type: Research Published on:

  6. The Treatable ID App was created in 2012 as digital tool to improve early recognition and intervention for treatable inherited metabolic disorders (IMDs) presenting with global developmental delay and intelle...

    Authors: Eva M. M. Hoytema van Konijnenburg, Saskia B. Wortmann, Marina J. Koelewijn, Laura A. Tseng, Roderick Houben, Sylvia Stöckler-Ipsiroglu, Carlos R. Ferreira and Clara D. M. van Karnebeek
    Citation: Orphanet Journal of Rare Diseases 2021 16:170
    Content type: Review Published on:

  7. Tenosynovial Giant-Cell Tumour (TGCT) is a benign clonal neoplastic proliferation arising from the synovium, causing a variety of symptoms and often requiring repetitive surgery. This study aims to define the ...

    Authors: J. Lopez-Bastida, I. Aranda-Reneo, B. Rodríguez-Sánchez, L. M. Peña-Longobardo, X. Ye, P. Laeis, E. M. Fronk, E. Palmerini, A. Leithner and M. A. J. Van de Sande
    Citation: Orphanet Journal of Rare Diseases 2021 16:294
    Content type: Research Published on:

  8. Inborn errors of metabolism (IEMs) have been anecdotally reported in the literature as presenting with features of cerebral palsy (CP) or misdiagnosed as ‘atypical CP’. A significant proportion is amenable to ...

    Authors: Emma L Leach, Michael Shevell, Kristin Bowden, Sylvia Stockler-Ipsiroglu and Clara DM van Karnebeek
    Citation: Orphanet Journal of Rare Diseases 2014 9:197
    Content type: Research Published on:

  9. The aim of this study was to determine the economic burden and health-related quality of life (HRQOL) of patients with Spinal Muscular Atrophy (SMA) and their caregivers in Spain.

    Authors: Julio López-Bastida, Luz María Peña-Longobardo, Isaac Aranda-Reneo, Eduardo Tizzano, Mark Sefton and Juan Oliva-Moreno
    Citation: Orphanet Journal of Rare Diseases 2017 12:141
    Content type: Research Published on:

  10. The diversity of patient experiences of orphan drug development has until recently been overlooked, with the existing literature reporting the experience of some patients and not others. The current evidence b...

    Authors: Julia Frost, Abi Hall, Emily Taylor, Sarah Lines, Jessica Mandizha and Catherine Pope
    Citation: Orphanet Journal of Rare Diseases 2023 18:84
    Content type: Review Published on:

  11. Patient data registries that are FAIR—Findable, Accessible, Interoperable, and Reusable for humans and computers—facilitate research across multiple resources. This is particularly relevant to rare diseases, w...

    Authors: Karlijn H. J. Groenen, Annika Jacobsen, Martijn G. Kersloot, Bruna dos Santos Vieira, Esther van Enckevort, Rajaram Kaliyaperumal, Derk L. Arts, Peter A. C. ‘t Hoen, Ronald Cornet, Marco Roos and Leo Schultze Kool
    Citation: Orphanet Journal of Rare Diseases 2021 16:376
    Content type: Research Published on:

  12. 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:

  13. Inherited epidermolysis bullosa (EB) is a cluster of rare, genetic skin and mucosal fragility disorders with multi-system and secondary effects, in which blistering and erosions occur in response to friction/m...

    Authors: Mark P. Popenhagen, Paola Genovese, Mo Blishen, Dilini Rajapakse, Anja Diem, Alex King, Jennifer Chan, Eduard Pellicer Arasa, Simone Baird, Anna Carolina Ferreira da Rocha, Gideon Stitt, Kellie Badger, Vlasta Zmazek, Faiza Ambreen, Caroline Mackenzie, Harper Price…
    Citation: Orphanet Journal of Rare Diseases 2023 18:268
    Content type: Review Published on:

  14. Hereditary hemorrhagic telangiectasia (HHT) is a multisystemic inherited vascular dysplasia that leads to nosebleeds and visceral arteriovenous malformations (AVMs). Anti-angiogenic drugs thalidomide and bevac...

    Authors: Elisabetta Buscarini, Luisa Maria Botella, Urban Geisthoff, Anette D. Kjeldsen, Hans Jurgen Mager, Fabio Pagella, Patrizia Suppressa, Roberto Zarrabeitia, Sophie Dupuis-Girod and Claire L. Shovlin
    Citation: Orphanet Journal of Rare Diseases 2019 14:28
    Content type: Research Published on:

  15. Orphan medicinal products (OMPs) are intended for the diagnosis, prevention, management or treatment of rare diseases (RDs). Each RD affects only a small fraction of the population, and therefore, historically, i...

