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

Page 5 of 5

  1. In 2010, the time on the lung transplant waiting list in Nantes University Hospital (NUH) was 9.2 months, compared to a French national median of about 4 months. The NUH transplant unit performs both heart and...

    Authors: Isabelle Danner-Boucher, Véronique Loppinet, Aurore Boxus, Claire Dary, Anne Brigitte Lambert, Marine Prieur, Céline Vallet and Adrien Tissot
    Citation: Orphanet Journal of Rare Diseases 2018 13(Suppl 1):11
    Content type: Research Published on:

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

  2. Mutations of TCF4, which encodes a basic helix-loop-helix transcription factor, cause Pitt-Hopkins syndrome (PTHS) via multiple genetic mechanisms. TCF4 is a complex locus expressing multiple transcripts by alter...

    Authors: Valerie Maduro, Barbara N. Pusey, Praveen F. Cherukuri, Paul Atkins, Christèle du Souich, Rosemarie Rupps, Marjolaine Limbos, David R. Adams, Samarth S. Bhatt, Patrice Eydoux, Amanda E. Links, Anna Lehman, May C. Malicdan, Christopher E. Mason, Marie Morimoto, James C. Mullikin…
    Citation: Orphanet Journal of Rare Diseases 2016 11:62
    Content type: Research Published on:

  3. Mucopolysaccharidosis type III (MPS III), or Sanfilippo syndrome, is caused by a deficiency in one of the four enzymes involved in the lysosomal degradation of heparan sulphate. Four MPS III types have been re...

    Authors: Verónica Delgadillo, Maria del Mar O’Callaghan, Laura Gort, Maria Josep Coll and Mercedes Pineda
    Citation: Orphanet Journal of Rare Diseases 2013 8:189
    Content type: Research Published on:

  4. Hereditary transthyretin amyloidosis (ATTRv) is an ultra-rare, life-shortening disease with a high unmet need. This study examined ATTRv caregiver health-related quality of life (HRQoL) and productivity.

    Authors: Sarah Acaster, Siu Hing Lo and Sandra Nestler-Parr
    Citation: Orphanet Journal of Rare Diseases 2023 18:17
    Content type: Research Published on:

  5. Inherited metabolic diseases (IMDs) are a group of individually rare single-gene diseases. For many IMDs, there is a paucity of high-quality evidence that evaluates the effectiveness of clinical interventions....

    Authors: Michael Pugliese, Kylie Tingley, Andrea Chow, Nicole Pallone, Maureen Smith, Alvi Rahman, Pranesh Chakraborty, Michael T. Geraghty, Julie Irwin, Laure Tessier, Stuart G. Nicholls, Martin Offringa, Nancy J. Butcher, Ryan Iverson, Tammy J. Clifford, Sylvia Stockler…
    Citation: Orphanet Journal of Rare Diseases 2020 15:12
    Content type: Review Published on:

  6. Studies in orphan diseases are, by nature, confronted with small patient populations, meaning that randomized controlled trials will have limited statistical power. In order to estimate the effectiveness of tr...

    Authors: Tim A. Kanters, W. Ken Redekop, Maureen P.M.H. Rutten-Van Mölken, Michelle E. Kruijshaar, Deniz Güngör, Ans T. van der Ploeg and Leona Hakkaart
    Citation: Orphanet Journal of Rare Diseases 2015 10:112
    Content type: Research Published on:

  7. Sporadic inclusion body myositis (sIBM) is the most prevalent muscle disease in elderly people, affecting the daily activities. sIBM is progressive with unknown cause and without effective treatment. In 2015, ...

    Authors: Naoki Suzuki, Madoka Mori-Yoshimura, Satoshi Yamashita, Satoshi Nakano, Ken-ya Murata, Megumi Mori, Yukie Inamori, Naoko Matsui, En Kimura, Hirofumi Kusaka, Tomoyoshi Kondo, Hidefumi Ito, Itsuro Higuchi, Akihiro Hashiguchi, Hiroyuki Nodera, Ryuji Kaji…
    Citation: Orphanet Journal of Rare Diseases 2019 14:155
    Content type: Research Published on:

  8. A call from the EU for the set-up of European Reference Networks (ERNs) is expected to be launched in the first quarter of 2016. ERNs are intended to improve the care for patients with low prevalent or rare di...

