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  1. Epilepsy occurs in up to 90 % of all individuals with tuberous sclerosis complex (TSC). In 67 % disease onset is during childhood. In ≥ 50 % seizures are refractory to currently available treatment options.

    Authors: Sharon Samueli, Klaus Abraham, Anastasia Dressler, Gudrun Gröppel, Angelika Mühlebner-Fahrngruber, Theresa Scholl, Gregor Kasprian, Franco Laccone and Martha Feucht
    Citation: Orphanet Journal of Rare Diseases 2016 11:145
  2. O1 The European Social Preferences Measurement (ESPM) study project: social cost value analysis, budget impact, commercial life cycle revenue management, and the economics of biopharmaceutical Research & Devel...

    Authors: Michael Schlander, Søren Holm, Erik Nord, Jeff Richardson, Silvio Garattini, Peter Kolominsky-Rabas, Deborah Marshall, Ulf Persson, Maarten Postma, Steven Simoens, Oriol de Solà Morales, Keith Tolley, Mondher Toumi, Harry Telser, James R Bonham, Helmut Hintner…
    Citation: Orphanet Journal of Rare Diseases 2016 11(Suppl 1):143

    This article is part of a Supplement: Volume 11 Supplement 1

  3. Rare diseases (RDs) are often neglected because they affect a small percentage of the population (6–8 %), which makes research and development of new therapies challenging processes. Easy access to high-qualit...

    Authors: Chiara Baldo, Lorena Casareto, Alessandra Renieri, Giuseppe Merla, Barbara Garavaglia, Stefano Goldwurm, Elena Pegoraro, Maurizio Moggio, Marina Mora, Luisa Politano, Luca Sangiorgi, Raffaella Mazzotti, Valeria Viotti, Ilaria Meloni, Maria Teresa Pellico, Chiara Barzaghi…
    Citation: Orphanet Journal of Rare Diseases 2016 11:142
  4. The data from cohorts of childhood-onset granulomatosis with polyangiitis (GPA) and microscopic polyangiitis (MPA) remain scarce and heterogeneous. We aimed to analyse the features at presentation, therapeutic...

    Authors: Michele Iudici, Pierre Quartier, Benjamin Terrier, Luc Mouthon, Loïc Guillevin and Xavier Puéchal
    Citation: Orphanet Journal of Rare Diseases 2016 11:141
  5. Pontocerebellar hypoplasia type 6 (PCH6) is a mitochondrial disease caused by mutations in the RARS2 gene. RARS2 encodes mitochondrial arginyl transfer RNA synthetase, an enzyme involved in mitochondrial protein ...

    Authors: S. Lühl, H. Bode, W. Schlötzer, M. Bartsakoulia, R. Horvath, A. Abicht, M. Stenzel, J. Kirschner and S. C. Grünert
    Citation: Orphanet Journal of Rare Diseases 2016 11:140
  6. The group of ELAC2-related encephalomyopathies is a recent addition to the rapidly growing heterogeneous mitochondrial disorders.

    Authors: Nadia A. Akawi, Salma Ben-Salem, Jozef Hertecant, Anne John, Thachillath Pramathan, Praseetha Kizhakkedath, Bassam R. Ali and Lihadh Al-Gazali
    Citation: Orphanet Journal of Rare Diseases 2016 11:139
  7. 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
  8. DNA ligase IV deficiency is a rare primary immunodeficiency, LIG4 syndrome, often associated with other systemic features. DNA ligase IV is part of the non-homologous end joining mechanism, required to repair ...

    Authors: Thomas Altmann and Andrew R. Gennery
    Citation: Orphanet Journal of Rare Diseases 2016 11:137
  9. Integrin α3 (ITGA3) gene mutations are associated with Interstitial Lung disease, Nephrotic syndrome and Epidermolysis bullosa (ILNEB syndrome). To date only six patients are reported: all carried homozygous ITGA...

    Authors: Elisa Adele Colombo, Luigina Spaccini, Ludovica Volpi, Gloria Negri, Davide Cittaro, Dejan Lazarevic, Salvatore Zirpoli, Andrea Farolfi, Cristina Gervasini, Maria Vittoria Cubellis and Lidia Larizza
    Citation: Orphanet Journal of Rare Diseases 2016 11:136
  10. Innovative trial designs are sought to streamline drug development in rare diseases. Basket- and integrated protocol designs are two of these new strategies and have been applied in a handful oncologic trials....