    Authors: Mohua Chakraborty Choudhury and Gayatri Saberwal
    Citation: Orphanet Journal of Rare Diseases 2019 14:241
    Content type: Research Published on:

  16. Friedreich’s Ataxia (FRDA) is a neurodegenerative disorder that causes progressive damage to the central and peripheral nervous systems having a significant impact upon quality of life. With little information...

    Authors: Paola Giunti, Julia Greenfield, Alison J Stevenson, Michael H Parkinson, Jodie L Hartmann, Ruediger Sandtmann, James Piercy, Jamie O’Hara, Leo Ruiz Casas and Fiona M Smith
    Citation: Orphanet Journal of Rare Diseases 2013 8:38
    Content type: Research Published on:

  17. Microtia is a congenital ear malformation that can occur as isolated microtia or as part of a syndrome. The etiology is currently poorly understood, although there is strong evidence that genetics has a role i...

    Authors: Siti Isya Wahdini, Fina Idamatussilmi, Rachmaniar Pramanasari, Almas Nur Prawoto, Citrawati Dyah Kencono Wungu, Indri Lakhsmi Putri and Gunadi
    Citation: Orphanet Journal of Rare Diseases 2024 19:152
    Content type: Research Published on:

  18. Strimvelis (autologous CD34+ cells transduced to express adenosine deaminase [ADA]) is the first ex vivo stem cell gene therapy approved by the European Medicines Agency (EMA), indicated as a single treatment ...

    Authors: Heide Stirnadel-Farrant, Mahesh Kudari, Nadia Garman, Jessica Imrie, Bikramjit Chopra, Stefania Giannelli, Michela Gabaldo, Ambra Corti, Stefano Zancan, Alessandro Aiuti, Maria Pia Cicalese, Rohit Batta, Jonathan Appleby, Mario Davinelli and Pauline Ng
    Citation: Orphanet Journal of Rare Diseases 2018 13:49
    Content type: Research Published on:

  19. Mutations in PMM2 impair phosphomannomutase-2 activity and cause the most frequent congenital disorder of glycosylation, PMM2-CDG. Mannose-1-phosphate, that is deficient in this disorder, is also implicated in th...

    Authors: Maria E de la Morena-Barrio, Trinidad Hernández-Caselles, Javier Corral, Roberto García-López, Irene Martínez-Martínez, Belen Pérez-Dueñas, Carmen Altisent, Teresa Sevivas, Soren R Kristensen, Encarna Guillén-Navarro, Antonia Miñano, Vicente Vicente, Jaak Jaeken and Maria L Lozano
    Citation: Orphanet Journal of Rare Diseases 2013 8:170
    Content type: Research Published on:

  20. With the advancements in genetics and genomics in the twenty-first century, genetic services have become an integral part of medical practices in high-income and upper-middle-income countries. However, people ...

    Authors: Mohammad Jakir Hosen, Saeed Anwar, Jarin Taslem Mourosi, Sourav Chakraborty, Md. Faruque Miah and Olivier M. Vanakker
    Citation: Orphanet Journal of Rare Diseases 2021 16:168
    Content type: Review Published on:

  21. Mucopolysaccharidosis I-Hurler (MPS I-H) is the most severe form of a metabolic genetic disease caused by mutations of IDUA gene encoding the lysosomal α-L-iduronidase enzyme. MPS I-H is a rare, life-threatening ...

    Authors: Rossella Parini, Federica Deodato, Maja Di Rocco, Edoardo Lanino, Franco Locatelli, Chiara Messina, Attilio Rovelli and Maurizio Scarpa
    Citation: Orphanet Journal of Rare Diseases 2017 12:112
    Content type: Review Published on:

  22. Pulmonary large-cell neuroendocrine carcinoma (pLCNEC) is a very rare malignancy originating from the lung and bronchus, and its biological behaviour, clinical diagnosis, treatment and prognosis are poorly und...

