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  1. Sialic acid storage diseases are neurodegenerative disorders characterized by accumulation of sialic acid in the lysosome. These disorders are caused by mutations in SLC17A5, the gene encoding sialin, a sialic ac...

    Authors: Maja Tarailo-Graovac, Britt I. Drögemöller, Wyeth W. Wasserman, Colin J. D. Ross, Ans M. W. van den Ouweland, Niklas Darin, Gittan Kollberg, Clara D. M. van Karnebeek and Maria Blomqvist
    Citation: Orphanet Journal of Rare Diseases 2017 12:28
  2. Inherited bleeding disorders (IBD) consist of a group of rare heterogeneous diseases, which require treatment for life. Management of these disorders is complex and costly. Therefore, good quality data of the ...

    Authors: Suely Meireles Rezende, Silvia Helena Lacerda Rodrigues, Kelly Neves Pinheiro Brito, Diego Lima Quintino da Silva, Marcos Lázaro Santo, Bárbara de Jesus Simões, Guilherme Genovez, Helder Teixeira Melo, João Paulo Baccara Araújo and Danila Augusta Accioly Varella Barca
    Citation: Orphanet Journal of Rare Diseases 2017 12:27
  3. Barth syndrome (BTHS) is a rare X-linked recessive disease characterized by cardiomyopathy, neutropenia, skeletal myopathy and growth delay. Early diagnosis and appropriate treatment may improve the prognosis ...

    Authors: Jian Wang, Ying Guo, Meirong Huang, Zhen Zhang, Junxue Zhu, Tingliang Liu, Lin Shi, Fen Li, Huimin Huang and Lijun Fu
    Citation: Orphanet Journal of Rare Diseases 2017 12:26
  4. Infants presenting with lysosomal acid lipase deficiency have marked failure to thrive, diarrhea, massive hepatosplenomegaly, anemia, rapidly progressive liver disease, and death typically in the first 6 month...

    Authors: Simon A. Jones, Sandra Rojas-Caro, Anthony G. Quinn, Mark Friedman, Sachin Marulkar, Fatih Ezgu, Osama Zaki, J. Jay Gargus, Joanne Hughes, Dominique Plantaz, Roshni Vara, Stephen Eckert, Jean-Baptiste Arnoux, Anais Brassier, Kim-Hanh Le Quan Sang and Vassili Valayannopoulos
    Citation: Orphanet Journal of Rare Diseases 2017 12:25
  5. We describe molecular diagnosis in a complex consanguineous family: four offspring presented with combinations of three distinctive phenotypes; non-syndromic hearing loss (NSHL), an unusual skeletal phenotype ...

    Authors: Polona Le Quesne Stabej, Chela James, Louise Ocaka, Mehmet Tekman, Stephanie Grunewald, Emma Clement, Horia C. Stanescu, Robert Kleta, Deborah Morrogh, Alistair Calder, Hywel J. Williams and Maria Bitner-Glindzicz
    Citation: Orphanet Journal of Rare Diseases 2017 12:24
  6. Gaucher disease (GD) is caused by mutations in the GBA1 gene which encodes lysosomal β-glucocerebrosidase (GCase). In GD, partial or complete loss of GCase activity causes the accumulation of the glycolipids g...

    Authors: Mario de la Mata, David Cotán, Manuel Oropesa-Ávila, Marina Villanueva-Paz, Isabel de Lavera, Mónica Álvarez-Córdoba, Raquel Luzón-Hidalgo, Juan M. Suárez-Rivero, Gustavo Tiscornia and José A. Sánchez-Alcázar
    Citation: Orphanet Journal of Rare Diseases 2017 12:23
  7. Niemann-Pick type C (NPC) disease is a lysosomal storage disorder characterized by a wide clinical spectrum and non-specific conventional magnetic resonance imaging (MRI) signs. As substrate reduction therapy ...

    Authors: Marion Masingue, Isaac Adanyeguh, Yann Nadjar, Frédéric Sedel, Damien Galanaud and Fanny Mochel
    Citation: Orphanet Journal of Rare Diseases 2017 12:22
  8. Arginine:glycine amidinotransferase deficiency (AGAT-d) is a very rare inborn error of creatine synthesis mainly characterized by absence of brain Creatine (Cr) peak, intellectual disability, severe language i...

    Authors: Roberta Battini, M. Grazia Alessandrì, Claudia Casalini, Manuela Casarano, Michela Tosetti and Giovanni Cioni
    Citation: Orphanet Journal of Rare Diseases 2017 12:21
  9. Sternocostoclavicular hyperostosis (SCCH; ORPHA178311) is a rare inflammatory disorder of the axial skeleton, the precise pathophysiology of which remains to be established. We addressed the potential associat...