    Authors: Ulla Derhaschnig, Jim Gilbert, Ulrich Jäger, Georg Böhmig, Georg Stingl and Bernd Jilma
    Citation: Orphanet Journal of Rare Diseases 2016 11:134
  11. Hereditary angioedema with C1-inhibitor deficiency (C1-INH-HAE) is characterized by recurrent attacks of swelling that affect various body sites. Such attacks are a frequent cause of visits to the emergency de...

    Authors: Veronica Squeglia, Alessandro Barbarino, Maria Bova, Carmela Gravante, Angelica Petraroli, Giuseppe Spadaro, Massimo Triggiani, Arturo Genovese and Gianni Marone
    Citation: Orphanet Journal of Rare Diseases 2016 11:133
  12. Rett Syndrome is a neurodevelopmental disorder almost exclusively affecting females, characterized by a broad clinical spectrum of signs and symptoms and a peculiar course. The disease affects different body s...

    Authors: G. Pini, S. Bigoni, L. Congiu, A. M. Romanelli, M. F. Scusa, P. Di Marco, A. Benincasa, P. Morescalchi, A. Ferlini, F. Bianchi, D. Tropea and M. Zappella
    Citation: Orphanet Journal of Rare Diseases 2016 11:132
  13. 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
  14. We examined an extended, consanguineous family with seven individuals with severe intellectual disability and microcephaly. Further symptoms were hearing loss, vision impairment, gastrointestinal disturbances,...

    Authors: Rebecca Buchert, Addie I. Nesbitt, Hasan Tawamie, Ian D. Krantz, Livija Medne, Ingo Helbig, Dena R. Matalon, André Reis, Avni Santani, Heinrich Sticht and Rami Abou Jamra
    Citation: Orphanet Journal of Rare Diseases 2016 11:130
  15. Tuberous sclerosis (TSC) is a monogenic disease resulting from defects of the TSC1 or TSC2 genes, which encode the proteins forming hamartin-tuberin tumor suppressor complex, the mammalian target of rapamycin com...

    Authors: Joanna Trelinska, Wojciech Fendler, Iwona Dachowska, Katarzyna Kotulska, Sergiusz Jozwiak, Karolina Antosik, Piotr Gnys, Maciej Borowiec and Wojciech Mlynarski
    Citation: Orphanet Journal of Rare Diseases 2016 11:129
  16. 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
  17. The efficacy and safety of intra-venous (i.v.) sodium benzoate for treating acute episodes of hyperammonemia in urea cycle enzyme disorders (UCD) is well known. However, published data do not provide a clear p...

    Authors: Marie-Caroline Husson, Manuel Schiff, Alain Fouilhoux, Aline Cano, Dries Dobbelaere, Anais Brassier, Karine Mention, Jean-Baptiste Arnoux, François Feillet, Brigitte Chabrol, Nathalie Guffon, Caroline Elie and Pascale de Lonlay
    Citation: Orphanet Journal of Rare Diseases 2016 11:127
  18. Inborn errors of metabolism (IEMs) are individually rare; however, they are collectively common. More than 600 human diseases caused by inborn errors of metabolism are now recognized, and this number is consta...

    Authors: Majid Alfadhel, Mohammed Benmeakel, Mohammad Arif Hossain, Fuad Al Mutairi, Ali Al Othaim, Ahmed A. Alfares, Mohammed Al Balwi, Abdullah Alzaben and Wafaa Eyaid
    Citation: Orphanet Journal of Rare Diseases 2016 11:126
  19. Although the majority of small in-frame insertions/deletions (indels) has no or little effect on protein function, a subset of these changes has been causally associated with genetic disorders. Notably, the mo...

    Authors: Panagiotis I. Sergouniotis, Stephanie J. Barton, Sarah Waller, Rahat Perveen, Jamie M. Ellingford, Christopher Campbell, Georgina Hall, Rachel L. Gillespie, Sanjeev S. Bhaskar, Simon C. Ramsden, Graeme C. Black and Simon C. Lovell
    Citation: Orphanet Journal of Rare Diseases 2016 11:125
  20. Hypermobile Ehlers-Danlos syndrome (hEDS), is probably the most common disease among heritable connective tissue disorders. It affects women more than men and causes symptoms in multiple organs. It is associat...