    Authors: Yeye Chen, Jiaqi Zhang, Cheng Huang, Zhenhuan Tian, Xiaoyun Zhou, Chao Guo, Hongsheng Liu and Shanqing Li
    Citation: Orphanet Journal of Rare Diseases 2021 16:82
    Content type: Research Published on:

  23. Glut1 deficiency syndrome (Glut1-DS) is a rare metabolic encephalopathy. Familial forms are poorly investigated, and no previous studies have explored aspects of Glut1-DS over the course of life: clinical pict...

    Authors: Sara Olivotto, Alessandra Duse, Stefania Maria Bova, Valeria Leonardi, Elia Biganzoli, Alberto Milanese, Cristina Cereda, Simona Bertoli, Roberto Previtali and Pierangelo Veggiotti
    Citation: Orphanet Journal of Rare Diseases 2022 17:365
    Content type: Research Published on:

  24. Diffuse parenchymal lung diseases (DPLD) in children represent a rare and heterogeneous group of chronic pulmonary disorders. Despite substantial advances in genetics and pathomechanisms, these often lethal di...

    Authors: Matthias Griese, Melanie Haug, Frank Brasch, Achim Freihorst, Peter Lohse, Rüdiger von Kries, Theodor Zimmermann and Dominik Hartl
    Citation: Orphanet Journal of Rare Diseases 2009 4:26
    Content type: Research Published on:

  25. Charcot-Marie-Tooth type 1A disease (CMT1A) is a rare orphan inherited neuropathy caused by an autosomal dominant duplication of a gene encoding for the structural myelin protein PMP22, which induces abnormal...

    Authors: Shahram Attarian, Jean-Michel Vallat, Laurent Magy, Benoît Funalot, Pierre-Marie Gonnaud, Arnaud Lacour, Yann Péréon, Odile Dubourg, Jean Pouget, Joëlle Micallef, Jérôme Franques, Marie-Noëlle Lefebvre, Karima Ghorab, Mahmoud Al-Moussawi, Vincent Tiffreau, Marguerite Preudhomme…
    Citation: Orphanet Journal of Rare Diseases 2014 9:199
    Content type: Research Published on:

    The Erratum to this article has been published in Orphanet Journal of Rare Diseases 2016 11:92

  26. Phenylketonuria (PKU) is an autosomal recessive disorder caused by the deficiency of phenylalanine hydroxylase that catalyzes the conversion of phenylalanine to tyrosine, using tetrahydrobiopterin (BH4) as coe...

    Authors: Iris Scala, Daniela Concolino, Roberto Della Casa, Anna Nastasi, Carla Ungaro, Serena Paladino, Brunella Capaldo, Margherita Ruoppolo, Aurora Daniele, Giuseppe Bonapace, Pietro Strisciuglio, Giancarlo Parenti and Generoso Andria
    Citation: Orphanet Journal of Rare Diseases 2015 10:14
    Content type: Research Published on:

  27. Renal angiomyolipomas (AML) are usual manifestations of tuberous sclerosis complex (TSC) that may cause aneurism-related haemorrhages and renal impairment. Everolimus has emerged as an alternative to surgery/e...

    Authors: Nicolás Roberto Robles, Ramón Peces, Álvaro Gómez-Ferrer, Felipe Villacampa, Jose Luis Álvarez-Ossorio, Pedro Pérez-Segura, Juan Morote, Bernardo Herrera-Imbroda, Javier Nieto, Joaquín Carballido, Urbano Anido, Marian Valero, Cristina Meseguer and Roser Torra
    Citation: Orphanet Journal of Rare Diseases 2016 11:128
    Content type: Research Published on:

  28. 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
    Content type: Research Published on:

  29. Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism caused by deficiency in the enzyme phenylalanine hydroxylase that converts phenylalanine into tyrosine.

    Authors: A. MacDonald, A. M. J. van Wegberg, K. Ahring, S. Beblo, A. Bélanger-Quintana, A. Burlina, J. Campistol, T. Coşkun, F. Feillet, M. Giżewska, S. C. Huijbregts, V. Leuzzi, F. Maillot, A. C. Muntau, J. C. Rocha, C. Romani…
    Citation: Orphanet Journal of Rare Diseases 2020 15:171
    Content type: Review Published on:

    The Correction to this article has been published in Orphanet Journal of Rare Diseases 2020 15:230

  30. Within the 21 APEC economies alone, there are an estimated 200 million individuals living with a rare disease. As such, health data on these individuals, and hence patient registries, are vital. However, regis...