    Authors: Carla E. M. Hollak, Marieke Biegstraaten, Matthias R. Baumgartner, Nadia Belmatoug, Bruno Bembi, Annet Bosch, Martijn Brouwers, Hanka Dekker, Dries Dobbelaere, Marc Engelen, Marike C. Groenendijk, Robin Lachmann, Janneke G. Langendonk, Mirjam Langeveld, Gabor Linthorst, Eva Morava…
    Citation: Orphanet Journal of Rare Diseases 2016 11:7
    Content type: Position statement Published on:

  9. The economic burden of rare diseases on health systems is still not widely measured, with the generation of accurate information about the costs with medical care for subjects with rare diseases being crucial ...

    Authors: Nayê Balzan Schneider, Erica Caetano Roos, Ana Lúcia Portella Staub, Isabela Possebon Bevilacqua, Ana Carolina de Almeida, Tamiê de Camargo Martins, Natalia Bergamelli Ramos, Priscilla Loze, Jonas Alex Morales Saute, Ana Paula Beck da Silva Etges and Carisi Anne Polanczyk
    Citation: Orphanet Journal of Rare Diseases 2023 18:159
    Content type: Research Published on:

  10. Congenital disorders of glycosylation (CDG) are a large family of rare genetic diseases for which therapies are virtually nonexistent. However, CDG therapeutic research has been expanding, thanks to the contin...

    Authors: Maria Monticelli, Rita Francisco, Sandra Brasil, Dorinda Marques-da-Silva, Tatiana Rijoff, Carlota Pascoal, Jaak Jaeken, Paula A. Videira and Vanessa dos Reis Ferreira
    Citation: Orphanet Journal of Rare Diseases 2022 17:303
    Content type: Research Published on:

  11. Rare diseases are a global public health issue with a more pressing situation in China. Unfortunately, the relevant research and development in this country are still in its infancy, leading to limited drug ac...

    Authors: Zhiyao Zhao, Zhongyang Pei, Anxia Hu, Yuhui Zhang and Jing Chen
    Citation: Orphanet Journal of Rare Diseases 2023 18:220
    Content type: Research Published on:

  12. Rett syndrome (RTT) is a rare neurodevelopmental condition associated with mutations in the gene coding for the methyl-CpG-binding protein 2 (MECP2). It is primarily observed in girls and affects individuals glob...

    Authors: Komal Zade, Ciara Campbell, Snow Bach, Hazel Fernandes and Daniela Tropea
    Citation: Orphanet Journal of Rare Diseases 2024 19:34
    Content type: Research Published on:

  13. Fetal skeletal dysplasia (SD) is a common congenital disability comprising a complex group of skeletal disorders with substantial clinical and genetic heterogeneity. Many of these defects are detected prenatal...

    Authors: Ying Bai, Yue Sun, Ning Liu, Li Wang, Zhihui Jiao, Yaqin Hou, Huikun Duan, Qianqian Li, Xiaofan Zhu, Jingjing Meng and Xiangdong Kong
    Citation: Orphanet Journal of Rare Diseases 2022 17:410
    Content type: Research Published on:

  14. Porphyria cutanea tarda (PCT) is a skin disorder caused by a defect in the liver enzyme uroporphyrinogen decarboxylase and is associated with hepatitis C virus infection, high alcohol intake, smoking and iron ...

    Authors: Carl Michael Baravelli, Aasne Karine Aarsand, Sverre Sandberg and Mette Christophersen Tollånes
    Citation: Orphanet Journal of Rare Diseases 2022 17:72
    Content type: Research Published on:

    The Correction to this article has been published in Orphanet Journal of Rare Diseases 2022 17:180

  15. Dystrophic epidermolysis bullosa (EB) is a family of rare genetic dermatological conditions. Recent evidence indicated that in addition to its detrimental implications on patient health-related quality of life...