    Authors: Justine Hugon-Rodin, Géraldine Lebègue, Stéphanie Becourt, Claude Hamonet and Anne Gompel
    Citation: Orphanet Journal of Rare Diseases 2016 11:124
  21. The mainstay of treating patients with phenylketonuria (PKU) is based on a Phe-restricted diet, restrictive in natural protein combined with Phe-free L-amino acid supplements and low protein foods. This PKU di...

    Authors: María L. Couce, Isidro Vitoria, Luís Aldámiz-Echevarría, Ana Fernández-Marmiesse, Iria Roca, Marta Llarena, Paula Sánchez-Pintos, Rosaura Leis and Alvaro Hermida
    Citation: Orphanet Journal of Rare Diseases 2016 11:123
  22. Niemann-Pick type C (NP-C) is a rare autosomal recessive progressive neurodegenerative disorder caused by mutations in the NP-C 1 or 2 gene. Besides visceral symptoms, presentation in adolescent and adult onse...

    Authors: L. H. Koens, A. Kuiper, M. A. Coenen, J. W. J. Elting, J. J. de Vries, M. Engelen, J. H. T. M. Koelman, F. J. van Spronsen, J. M. Spikman, T. J. de Koning and M. A. J. Tijssen
    Citation: Orphanet Journal of Rare Diseases 2016 11:121
  23. Aberrant activation of the Hedgehog (Hh) pathway is a key driver in the pathogenesis of basal cell carcinomas (BCCs), including patients with BCC nevus syndrome (BCCNS). It is unclear whether BCCs arising in p...

    Authors: Anne Lynn S. Chang, Sarah T. Arron, Michael R. Migden, James A. Solomon, Simon Yoo, Bann-Mo Day, Edward F. McKenna and Aleksandar Sekulic
    Citation: Orphanet Journal of Rare Diseases 2016 11:120
  24. Whole lung lavage (WLL) is the current standard of care treatment for patients affected by pulmonary alveolar proteinosis (PAP). However, WLL is not standardized and international consensus documents are lacking.

    Authors: Ilaria Campo, Maurizio Luisetti, Matthias Griese, Bruce C. Trapnell, Francesco Bonella, Jan Grutters, Koh Nakata, Coline H. M. Van Moorsel, Ulrich Costabel, Vincent Cottin, Toshio Ichiwata, Yoshikazu Inoue, Antonio Braschi, Giacomo Bonizzoni, Giorgio A. Iotti, Carmine Tinelli…
    Citation: Orphanet Journal of Rare Diseases 2016 11:115
  25. The mucopolysaccharidoses (MPS) comprise a heterogeneous family of rare, genetic lysosomal storage disorders that result in severe morbidity and reduced life expectancy. Emerging treatments for several of thes...

    Authors: Christian J. Hendriksz, Kenneth I. Berger, Christina Lampe, Susanne G. Kircher, Paul J. Orchard, Rebecca Southall, Sarah Long, Stephen Sande and Jeffrey I. Gold
    Citation: Orphanet Journal of Rare Diseases 2016 11:119
  26. Inherited peripheral neuropathies (IPN) are the most common inherited neurological condition. It represents a highly heterogeneous group, both clinically and genetically.

    Authors: Petra Laššuthová, Dana Šafka Brožková, Marcela Krůtová, Jana Neupauerová, Jana Haberlová, Radim Mazanec, Pavel Dřímal and Pavel Seeman
    Citation: Orphanet Journal of Rare Diseases 2016 11:118
  27. Inherited epidermolysis bullosa (EB) comprises a highly heterogeneous group of rare diseases characterized by exacerbated skin and/or mucosal fragility and blister formation after minor mechanical trauma. Leve...

    Authors: H. Montaudié, C. Chiaverini, E. Sbidian, A. Charlesworth and J-P. Lacour
    Citation: Orphanet Journal of Rare Diseases 2016 11:117
  28. Urea cycle disorders (UCDs) are rare inherited metabolic defects of ammonia detoxification. In about half of patients presenting with a UCD, the first symptoms appear within a few days after birth. These neona...

    Authors: Caroline Unsinn, Anibh Das, Vassili Valayannopoulos, Eva Thimm, Skadi Beblo, Alberto Burlina, Vassiliki Konstantopoulou, Sebene Mayorandan, Pascale de Lonlay, Jörg Rennecke, Jens Derbinski, Georg F. Hoffmann and Johannes Häberle
    Citation: Orphanet Journal of Rare Diseases 2016 11:116
  29. Chylomicron retention disease (CMRD), a rare genetic hypocholesterolemia, results in neuro-ophtalmologic damages, which can be prevented by high doses of vitamin E during infancy. In these patients, plasma vit...