    Authors: Matthew I. Bellgard, Tom Snelling and James M. McGree
    Citation: Orphanet Journal of Rare Diseases 2019 14:176
    Content type: Position statement Published on:

  31. Approximately 50–70% of patients with Kawasaki disease (KD) could present with cervical lymphadenopathy associated with deep neck inflammation, which may result in Grisel’s syndrome (GS). Given the possibility...

    Authors: Xiaoliang Liu, Kaiyu Zhou, Yimin Hua, Mei Wu, Lei Liu, Shuran Shao and Chuan Wang
    Citation: Orphanet Journal of Rare Diseases 2020 15:246
    Content type: Research Published on:

  32. Lysosomal α-glucosidase deficiency (Pompe disease) not only leads to glycogen accumulation in skeletal muscle, but also in the cerebral arteries. Dolichoectasia of the basilar artery (BA) has been frequently r...

    Authors: Ole Hensel, Ilka Schneider, Mathias Wieprecht, Torsten Kraya and Stephan Zierz
    Citation: Orphanet Journal of Rare Diseases 2018 13:57
    Content type: Research Published on:

  33. No curative therapy for mitochondrial disease (MD) exists, prioritizing supportive treatment for symptom relief. In animal and cell models ketones decrease oxidative stress, increase antioxidants and scavenge ...

    Authors: Heidi Zweers, Annemiek M. J. van Wegberg, Mirian C. H. Janssen and Saskia B. Wortmann
    Citation: Orphanet Journal of Rare Diseases 2021 16:295
    Content type: Review Published on:

    The Correction to this article has been published in Orphanet Journal of Rare Diseases 2021 16:397

  34. Between 2002 and 2006 France launched a national cystic fibrois (CF) newborn screening program; organized a network of specialized CF care centers; and issued CF diagnostic and treatment standards. To continue...

    Authors: Kathryn A. Sabadosa, Marjorie M. Godfrey and Bruce C. Marshall
    Citation: Orphanet Journal of Rare Diseases 2018 13(Suppl 1):13
    Content type: Research Published on:

    This article is part of a Supplement: Volume 13 Supplement 1

  35. This cross-sectional controlled study aims to assess health-related quality of life (HRQoL) of children and adolescents with a molecular diagnosis of Marfan syndrome (MFS) or related disorders and to evaluate ...

    Authors: Thomas Edouard, Marie-Christine Picot, Fernanda Bajanca, Helena Huguet, Aitor Guitarte, Maud Langeois, Bertrand Chesneau, Philippe Khau Van Kien, Eric Garrigue, Yves Dulac and Pascal Amedro
    Citation: Orphanet Journal of Rare Diseases 2024 19:180
    Content type: Research Published on:

  36. Hereditary haemorrhagic telangiectasia (HHT) is a multisystemic vascular dysplasia inherited as an autosomal dominant trait. Approximately 10 % of patients have cerebral vascular malformations, a proportion be...

    Authors: Omer F. Eker, Edoardo Boccardi, Ulrich Sure, Maneesh C. Patel, Saverio Alicante, Ali Alsafi, Nicola Coote, Freya Droege, Olivier Dupuis, Annette Dam Fialla, Bryony Jones, Ujwal Kariholu, Anette D. Kjeldsen, David Lefroy, Gennaro M. Lenato, Hans Jurgen Mager…
    Citation: Orphanet Journal of Rare Diseases 2020 15:165
    Content type: Position statement Published on:

  37. Revesz syndrome (RS) is an extremely rare variant of dyskeratosis congenita (DKC) with only anecdotal reports in the literature.

    Authors: Michael Karremann, Eva Neumaier-Probst, Frank Schlichtenbrede, Fabian Beier, Tim H. Brümmendorf, Friedrich W. Cremer, Peter Bader and Matthias Dürken
    Citation: Orphanet Journal of Rare Diseases 2020 15:299
    Content type: Review Published on:

  39. Many rare diseases of childhood are life-threatening and chronically debilitating, so living with a rare disease is an on-going challenge for patients and their families. MPS is one of a range of rare inherite...

    Authors: S. Somanadhan and P. J. Larkin
    Citation: Orphanet Journal of Rare Diseases 2016 11:138
    Content type: Research Published on:

  40. Over 95% of rare diseases lack treatments despite many successful treatment studies in animal models. To improve access to treatments, the Accelerated Approval (AA) regulations were implemented allowing the us...