    Authors: A. Angelis, J. E. Mellerio and P. Kanavos
    Citation: Orphanet Journal of Rare Diseases 2022 17:346
    Content type: Research Published on:

  16. Patients with Prader-Willi syndrome (PWS) often have comorbidities, especially obesity, that may constitute a risk factor for severe forms of COVID-19. We aimed to assess prevalence and medical course of SARS-...

    Authors: Muriel Coupaye, Virginie Laurier, Grégoire Benvegnu, Christine Poitou, Pauline Faucher, Héléna Mosbah, Gwenaelle Diene, Graziella Pinto, Laura González Briceño, Christine Merrien, Ana Camarena Toyos, Emilie Montastier, Maithé Tauber and Fabien Mourre
    Citation: Orphanet Journal of Rare Diseases 2021 16:325
    Content type: Research Published on:

  17. Pulmonary Langerhans cell histiocytosis (PLCH) is a rare, smoking related, progressive diffuse cystic lung disease that occurs primarily in smokers. The aim of this study was to determine if there was an incre...

    Authors: Cormac McCarthy, Emmanuelle Bugnet, Amira Benattia, Michael P. Keane, Benoit Vedie, Gwenaël Lorillon and Abdellatif Tazi
    Citation: Orphanet Journal of Rare Diseases 2021 16:72
    Content type: Letter to the Editor Published on:

  18. Primary cervical gestational trophoblastic neoplasias (GTNs) are extremely rare ectopic GTNs. Such lesions are difficult to diagnose clinically because of their rarity, with abnormal vaginal bleeding of a non-...

    Authors: Xiaoyu Wang, Junjun Yang, Xirun Wan, Fengzhi Feng, Jun Zhao, Tong Ren and Yang Xiang
    Citation: Orphanet Journal of Rare Diseases 2021 16:480
    Content type: Research Published on:

  19. Newborn screening (NBS) applications are limited as they can only cover a few genetic diseases and may have false positive or false negative rates. A new detection program called newborn genetic screening (NBG...

    Authors: Xin Wang, Xian-Wei Guan, Yan-Yun Wang, Zhi-Lei Zhang, Ya-Hong Li, Pei-Ying Yang, Yun Sun and Tao Jiang
    Citation: Orphanet Journal of Rare Diseases 2022 17:322
    Content type: Research Published on:

  20. Lipoprotein lipase deficiency (LPLD) is an autosomal recessive inherited disorder caused by loss-of-function mutations in genes involved in the lipoprotein lipase pathway. It is characterised by chylomicronaem...

    Authors: Sasi Neelamekam, See Kwok, Rachel Malone, Anthony S. Wierzbicki and Handrean Soran
    Citation: Orphanet Journal of Rare Diseases 2017 12:156
    Content type: Research Published on:

  21. Patients with syndromic features frequently suffer from recurrent respiratory infections, but little is known about the spectrum of immunological abnormalities associated with their underlying chromosomal aber...

    Authors: Ellen Schatorjé, Michiel van der Flier, Mikko Seppänen, Michael Browning, Megan Morsheimer, Stefanie Henriet, João Farela Neves, Donald Cuong Vinh, Laia Alsina, Anete Grumach, Pere Soler-Palacin, Thomas Boyce, Fatih Celmeli, Ekaterini Goudouris, Grant Hayman, Richard Herriot…
    Citation: Orphanet Journal of Rare Diseases 2016 11:110
    Content type: Research Published on:

  22. A better understanding of the natural history of osteogenesis imperfecta (OI) in adulthood should improve health care for patients with this rare condition.