    Authors: Pieter A. Valkema, Clare H. Luymes, Janneke E. Witteveen, Saskia le Cessie, Natasha M. Appelman-Dijkstra, Pancras C. W. Hogendoorn and Neveen A. T. Hamdy
    Citation: Orphanet Journal of Rare Diseases 2017 12:20
  10. The calcium-sensing receptor (CaSR) plays a pivotal role in systemic calcium metabolism by regulating parathyroid hormone secretion and urinary calcium excretion. The diseases caused by an abnormality of the C...

    Authors: C. Vahe, K. Benomar, S. Espiard, L. Coppin, A. Jannin, M. F. Odou and M. C. Vantyghem
    Citation: Orphanet Journal of Rare Diseases 2017 12:19
  11. The purpose of this study was to describe the sleep structure (especially slow wave sleep) in adults with congenital central hypoventilation syndrome (CCHS), a rare genetic disease due to mutations in the PHOX...

    Authors: Valérie Attali, Christian Straus, Michel Pottier, Marie-Annick Buzare, Capucine Morélot-Panzini, Isabelle Arnulf and Thomas Similowski
    Citation: Orphanet Journal of Rare Diseases 2017 12:18
  12. The Committee for Orphan Medicinal Products (COMP) evaluates prevalence of rare conditions as one of the criteria for granting an orphan designation with a prevalence threshold of 5 in 10.000. At the time of M...

    Authors: Benedetta Polsinelli, Stelios Tsigkos, Frauke Naumann-Winter, Segundo Mariz and Bruno Sepodes
    Citation: Orphanet Journal of Rare Diseases 2017 12:17
  13. Although research in this area remains sparse, raising a child with some genetic disorders has been shown to adversely impact maternal health and family quality of life. The aim of this study was to investigat...

    Authors: Yuka Mori, Jenny Downs, Kingsley Wong, Barbara Anderson, Amy Epstein and Helen Leonard
    Citation: Orphanet Journal of Rare Diseases 2017 12:16
  14. Light chain (AL) amyloidosis is a rare disease characterized by misfolded amyloid protein deposits in tissues and vital organs, and little is known about the burden of AL amyloidosis on health-related quality ...

    Authors: Martha Bayliss, Kristen L. McCausland, Spencer D. Guthrie and Michelle K. White
    Citation: Orphanet Journal of Rare Diseases 2017 12:15
  15. Aromatic L-amino acid decarboxylase deficiency (AADCD) is a rare, autosomal recessive neurometabolic disorder that leads to a severe combined deficiency of serotonin, dopamine, norepinephrine and epinephrine. ...

    Authors: Tessa Wassenberg, Marta Molero-Luis, Kathrin Jeltsch, Georg F. Hoffmann, Birgit Assmann, Nenad Blau, Angeles Garcia-Cazorla, Rafael Artuch, Roser Pons, Toni S. Pearson, Vincenco Leuzzi, Mario Mastrangelo, Phillip L. Pearl, Wang Tso Lee, Manju A. Kurian, Simon Heales…
    Citation: Orphanet Journal of Rare Diseases 2017 12:12
  16. Mucolipidosis types II and III (ML II/III) are autosomal recessive disorders caused by a deficiency in the lysosomal enzyme N-acetylglucosamine-1-phosphotransferase. We investigated the molecular genetic chara...

    Authors: Mina Yang, Sung Yun Cho, Hyung-Doo Park, Rihwa Choi, Young-Eun Kim, Jinsup Kim, Soo-Youn Lee, Chang-Seok Ki, Jong-Won Kim, Young Bae Sohn, Junghan Song and Dong-Kyu Jin
    Citation: Orphanet Journal of Rare Diseases 2017 12:11
  17. Since the introduction of the orphan drugs legislation in Europe, it has been suggested that the general method of assessing drugs for reimbursement is not necessarily suitable for orphan drugs. The National I...

    Authors: C. Schey, P. F. M. Krabbe, M. J. Postma and M. P. Connolly
    Citation: Orphanet Journal of Rare Diseases 2017 12:10
  18. Lucerastat, an inhibitor of glucosylceramide synthase, has the potential to restore the balance between synthesis and degradation of glycosphingolipids in glycolipid storage disorders such as Gaucher disease a...

    Authors: N. Guérard, O. Morand and J. Dingemanse
    Citation: Orphanet Journal of Rare Diseases 2017 12:9
  19. Anaphylaxis is defined as a severe life-threatening generalized or systemic hypersensitivity reaction. The difficulty of coding anaphylaxis fatalities under the World Health Organization (WHO) International Cl...