    Authors: Brigitta E Miyamoto and Emil D Kakkis
    Citation: Orphanet Journal of Rare Diseases 2011 6:49
    Content type: Research Published on:

  41. 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
    Content type: Research Published on:

  42. Mitochondrial disorders are a clinically, biochemically and genetically heterogeneous group of multi-system diseases, with an unmet medical need for treatment. KH176 is an orally bio-available small molecule u...

    Authors: Saskia Koene, Edwin Spaans, Luc Van Bortel, Griet Van Lancker, Brant Delafontaine, Fabio Badilini, Julien Beyrath and Jan Smeitink
    Citation: Orphanet Journal of Rare Diseases 2017 12:163
    Content type: Research Published on:

  43. Prader–Willi syndrome (PWS) is a rare and complex genetic disease, with numerous implications on metabolic, endocrine, neuropsychomotor systems, and with behavioural and intellectual disorders. Rare disease pa...

    Authors: Marco Salvatore, Paola Torreri, Graziano Grugni, Adele Rocchetti, Mohamad Maghnie, Giuseppa Patti, Antonino Crinò, Maurizio Elia, Donatella Greco, Corrado Romano, Adriana Franzese, Enza Mozzillo, Annamaria Colao, Gabriella Pugliese, Uberto Pagotto, Valentina Lo Preiato…
    Citation: Orphanet Journal of Rare Diseases 2023 18:28
    Content type: Research Published on:

  44. We provide the first empirical exploration of disease-related innovation by patients and their caregivers. Our aims were to explore to what degree do patients develop innovative solutions; how many of these ar...

    Authors: Pedro Oliveira, Leid Zejnilovic, Helena Canhão and Eric von Hippel
    Citation: Orphanet Journal of Rare Diseases 2015 10:41
    Content type: Research Published on:

  45. Intravenous (IV) artesunate is the treatment of choice for severe malaria. In Europe, this treatment is only available in a few countries via named patient programmes (NPPs). As a case study, the legal and org...

    Authors: Annemarie Rosan Kreeftmeijer-Vegter, Cornelis KW van Veldhuizen and Peter J de Vries
    Citation: Orphanet Journal of Rare Diseases 2013 8:150
    Content type: Research Published on:

  46. Calcium ions are involved in several human cellular processes including corticogenesis, transcription, and synaptogenesis. Nevertheless, the relationship between calcium channelopathies (CCs) and intellectual ...

    Authors: Miriam Kessi, Baiyu Chen, Jing Peng, Fangling Yan, Lifen Yang and Fei Yin
    Citation: Orphanet Journal of Rare Diseases 2021 16:219
    Content type: Review Published on:

  47. Pompe disease is a rare, progressive, autosomal recessive lysosomal storage disorder caused by mutations in the acid α-glucosidase gene. This is the first report of Chinese patients from the global Pompe Regis...

    Authors: Yuying Zhao, Zhaoxia Wang, Jiahong Lu, Xuefan Gu, Yonglan Huang, Zhengqing Qiu, Yanping Wei and Chuanzhu Yan
    Citation: Orphanet Journal of Rare Diseases 2019 14:78
    Content type: Research Published on:

  49. Mowat–Wilson syndrome (MWS; OMIM #235730) is a genetic condition caused by heterozygous mutations or deletions of the ZEB2 gene. It is characterized by moderate-severe intellectual disability, epilepsy, Hirschspr...

    Authors: Ivan Ivanovski, Olivera Djuric, Serena Broccoli, Stefano Giuseppe Caraffi, Patrizia Accorsi, Margaret P. Adam, Kristina Avela, Magdalena Badura-Stronka, Allan Bayat, Jill Clayton-Smith, Isabella Cocco, Duccio Maria Cordelli, Goran Cuturilo, Veronica Di Pisa, Juliette Dupont Garcia, Roberto Gastaldi…
    Citation: Orphanet Journal of Rare Diseases 2020 15:151
    Content type: Research Published on:

  50. Among the unique features of the Rare Diseases Clinical Research Network (RDCRN) Program is the requirement for each Consortium to include patient advocacy groups (PAGs) as research partners. This development ...

    Authors: Peter A. Merkel, Michele Manion, Rashmi Gopal-Srivastava, Stephen Groft, H. A. Jinnah, David Robertson and Jeffrey P. Krischer
    Citation: Orphanet Journal of Rare Diseases 2016 11:66
    Content type: Research Published on:
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172