    Authors: Charlotte Cuerq, Lioara Restier, Jocelyne Drai, Emilie Blond, Adeline Roux, Sybil Charriere, Marie-Caroline Michalski, Mathilde Di Filippo, Emile Levy, Alain Lachaux and Noël Peretti
    Citation: Orphanet Journal of Rare Diseases 2016 11:114
  30. McCune–Albright syndrome (MAS) is a rare disease defined by the triad of fibrous dysplasia (FD), café au lait spots, and peripheral precocious puberty (PP). Because of the rarity of this disease, only a few in...

    Authors: Eun-Kyung Cho, Jinsup Kim, Aram Yang, Chang-Seok Ki, Ji-Eun Lee, Sung Yoon Cho and Dong-Kyu Jin
    Citation: Orphanet Journal of Rare Diseases 2016 11:113
  31. Phenylketonuria is an autosomal recessive inborn error of metabolism which can be prevented by early and continuous treatment. Therefore newborn screening for phenylketonuria has been introduced in many countr...

    Authors: Mirjana Kocova and Violeta Anastasovska
    Citation: Orphanet Journal of Rare Diseases 2016 11:112

    The original article was published in Orphanet Journal of Rare Diseases 2015 10:68

  32. The vascular type represents a very rare, yet the clinically most fatal entity of Ehlers-Danlos syndrome (EDS). Patients are often admitted due to arterial bleedings and the friable tissue and the altered coag...

    Authors: Albert Busch, Sabine Hoffjan, Frauke Bergmann, Birgit Hartung, Helena Jung, Daniela Hanel, Andeas Tzschach, Janos Kadar, Yskert von Kodolitsch, Christoph-Thomas Germer, Heiner Trobisch, Erwin Strasser and René Wildenauer
    Citation: Orphanet Journal of Rare Diseases 2016 11:111
  33. 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
  34. Erdheim-Chester disease (ECD) is a rare non-Langerhans histiocytosis characterized by systemic inflammation and granulomatous infiltration of multiple organs including the central nervous system (CNS), bones, ...

    Authors: Eli L. Diamond, Vaios Hatzoglou, Sneha Patel, Omar Abdel-Wahab, Raajit Rampal, David M. Hyman, Andrei I. Holodny and Ashish Raj
    Citation: Orphanet Journal of Rare Diseases 2016 11:109
  35. Primary congenital glaucoma (PCG) and early onset glaucomas are one of the major causes of children and young adult blindness worldwide. Both autosomal recessive and dominant inheritance have been described wi...

    Authors: Lucia Mauri, Steffen Uebe, Heinrich Sticht, Urs Vossmerbaeumer, Nicole Weisschuh, Emanuela Manfredini, Edoardo Maselli, Mariacristina Patrosso, Robert N. Weinreb, Silvana Penco, André Reis and Francesca Pasutto
    Citation: Orphanet Journal of Rare Diseases 2016 11:108
  36. Rare diseases, also referred to as orphan diseases, are characterised by their low prevalence with majority of them are chronically debilitating and life threatening. Given the low prevalence and the widely di...

    Authors: Asrul Akmal Shafie, Nathorn Chaiyakunapruk, Azuwana Supian, Jeremy Lim, Matt Zafra and Mohamed Azmi Ahmad Hassali
    Citation: Orphanet Journal of Rare Diseases 2016 11:107
  37. Huntington’s disease (HD) is a devastating brain disorder with no effective treatment or cure available. The scarcity of brain tissue makes it hard to study changes in the brain and impossible to perform longi...

    Authors: Eleni Mina, Willeke van Roon-Mom, Kristina Hettne, Erik van Zwet, Jelle Goeman, Christian Neri, Peter A.C. ’t Hoen, Barend Mons and Marco Roos
    Citation: Orphanet Journal of Rare Diseases 2016 11:97
  38. Rapid-onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation (ROHHAD) is a rare disease with a high mortality rate. Although nocturnal hypoventilation (NH) is central to ROHHA...