    Authors: Laura L. Tosi, Matthew E. Oetgen, Marianne K. Floor, Mary Beth Huber, Ann M. Kennelly, Robert J. McCarter, Melanie F. Rak, Barbara J. Simmonds, Melissa D. Simpson, Carole A. Tucker and Fergus E. McKiernan
    Citation: Orphanet Journal of Rare Diseases 2015 10:146
    Content type: Research Published on:

  23. Rare rheumatologic diseases are a heterogeneous group of conditions associated with high morbidity. As a whole group, rare rheumatologic diseases afflict millions of people demanding for effective therapies. T...

    Authors: Thomas Lutz, Anette Lampert, Georg F. Hoffmann and Markus Ries
    Citation: Orphanet Journal of Rare Diseases 2016 11:60
    Content type: Research Published on:

  24. High resolution genome-wide copy number analysis, routinely used in clinical diagnosis for several years, retrieves new and extremely rare copy number variations (CNVs) that provide novel candidate genes contr...

    Authors: Fátima Lopes, Fátima Torres, Gabriela Soares, Mafalda Barbosa, João Silva, Frederico Duque, Miguel Rocha, Joaquim Sá, Guiomar Oliveira, Maria João Sá, Teresa Temudo, Susana Sousa, Carla Marques, Sofia Lopes, Catarina Gomes, Gisela Barros…
    Citation: Orphanet Journal of Rare Diseases 2019 14:164
    Content type: Research Published on:

  25. This paper reports on the ‘Prader-Willi Syndrome (PWS) Mental Health Research Strategy Workshop’ that took place in March 2015. PWS is characterized by a complex phenotype affecting multiple systems with a hig...

    Authors: Lauren Schwartz, Anthony Holland, Elisabeth Dykens, Theresa Strong, Elizabeth Roof and Jessica Bohonowych
    Citation: Orphanet Journal of Rare Diseases 2016 11:131
    Content type: Review Published on:

  26. Isovaleric aciduria (IVA), propionic aciduria (PA) and methylmalonic aciduria (MMA) are inherited organic acidurias (OAs) in which impaired organic acid metabolism induces hyperammonaemia arising partly from s...

    Authors: Vassili Valayannopoulos, Julien Baruteau, Maria Bueno Delgado, Aline Cano, Maria L. Couce, Mireia Del Toro, Maria Alice Donati, Angeles Garcia-Cazorla, David Gil-Ortega, Pedro Gomez-de Quero, Nathalie Guffon, Floris C. Hofstede, Sema Kalkan-Ucar, Mahmut Coker, Rosa Lama-More, Mercedes Martinez-Pardo Casanova…
    Citation: Orphanet Journal of Rare Diseases 2016 11:32
    Content type: Research Published on:

  27. Alpha-1 antitrypsin deficiency (AATD) is a rare hereditary condition that leads to decreased circulating alpha-1 antitrypsin (AAT) levels, significantly increasing the risk of serious lung and/or liver disease...

    Authors: María Torres-Durán, José Luis Lopez-Campos, Miriam Barrecheguren, Marc Miravitlles, Beatriz Martinez-Delgado, Silvia Castillo, Amparo Escribano, Adolfo Baloira, María Mercedes Navarro-Garcia, Daniel Pellicer, Lucía Bañuls, María Magallón, Francisco Casas and Francisco Dasí
    Citation: Orphanet Journal of Rare Diseases 2018 13:114
    Content type: Review Published on:

  28. Hereditary transthyretin amyloidosis (hATTR), alias ATTR variant (ATTRv) is a severe and disabling disease causing sensory and motor neuropathy, autonomic dysfunction, and cardiomyopathy. The progressive decli...

    Authors: Lorenza Magliano, Laura Obici, Claudia Sforzini, Anna Mazzeo, Massimo Russo, Francesco Cappelli, Silvia Fenu, Marco Luigetti, Matteo Tagliapietra, Chiara Gemelli, Luca Leonardi, Stefano Tozza, Luca Guglielmo Pradotto, Giulia Citarelli, Alessandro Mauro, Fiore Manganelli…
    Citation: Orphanet Journal of Rare Diseases 2021 16:163
    Content type: Research Published on:

  29. The development and approval of disease modifying treatments have dramatically changed disease progression in patients with spinal muscular atrophy (SMA). Nusinersen was approved in Europe in 2017 for the trea...