    Authors: Luciana Kase Tanno, F. Estelle R. Simons, Isabella Annesi-Maesano, Moises A. Calderon, Ségolène Aymé and Pascal Demoly
    Citation: Orphanet Journal of Rare Diseases 2017 12:8
  20. Mucopolysaccharidosis type II, an X-linked recessive disorder is the most common lysosomal storage disease detected among Filipinos. This is a case series involving 23 male Filipino patients confirmed to have ...

    Authors: Mary Anne D. Chiong, Daffodil M. Canson, Mary Ann R. Abacan, Melissa Mae P. Baluyot, Cynthia P. Cordero and Catherine Lynn T. Silao
    Citation: Orphanet Journal of Rare Diseases 2017 12:7
  21. Nude severe combined immunodeficiency is a rare inherited disease caused by autosomal recessive loss-of-function mutations in FOXN1. This gene encodes a transcription factor essential for the development of the t...

    Authors: Ioanna A. Rota and Fatima Dhalla
    Citation: Orphanet Journal of Rare Diseases 2017 12:6
  22. Hereditary angioedema caused by C1-inhibitor deficiency (C1-INH-HAE) is a rare, autosomal dominant disorder. C1-INH-HAE is characterized by edema–formation, which may occur in response to stress. The individua...

    Authors: Zsuzsanna Zotter, Zsolt Nagy, Attila Patócs, Dorottya Csuka, Nóra Veszeli, Kinga Viktória Kőhalmi and Henriette Farkas
    Citation: Orphanet Journal of Rare Diseases 2017 12:5
  23. Moebius Sequence (MS) is a rare disorder defined by bilateral congenital paralysis of the abducens and facial nerves in combination with various odontological, craniofacial, ophthalmological and orthopaedic co...

    Authors: Line Kjeldgaard Pedersen, Rikke Damkjær Maimburg, Jens Michael Hertz, Hans Gjørup, Thomas Klit Pedersen, Bjarne Møller-Madsen and John Rosendahl Østergaard
    Citation: Orphanet Journal of Rare Diseases 2017 12:4
  24. Lysinuric protein intolerance (LPI) is a rare metabolic disease resulting from recessive-inherited mutations in the SLC7A7 gene encoding the cationic amino-acids transporter subunit y+LAT1. The disease is charact...

    Authors: Wladimir Mauhin, Florence Habarou, Stéphanie Gobin, Aude Servais, Anaïs Brassier, Coraline Grisel, Célina Roda, Graziella Pinto, Despina Moshous, Fahd Ghalim, Pauline Krug, Nelly Deltour, Clément Pontoizeau, Sandrine Dubois, Murielle Assoun, Louise Galmiche…
    Citation: Orphanet Journal of Rare Diseases 2017 12:3
  25. Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disorder. Many gaps remain in the understanding of TSC because of the complexity in clinical presentation. The TuberOus SClerosis registry to ...

    Authors: John C. Kingswood, Guillaume B. d’Augères, Elena Belousova, José C. Ferreira, Tom Carter, Ramon Castellana, Vincent Cottin, Paolo Curatolo, Maria Dahlin, Petrus J. de Vries, Martha Feucht, Carla Fladrowski, Gabriella Gislimberti, Christoph Hertzberg, Sergiusz Jozwiak, John A. Lawson…
    Citation: Orphanet Journal of Rare Diseases 2017 12:2
  26. More than 6,800 rare diseases and conditions have been identified in the US, which affect 25–30 million Americans. In 1983, the US Congress enacted the Orphan Drug Act (ODA) to encourage the development and ma...

    Authors: R. Rodriguez-Monguio, T. Spargo and E. Seoane-Vazquez
    Citation: Orphanet Journal of Rare Diseases 2017 12:1
  27. Canavan disease is a devastating autosomal recessive leukodystrophy leading to spongiform degeneration of the white matter. There is no cure or treatment for Canavan disease, and disease progression is poorly ...

    Authors: Steven T. Merrill, Gary R. Nelson, Nicola Longo and Joshua L. Bonkowsky
    Citation: Orphanet Journal of Rare Diseases 2016 11:169
  28. We sought to understand the experiences of parents/caregivers of children with inherited metabolic diseases (IMD) in order to inform strategies for supporting patients and their families. We investigated their...