    Authors: Diana Reppucci, Jill Hamilton, E Ann Yeh, Sherri Katz, Suhail Al-Saleh and Indra Narang
    Citation: Orphanet Journal of Rare Diseases 2016 11:106
  39. Mitochondrial myopathy severely affects skeletal muscle structure and function resulting in defective oxidative phosphorylation. However, the major pathomechanisms and therewith effective treatment approaches ...

    Authors: Saskia Maria Gehrig, Violeta Mihaylova, Sebastian Frese, Sandro Manuel Mueller, Maria Ligon-Auer, Christina M. Spengler, Jens A. Petersen, Carsten Lundby and Hans H. Jung
    Citation: Orphanet Journal of Rare Diseases 2016 11:105
  40. The nosological assignment of congenital ocular motor apraxia type Cogan (COMA) is still controversial. While regarded as a distinct entity by some authorities including the Online Mendelian Inheritance in Man...

    Authors: Sarah Wente, Simone Schröder, Johannes Buckard, Hans-Martin Büttel, Florian von Deimling, Wilfried Diener, Martin Häussler, Susanne Hübschle, Silvia Kinder, Gerhard Kurlemann, Christoph Kretzschmar, Michael Lingen, Wiebke Maroske, Dirk Mundt, Iciar Sánchez-Albisua, Jürgen Seeger…
    Citation: Orphanet Journal of Rare Diseases 2016 11:104
  41. Type 1 autoimmune pancreatitis (AIP) is clinically characterized by a response to steroid therapy. Despite having a favorable prognosis, AIP has a high relapse rate and factors predicting relapse in AIP patien...

    Authors: Yoshinori Ohno, Teru Kumagi, Tomoyuki Yokota, Nobuaki Azemoto, Yoshinori Tanaka, Kazuhiro Tange, Nobu Inada, Hideki Miyata, Yoshiki Imamura, Mitsuhito Koizumi, Taira Kuroda and Yoichi Hiasa
    Citation: Orphanet Journal of Rare Diseases 2016 11:103
  42. Red cell distribution width (RDW), a classical parameter used in the differential diagnosis of anemia, has recently been recognized as a marker of chronic inflammation and high levels of oxidative stress (OS)....

    Authors: Rosa Sousa, Cristina Gonçalves, Isabel Couto Guerra, Emília Costa, Ana Fernandes, Maria do Bom Sucesso, Joana Azevedo, Alfredo Rodriguez, Rocio Rius, Carlos Seabra, Fátima Ferreira, Letícia Ribeiro, Anabela Ferrão, Sérgio Castedo, Esmeralda Cleto, Jorge Coutinho…
    Citation: Orphanet Journal of Rare Diseases 2016 11:102
  43. RAS/MAPK pathway germline mutations were described in Rasopathies, a class of rare genetic syndromes combining facial abnormalities, heart defects, short stature, skin and genital abnormalities, and mental ret...

    Authors: Brigitte Gilbert-Dussardier, Audrey Briand-Suleau, Ingrid Laurendeau, Frédéric Bilan, Hélène Cavé, Alain Verloes, Michel Vidaud, Dominique Vidaud and Eric Pasmant
    Citation: Orphanet Journal of Rare Diseases 2016 11:101
  44. Pontocerebellar hypoplasia type 2 (PCH2) is caused by a defect in the TSEN54-gene and leads to severe and early disruption of brain development, especially of cerebellum and pons. The aim of this work was to quan...

    Authors: Kaspar Ekert, Samuel Groeschel, Iciar Sánchez-Albisua, Saskia Frölich, Andrea Dieckmann, Corinna Engel and Ingeborg Krägeloh-Mann
    Citation: Orphanet Journal of Rare Diseases 2016 11:100
  45. Pompe disease is a progressive metabolic myopathy. Disease progression is characterized, among other features, by progressive dysfunction of the voice apparatus. The aim of this study was to employ electroglot...

    Authors: Krzysztof Szklanny, Ryszard Gubrynowicz, Katarzyna Iwanicka-Pronicka and Anna Tylki-Szymańska
    Citation: Orphanet Journal of Rare Diseases 2016 11:99
  46. Hereditary spastic paraparesis (HSP) is a rare neurodegenerative condition characterized by slowly progressive spastic weakness of the lower limbs and urinary sphincter dysfunction. Complex HSP involves additi...

    Authors: Krister W. Fjermestad, Øivind J. Kanavin, Eva E. Næss, Lise B. Hoxmark and Grete Hummelvoll
    Citation: Orphanet Journal of Rare Diseases 2016 11:98