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  1. The Chinese researchers have made significant progress in studying rare diseases in the recent years. From 2000 to 2014, 269 out of 1892 clinically relevant original research papers published on high impact jo...

    Authors: Li Yang, Chang Su, Ashley M. Lee and Harrison X. Bai
    Citation: Orphanet Journal of Rare Diseases 2015 10:142
  2. Authors: Mariana Gospodinova, Stayko Sarafov, Velina Guergueltcheva, Andrey Kirov, Teodora Chamova, Albena Todorova, Ivailo Tournev and Stefan Denchev
    Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P54

    This article is part of a Supplement: Volume 10 Supplement 1

  3. Authors: Marta Vilà-Rico, Sebastián Azorín Contesse, José E Barcena Llona, Ricardo Rojas-García, Fernando Martínez Valle, Antoni Planas, Francesc Canals and Josep M Campistol
    Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P53

    This article is part of a Supplement: Volume 10 Supplement 1

  4. Authors: Esther González-López, María Gallego-Delgado, Francisco Muñoz-Beamud, Juan Buades, Lucía Galán, Jose Luis Muñoz Blanco, Jesús González-Mirelis and Pablo García-Pavía
    Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P44

    This article is part of a Supplement: Volume 10 Supplement 1

  5. Authors: Marie Théaudin, Cécile Cauquil, Teresa Antonini, Vincent Algalarrondo, Céline Labeyrie, Sophie Aycaguer, Marie Kubezyk, Colombe Lemoine, Géraldine Nonnez, Agnès Morier, Nadia Kouchi, Amandine Darras, Nathalie Coste, Mireille Clément and David Adams
    Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):I24

    This article is part of a Supplement: Volume 10 Supplement 1

  6. Authors: Rito Bergemann, Elizabeth Ackermann, Brett Monia, Andrew Shenker and Peter Dyck
    Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):O22

    This article is part of a Supplement: Volume 10 Supplement 1

  7. Mucopolysaccharidosis type II (MPS II, Hunter syndrome), is caused by a deficiency of iduronate-2-sulfatase (IDS). Despite the therapeutic effect of intravenous enzyme replacement therapy (ERT), the central ne...

    Authors: Sung Yoon Cho, Jeehun Lee, Ah-Ra Ko, Min Jung Kwak, Sujin Kim, Young Bae Sohn, Sung Won Park and Dong-Kyu Jin
    Citation: Orphanet Journal of Rare Diseases 2015 10:141
  8. Clinical trials for treatments indicated for orphan diseases may be limited due to the low prevalence of such diseases; this can result in implications for both regulatory and health economic perspectives. Thi...

    Authors: Julie Winstone, Shkun Chadda, Stephen Ralston and Peter Sajosi
    Citation: Orphanet Journal of Rare Diseases 2015 10:139
  9. Phosphomannomutase deficiency (PMM2-CDG) is the most frequent congenital disorder of glycosylation. The cerebellum is nearly always affected in PMM2-CDG patients, a cerebellar atrophy progression is observed, ...

    Authors: Mercedes Serrano, Víctor de Diego, Jordi Muchart, Daniel Cuadras, Ana Felipe, Alfons Macaya, Ramón Velázquez, M. Pilar Poo, Carmen Fons, M. Mar O’Callaghan, Angels García-Cazorla, Cristina Boix, Bernabé Robles, Francisco Carratalá, Marisa Girós, Paz Briones…
    Citation: Orphanet Journal of Rare Diseases 2015 10:138
  10. Quantifying resource utilization in the inpatient care of congenital heart diease is clinically relevant. Our purpose is to measure the investment of inpatient care resources to achieve survival in hypoplastic...

    Authors: David A. Danford, Quentin Karels, Aparna Kulkarni, Aysha Hussain, Yunbin Xiao and Shelby Kutty
    Citation: Orphanet Journal of Rare Diseases 2015 10:137
  11. Immunosuppressive drugs are used in the treatment of inflammatory and autoimmune diseases, as well as in transplantation. Frequently prescribed in young people, these treatments may have deleterious effects on...

    Authors: Clara Leroy, Jean-Marc Rigot, Maryse Leroy, Christine Decanter, Kristell Le Mapihan, Anne-Sophie Parent, Anne-Claire Le Guillou, Ibrahim Yakoub-Agha, Sébastien Dharancy, Christian Noel and Marie-Christine Vantyghem
    Citation: Orphanet Journal of Rare Diseases 2015 10:136
  12. Hereditary Fibrosing Poikiloderma (HFP) with tendon contractures, myopathy and pulmonary fibrosis (POIKTMP [MIM 615704]) is a very recently described entity of syndromic inherited poikiloderma. Previously by u...

    Authors: Sandra Mercier, Sébastien Küry, Emmanuelle Salort-Campana, Armelle Magot, Uchenna Agbim, Thomas Besnard, Nathalie Bodak, Chantal Bou-Hanna, Flora Bréhéret, Perrine Brunelle, Florence Caillon, Brigitte Chabrol, Valérie Cormier-Daire, Albert David, Bruno Eymard, Laurence Faivre…
    Citation: Orphanet Journal of Rare Diseases 2015 10:135
  13. Heterozygous loss of function mutations within the Filamin A gene in Xq28 are the most frequent cause of bilateral neuronal periventricular nodular heterotopia (PVNH). Most affected females are reported to ini...