    Authors: Shabnaz Siddiq, Brenda J. Wilson, Ian D. Graham, Monica Lamoureux, Sara D. Khangura, Kylie Tingley, Laure Tessier, Pranesh Chakraborty, Doug Coyle, Sarah Dyack, Jane Gillis, Cheryl Greenberg, Robin Z. Hayeems, Shailly Jain-Ghai, Jonathan B. Kronick, Anne-Marie Laberge…
    Citation: Orphanet Journal of Rare Diseases 2016 11:168
  29. 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
  30. Pregnancies of women displaying achondroplasia are at high risk of adverse events. Early sonographic assessment of affected women can indicate an unusually long cervical length. It is the consequence of pathol...

    Authors: Alexandre J. Vivanti, Anne-Gael Cordier, Geneviève Baujat and Alexandra Benachi
    Citation: Orphanet Journal of Rare Diseases 2016 11:166
  31. The occurrence of familial forms of sarcoidosis (OMIM 181100) suggests a genetic predisposition. The involvement of butyrophilin-like 2 (BTNL2) gene (rs2076530 variant) has to be investigated.

    Authors: Yves Pacheco, Alain Calender, Dominique Israël-Biet, Pascal Roy, Serge Lebecque, Vincent Cottin, Diane Bouvry, Hilario Nunes, Pascal Sève, Laurent Pérard, Gilles Devouassoux, Nathalie Freymond, Chahira Khouatra, Benoît Wallaert, Raphaelle Lamy, Mad-Hélénie Elsensohn…
    Citation: Orphanet Journal of Rare Diseases 2016 11:165
  32. A shift in biochemical research towards drugs for rare diseases has created new challenges for the pharmaceutical industry, government regulators, health technology assessment agencies, and public and private ...

    Authors: Ghayath Janoudi, William Amegatse, Brendan McIntosh, Chander Sehgal and Trevor Richter
    Citation: Orphanet Journal of Rare Diseases 2016 11:164
  33. Patients with Congenital Hyperinsulinism (CHI) due to mutations in K-ATP channel genes (K-ATP CHI) are increasingly treated by conservative medical therapy without pancreatic surgery. However, the natural hist...

    Authors: Maria Salomon-Estebanez, Sarah E. Flanagan, Sian Ellard, Lindsey Rigby, Louise Bowden, Zainab Mohamed, Jacqueline Nicholson, Mars Skae, Caroline Hall, Ross Craigie, Raja Padidela, Nuala Murphy, Tabitha Randell, Karen E. Cosgrove, Mark J. Dunne and Indraneel Banerjee
    Citation: Orphanet Journal of Rare Diseases 2016 11:163
  34. Aspartylglucosaminuria (AGU), a recessively inherited lysosomal storage disease, is the most common disorder of glycoprotein degradation with a high prevalence in the Finnish population. It is a lifelong condi...

    Authors: Maria Arvio and Ilkka Mononen
    Citation: Orphanet Journal of Rare Diseases 2016 11:162
  35. Rare disease represents one of the most significant issues facing the medical community and health care providers worldwide, yet the majority of these disorders never emerge from their obscurity, drawing littl...

    Authors: Steven U. Walkley, Cristin D. Davidson, Jonathan Jacoby, Philip D. Marella, Elizabeth A. Ottinger, Christopher P. Austin, Forbes D. Porter, Charles H. Vite and Daniel S. Ory
    Citation: Orphanet Journal of Rare Diseases 2016 11:161
  36. Health-related quality of life of adults with osteogenesis imperfecta (OI), fibrous dysplasia (FD) and X-linked hypophosphatemia (XLH) remains poorly described. The aim of this study was to describe the HRQoL ...

    Authors: Lydia Forestier-Zhang, Laura Watts, Alison Turner, Harriet Teare, Jane Kaye, Joe Barrett, Cyrus Cooper, Richard Eastell, Paul Wordsworth, Muhammad K. Javaid and Rafael Pinedo-Villanueva
    Citation: Orphanet Journal of Rare Diseases 2016 11:160
  37. Ataxia telangiectasia (A-T) is an autosomal recessive disorder primarily characterized by cerebellar degeneration, telangiectasia, immunodeficiency, cancer susceptibility and radiation sensitivity. A-T is ofte...

    Authors: Cynthia Rothblum-Oviatt, Jennifer Wright, Maureen A. Lefton-Greif, Sharon A. McGrath-Morrow, Thomas O. Crawford and Howard M. Lederman
    Citation: Orphanet Journal of Rare Diseases 2016 11:159
  38. Rett syndrome (RTT) is a rare disease but still one of the most abundant causes for intellectual disability in females. Typical symptoms are onset at month 6–18 after normal pre- and postnatal development, los...