    Authors: Astrid Pechmann, Max Behrens, Katharina Dörnbrack, Adrian Tassoni, Franziska Wenzel, Sabine Stein, Sibylle Vogt, Daniela Zöller, Günther Bernert, Tim Hagenacker, Ulrike Schara-Schmidt, Maggie C. Walter, Astrid Bertsche, Katharina Vill, Matthias Baumann, Manuela Baumgartner…
    Citation: Orphanet Journal of Rare Diseases 2022 17:384
    Content type: Research Published on:

  30. Although metreleptin replacement therapy was shown to improve metabolic alterations in lipodystrophic syndromes, patients’ adherence and satisfaction with treatment have never been evaluated. The 20 patients w...

    Authors: Camille Vatier, Dina Kalbasi, Marie-Christine Vantyghem, Olivier Lascols, Isabelle Jéru, Anne Daguenel, Jean-François Gautier, Marion Buyse and Corinne Vigouroux
    Citation: Orphanet Journal of Rare Diseases 2019 14:177
    Content type: Research Published on:

  31. The Chronic Infantile Neurological Cutaneous and Articular (CINCA, or Neonatal-onset multisystem inflammatory disease NOMID) is a rare autoinflammatory disease identified in 1987 by Prieur et al., typically ch...

    Authors: Martina Finetti, Alessia Omenetti, Silvia Federici, Roberta Caorsi and Marco Gattorno
    Citation: Orphanet Journal of Rare Diseases 2016 11:167
    Content type: Review Published on:

  32. Because of their individual rarity, genetic diseases and other types of rare diseases are under-represented in healthcare coding systems; this contributes to a lack of ascertainment and recognition of their im...

    Authors: Ségolène Aymé, Bertrand Bellet and Ana Rath
    Citation: Orphanet Journal of Rare Diseases 2015 10:35
    Content type: Research Published on:

  33. Classic galactosemia is a rare inborn error of carbohydrate metabolism, caused by a severe deficiency of the enzyme galactose-1-phosphate uridylyltransferase (GALT). A galactose-restricted diet has proven to b...

    Authors: M. E. Rubio-Gozalbo, M. Haskovic, A. M. Bosch, B. Burnyte, A. I. Coelho, D. Cassiman, M. L. Couce, C. Dawson, D. Demirbas, T. Derks, F. Eyskens, M. T. Forga, S. Grunewald, J. Häberle, M. Hochuli, A. Hubert…
    Citation: Orphanet Journal of Rare Diseases 2019 14:86
    Content type: Research Published on:

  35. Vinblastine is the standard treatment for children with Langerhans cell histiocytosis (LCH). Whether this treatment could be extended to adults with LCH is questionable. This retrospective multicenter study in...

    Authors: Abdellatif Tazi, Gwenaël Lorillon, Julien Haroche, Antoine Neel, Stéphane Dominique, Achille Aouba, Jean-David Bouaziz, Constance de Margerie-Melon, Emmanuelle Bugnet, Vincent Cottin, Thibault Comont, Christian Lavigne, Jean-Emmanuel Kahn, Jean Donadieu and Sylvie Chevret
    Citation: Orphanet Journal of Rare Diseases 2017 12:95
    Content type: Research Published on:

  36. The worldwide landscape of patient registries in the neuromuscular disease (NMD) field has significantly changed in the last 10 years, with the international TREAT-NMD network acting as strong driver. At the s...

    Authors: Anna Ambrosini, Daniela Calabrese, Francesco Maria Avato, Felice Catania, Guido Cavaletti, Maria Carmela Pera, Antonio Toscano, Giuseppe Vita, Lucia Monaco and Davide Pareyson
    Citation: Orphanet Journal of Rare Diseases 2018 13:176
    Content type: Research Published on:
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172