    Authors: Max Lange, Burkhard Kasper, Axel Bohring, Frank Rutsch, Gerhard Kluger, Sabine Hoffjan, Stephanie Spranger, Anne Behnecke, Andreas Ferbert, Andreas Hahn, Barbara Oehl-Jaschkowitz, Luitgard Graul-Neumann, Katharina Diepold, Isolde Schreyer, Matthias K. Bernhard, Franziska Mueller…
    Citation: Orphanet Journal of Rare Diseases 2015 10:134
  14. The lysosomal storage disorder, Niemann Pick type C1 (NPC1), presents a variable phenotype including neurovisceral and neurological symptoms. 2-Hydroxypropyl-ß-cyclodextrin (HPßCD)-based therapies are presentl...

    Authors: Giampiero Palladino, Stefano Loizzo, Andrea Fortuna, Sonia Canterini, Fioretta Palombi, Robert P. Erickson, Franco Mangia and Maria Teresa Fiorenza
    Citation: Orphanet Journal of Rare Diseases 2015 10:133
  15. The activation of plasma enzyme systems contributes to hereditary angioedema attacks. We aimed to study the activation markers of the fibrinolytic, coagulation, and contact systems in a larger number of paired...

    Authors: Dorottya Csuka, Nóra Veszeli, Éva Imreh, Zsuzsanna Zotter, Judit Skopál, Zoltán Prohászka, Lilian Varga and Henriette Farkas
    Citation: Orphanet Journal of Rare Diseases 2015 10:132
  16. Enzyme replacement therapy (ERT) with laronidase, (recombinant human α-L-iduronidase; Aldurazyme) is the primary treatment option for patients with attenuated mucopolysaccharidosis type I (MPS I). This study e...

    Authors: Nouriya A. Al-Sannaa, Luisa Bay, Deborah S. Barbouth, Youssef Benhayoun, Cyril Goizet, Norberto Guelbert, Simon A. Jones, Sandra Obikawa Kyosen, Ana Maria Martins, Chanika Phornphutkul, Celia Reig, Rebecca Pleat, Shari Fallet and Iva Ivanovska Holder
    Citation: Orphanet Journal of Rare Diseases 2015 10:131
  17. Alpha 1 antitrypsin (A1AT) deficiency (A1ATD) is potentially associated with a high degree of liver and/or lung disease. Apart from the most frequent deficiency alleles, Pi S and Pi Z, some A1AT alleles of clinic...

    Authors: Philippe Joly, Olivier Guillaud, Valérie Hervieu, Alain Francina, Jean-François Mornex and Colette Chapuis-Cellier
    Citation: Orphanet Journal of Rare Diseases 2015 10:130
  18. 3MC1 syndrome is a rare autosomal recessive disorder characterized by intellectual disability, short stature and distinct craniofacial, umbilical, and sacral anomalies. Five mutations in MASP1, encoding lectin co...

    Authors: Tahir Atik, Asuman Koparir, Guney Bademci, Joseph Foster II, Umut Altunoglu, Gül Yesiltepe Mutlu, Sarah Bowdin, Nursel Elcioglu, Gulsen A. Tayfun, Sevinc Sahin Atik, Mustafa Ozen, Ferda Ozkinay, Yasemin Alanay, Hulya Kayserili, Steffen Thiel and Mustafa Tekin
    Citation: Orphanet Journal of Rare Diseases 2015 10:128
  19. Primary erythromelalgia (PE ORPHA90026) is a rare autosomal dominant neuropathy characterized by the combination of recurrent burning pain, warmth and redness of the extremities. The incidence rate of PE range...

    Authors: Zhaoli Tang, Zhao Chen, Beisha Tang and Hong Jiang
    Citation: Orphanet Journal of Rare Diseases 2015 10:127
  20. Tylosis (hyperkeratosis palmaris et plantaris) is characterised by focal thickening of the skin of the hands and feet and is associated with a very high lifetime risk of developing squamous cell carcinoma of t...

    Authors: Anthony Ellis, Janet M. Risk, Thiviyani Maruthappu and David P. Kelsell
    Citation: Orphanet Journal of Rare Diseases 2015 10:126
  21. To explore long-term effects of agalsidase alfa on Fabry disease cardiomyopathy in adults.

    Authors: Christoph Kampmann, Amandine Perrin and Michael Beck
    Citation: Orphanet Journal of Rare Diseases 2015 10:125

    The Erratum to this article has been published in Orphanet Journal of Rare Diseases 2016 11:95

  22. In order to plan and improve provision of comprehensive care in Huntington’s disease (HD), it is critical to understand the gaps in healthcare and social support services provided to HD patients. Research has ...