    Authors: Friederike Ehrhart, Susan L. M. Coort, Elisa Cirillo, Eric Smeets, Chris T. Evelo and Leopold M. G. Curfs
    Citation: Orphanet Journal of Rare Diseases 2016 11:158
  39. Hereditary Haemorrhagic Telangiectasia (HHT) is a dominantly inheritable disorder, with a wide variety of clinical manifestations due to presence of multiple arteriovenous manifestations. The most common mutat...

    Authors: Anette Kjeldsen, Katrine Saldern Aagaard, Pernille Mathiesen Tørring, Sören Möller and Anders Green
    Citation: Orphanet Journal of Rare Diseases 2016 11:157
  40. Symmetrical acrokeratoderma is a recently described dermatosis in young adult males of Chinese descent. In this report, we describe a series of five cases of symmetrical acrokeratoderma from India. All 5 patie...

    Authors: Keshavamurthy Vinay, Gitesh U. Sawatkar, Uma N. Saikia and Sunil Dogra
    Citation: Orphanet Journal of Rare Diseases 2016 11:156
  41. To explore the current models of practice in centres delivering specialist care for children with disorders of sex development (DSD), an international survey of 124 clinicians, identified through DSDnet and th...

    Authors: Andreas Kyriakou, Arianne Dessens, Jillian Bryce, Violeta Iotova, Anders Juul, Maciej Krawczynski, Agneta Nordenskjöld, Marta Rozas, Caroline Sanders, Olaf Hiort and S. Faisal Ahmed
    Citation: Orphanet Journal of Rare Diseases 2016 11:155
  42. Patients are becoming increasingly involved in research which can promote innovation through novel ideas, support patient-centred actions, and facilitate drug development. For rare diseases, registries that co...

    Authors: Len Woodward, Sally Johnson, Johan Vande Walle, Joran Beck, Christoph Gasteyger, Christoph Licht and Gema Ariceta
    Citation: Orphanet Journal of Rare Diseases 2016 11:154
  43. Patients with Prader-Willi syndrome (PWS) have a cognitive impairment. Growth hormone (GH) treatment during childhood improves cognitive functioning, while cognition deteriorates in GH-untreated children with ...

    Authors: R. J. Kuppens, E. F. Mahabier, N. E. Bakker, E. P. C. Siemensma, S. H. Donze and A. C. S. Hokken-Koelega
    Citation: Orphanet Journal of Rare Diseases 2016 11:153
  44. In health services research, there is a special emphasis on the transition from adolescence into adulthood. During this transition period, adolescents change from pediatric to adult medical care. This process ...

    Authors: Anke Wagner, Sara Yvonne Brucker, Esther Ueding, Dagmar Gröber-Grätz, Elisabeth Simoes, Katharina Rall, Andrea Kronenthaler, Norbert Schäffeler and Monika A. Rieger
    Citation: Orphanet Journal of Rare Diseases 2016 11:152
  45. The internet, and social media platforms, are increasingly being used by substantial sectors of the worldwide population. By engaging effectively with online and social media, scientists and clinicians can obt...

    Authors: William Davies
    Citation: Orphanet Journal of Rare Diseases 2016 11:151
  46. Research into rare diseases is becoming more common, with recognition of the significant diagnostic and therapeutic care gaps. Registries are considered a key research methodology to address rare diseases. Thi...

    Authors: M. K. Javaid, L. Forestier-Zhang, L. Watts, A. Turner, C. Ponte, H. Teare, D. Gray, N. Gray, R. Popert, J. Hogg, J. Barrett, R. Pinedo-Villanueva, C. Cooper, R. Eastell, N. Bishop, R. Luqmani…
    Citation: Orphanet Journal of Rare Diseases 2016 11:150
  47. Sporadic inclusion body myositis (sIBM) is the most prevalent acquired muscle disease in the elderly. sIBM is an intractable and progressive disease of unknown cause and without effective treatment. The etiolo...

    Authors: Naoki Suzuki, Madoka Mori-Yoshimura, Satoshi Yamashita, Satoshi Nakano, Ken-ya Murata, Yukie Inamori, Naoko Matsui, En Kimura, Hirofumi Kusaka, Tomoyoshi Kondo, Itsuro Higuchi, Ryuji Kaji, Maki Tateyama, Rumiko Izumi, Hiroya Ono, Masaaki Kato…
    Citation: Orphanet Journal of Rare Diseases 2016 11:146
  48. Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease that involves the death of neurons. ALS is associated with many gene mutations as previously studied. In order to explore the molecular mechan...

    Authors: Meena Kumari Kotni, Mingzhu Zhao and Dong-Qing Wei
    Citation: Orphanet Journal of Rare Diseases 2016 11:148