    Authors: Marleen R. van Walsem, Emilie I. Howe, Kristin Iversen, Jan C. Frich and Nada Andelic
    Citation: Orphanet Journal of Rare Diseases 2015 10:124
  23. Mutations in the gene ATP1A3 have recently been identified to be prevalent in patients with alternating hemiplegia of childhood (AHC2). Based on a large series of patients with AHC, we set out to identify the spe...

    Authors: Eleni Panagiotakaki, Elisa De Grandis, Michela Stagnaro, Erin L. Heinzen, Carmen Fons, Sanjay Sisodiya, Boukje de Vries, Christophe Goubau, Sarah Weckhuysen, David Kemlink, Ingrid Scheffer, Gaëtan Lesca, Muriel Rabilloud, Amna Klich, Alia Ramirez-Camacho, Adriana Ulate-Campos…
    Citation: Orphanet Journal of Rare Diseases 2015 10:123
  24. Aim of this study was to verify a systematic and practical categorization system that allows dynamic classification of pediatric DPLD irrespective of completeness of patient data.

    Authors: Matthias Griese, Armin Irnstetter, Meike Hengst, Helen Burmester, Felicitas Nagel, Jan Ripper, Maria Feilcke, Ingo Pawlita, Florian Gothe, Matthias Kappler, Andrea Schams, Traudl Wesselak, Daniela Rauch, Thomas Wittmann, Peter Lohse, Frank Brasch…
    Citation: Orphanet Journal of Rare Diseases 2015 10:122
  25. Mucopolysaccharidosis type I (MPS I) is caused by the deficiency of alpha-L-iduronidase (IDUA), which is involved in the degradation of glycosaminoglycans (GAGs), such as heparan sulfate and dermatan sulfate i...

    Authors: Chihwa Kim, Min Jung Kwak, Sung Yoon Cho, Ah-ra Ko, Jinguen Rheey, Jeong-Yi Kwon, Yokyung Chung and Dong-Kyu Jin
    Citation: Orphanet Journal of Rare Diseases 2015 10:121
  26. Congenital hyperinsulinism (CHI) is the most frequent cause of hypoglycemia in children. In addition to increased peripheral glucose utilization, dysregulated insulin secretion induces profound hypoglycemia an...

    Authors: Arianna Maiorana, Lucilla Manganozzi, Fabrizio Barbetti, Silvia Bernabei, Giorgia Gallo, Raffaella Cusmai, Stefania Caviglia and Carlo Dionisi-Vici
    Citation: Orphanet Journal of Rare Diseases 2015 10:120
  27. Von Hippel-Lindau (VHL) disease is a rare oncological disease with an incidence of 1:36,000, and is characterized by the growth of different types of tumors: hemangioblastomas in the central nervous system (CN...

    Authors: Virginia Albiñana, Karina Villar Gómez de las Heras, Gemma Serrano-Heras, Tomás Segura, Ana Belén Perona-Moratalla, Mercedes Mota-Pérez, José María de Campos and Luisa María Botella
    Citation: Orphanet Journal of Rare Diseases 2015 10:118
  28. Behçet’s Disease (BD) is a chronic auto-inflammatory, multisystem relapsing/remitting disorder of unknown aetiology. Oro-genital ulceration is a key feature of the disease and has a major impact on the patient...

    Authors: Amal Senusi, Noha Seoudi, Lesley Ann Bergmeier and Farida Fortune
    Citation: Orphanet Journal of Rare Diseases 2015 10:117
  29. Paediatric chordomas are rare malignant tumours arising from primitive notochordal remnants with a high rate of recurrence. Only 5 % of them occur in the first two decades such less than 300 paediatric cases h...

    Authors: Kévin Beccaria, Christian Sainte-Rose, Michel Zerah and Stéphanie Puget
    Citation: Orphanet Journal of Rare Diseases 2015 10:116
  30. Ichthyosis with confetti (IWC) is an autosomal dominant congenital ichthyosis also known as ichthyosis variegata or congenital reticular ichthyosiform erythroderma. It manifests at birth with generalized ichth...

    Authors: Liliana Guerra, Andrea Diociaiuti, May El Hachem, Daniele Castiglia and Giovanna Zambruno
    Citation: Orphanet Journal of Rare Diseases 2015 10:115
  31. Meier-Gorlin syndrome (MGS) is a rare autosomal recessive primordial dwarfism disorder, characterized by microtia, patellar applasia/hypoplasia, and a proportionate short stature. Associated clinical features ...

    Authors: Sonja A. de Munnik, Elisabeth H. Hoefsloot, Jolt Roukema, Jeroen Schoots, Nine VAM Knoers, Han G. Brunner, Andrew P. Jackson and Ernie MHF Bongers
    Citation: Orphanet Journal of Rare Diseases 2015 10:114
  32. Fabry-associated pain may be the first symptom of Fabry disease (FD) and presents with a unique phenotype including mostly acral burning triggerable pain attacks, evoked pain, pain crises, and permanent pain. ...

    Authors: Barbara Magg, Christoph Riegler, Silke Wiedmann, Peter Heuschmann, Claudia Sommer and Nurcan Üçeyler
    Citation: Orphanet Journal of Rare Diseases 2015 10:113