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  1. Amyotrophic lateral sclerosis (ALS) is an adult onset neurodegenerative disease characterized by the loss of motoneurons (MNs) in the spinal cord, brainstem and motor cortex, causing progressive paralysis and ...

    Authors: Renzo Mancuso, Jaume del Valle, Marta Morell, Mercé Pallás, Rosario Osta and Xavier Navarro
    Citation: Orphanet Journal of Rare Diseases 2014 9:78
    Content type: Research Published on:

  2. Autoimmune pancreatitis (AIP) has been recognized as a distinct type of pancreatitis that is possibly caused by autoimmune mechanisms. AIP is characterized by high serum IgG4 and IgG4-positive plasma cell infi...

    Authors: Masahiro Maruyama, Takayuki Watanabe, Keita Kanai, Takaya Oguchi, Jumpei Asano, Tetsuya Ito, Yayoi Ozaki, Takashi Muraki, Hideaki Hamano, Norikazu Arakura and Shigeyuki Kawa
    Citation: Orphanet Journal of Rare Diseases 2014 9:77
    Content type: Review Published on:

  3. Inherited epidermolysis bullosa (EB) comprises a highly heterogeneous group of rare diseases characterized by fragility and blistering of skin and mucous membranes. Clinical features combined with immunofluore...

    Authors: May El Hachem, Giovanna Zambruno, Eva Bourdon-Lanoy, Annalisa Ciasulli, Christiane Buisson, Smail Hadj-Rabia, Andrea Diociaiuti, Carolina F Gouveia, Angela Hernández-Martín, Raul de Lucas Laguna, Mateja Dolenc-Voljč, Gianluca Tadini, Guglielmo Salvatori, Cristiana De Ranieri, Stephanie Leclerc-Mercier and Christine Bodemer
    Citation: Orphanet Journal of Rare Diseases 2014 9:76
    Content type: Review Published on:

  4. Infantile Pompe disease is a rare metabolic disease. Patients generally do not survive the first year of life. Enzyme replacement therapy (ERT) has proven to have substantial effects on survival in infantile P...

    Authors: Tim A Kanters, Iris Hoogenboom-Plug, Maureen PMH Rutten-Van Mölken, W Ken Redekop, Ans T van der Ploeg and Leona Hakkaart
    Citation: Orphanet Journal of Rare Diseases 2014 9:75
    Content type: Research Published on:

  5. Oral-facial-digital type 1 syndrome (OFD1; OMIM 311200) belongs to the expanding group of disorders ascribed to ciliary dysfunction. With the aim of contributing to the understanding of the role of primary cil...

    Authors: Ennio Del Giudice, Marina Macca, Floriana Imperati, Alessandra D’Amico, Philippe Parent, Laurent Pasquier, Valerie Layet, Stanislas Lyonnet, Veronique Stamboul-Darmency, Christel Thauvin-Robinet and Brunella Franco
    Citation: Orphanet Journal of Rare Diseases 2014 9:74
    Content type: Research Published on:

  6. Conventional therapy for patients with maple syrup urine disease (MSUD) entails restriction of protein intake to maintain acceptable levels of the branched chain amino acid, leucine (LEU), monitored in blood. ...

    Authors: Kara R Vogel, Erland Arning, Brandi L Wasek, Sterling McPherson, Teodoro Bottiglieri and K Michael Gibson
    Citation: Orphanet Journal of Rare Diseases 2014 9:73
    Content type: Research Published on:

  7. Joubert syndrome is a clinically and genetically heterogeneous ciliopathy characterized by a typical cerebellar and brainstem malformation (the “molar tooth sign”), and variable multiorgan involvement. To date...

    Authors: Marta Romani, Alessia Micalizzi, Ichraf Kraoua, Maria Teresa Dotti, Mara Cavallin, László Sztriha, Rosario Ruta, Francesca Mancini, Tommaso Mazza, Stefano Castellana, Benrhouma Hanene, Maria Alessandra Carluccio, Francesca Darra, Adrienn Máté, Alíz Zimmermann, Neziha Gouider-Khouja…
    Citation: Orphanet Journal of Rare Diseases 2014 9:72
    Content type: Letter to the Editor Published on:

  8. Pseudomyxoma peritonei (PMP, ORPHA26790) is a clinical syndrome characterized by progressive dissemination of mucinous tumors and mucinous ascites in the abdomen and pelvis. PMP is a rare disease with an estim...

    Authors: Afshin Amini, Samar Masoumi-Moghaddam, Anahid Ehteda and David Lawson Morris
    Citation: Orphanet Journal of Rare Diseases 2014 9:71
    Content type: Review Published on:

  9. Pontocerebellar hypoplasia Type 2 (PCH2) is a rare autosomal recessive condition, defined on MRI by a small cerebellum and ventral pons. Clinical features are severe developmental delay, microcephaly and dyski...

    Authors: Iciar Sánchez-Albisua, Saskia Frölich, Peter G Barth, Maja Steinlin and Ingeborg Krägeloh-Mann
    Citation: Orphanet Journal of Rare Diseases 2014 9:70
    Content type: Research Published on:

  11. Nasu-Hakola disease (NHD) is a rare autosomal recessive disorder characterized by sclerosing leukoencephalopathy and multifocal bone cysts, caused by a loss-of-function mutation of either DAP12 or TREM2. TREM2...

    Authors: Jun-ichi Satoh, Nobutaka Motohashi, Yoshihiro Kino, Tsuyoshi Ishida, Saburo Yagishita, Kenji Jinnai, Nobutaka Arai, Kiyotaka Nakamagoe, Akira Tamaoka, Yuko Saito and Kunimasa Arima
    Citation: Orphanet Journal of Rare Diseases 2014 9:68
    Content type: Research Published on:

  12. The pathophysiologic mechanisms classically involved in sickle-cell nephropathy include endothelial dysfunction and vascular occlusion. Arguments demonstrating that ischemia-reperfusion injury-related kidney d...

    Authors: Vincent Audard, Stéphane Moutereau, Gaetana Vandemelebrouck, Anoosha Habibi, Mehdi Khellaf, Philippe Grimbert, Yves Levy, Sylvain Loric, Bertrand Renaud, Philippe Lang, Bertrand Godeau, Frédéric Galactéros and Pablo Bartolucci
    Citation: Orphanet Journal of Rare Diseases 2014 9:67
    Content type: Research Published on:

  13. Pseudoxanthoma elasticum (PXE) is characterized by skin (papular lesions), ocular (subretinal neovascularisation) and cardiovascular manifestations (peripheral artery disease), due to mineralization and fragme...

    Authors: Mohammad J Hosen, Paul J Coucke, Olivier Le Saux, Anne De Paepe and Olivier M Vanakker
    Citation: Orphanet Journal of Rare Diseases 2014 9:66
    Content type: Research Published on:

  14. It is important for psychiatrists to be aware of certain inborn errors of metabolism (IEMs) as these rare disorders can present as psychosis, and because definitive treatments may be available for treating the...

    Authors: Olivier Bonnot, Hans Hermann Klünemann, Frederic Sedel, Sylvie Tordjman, David Cohen and Mark Walterfang
    Citation: Orphanet Journal of Rare Diseases 2014 9:65
    Content type: Review Published on:

  15. Niemann-Pick disease type C (NPC) is caused by defects in cholesterol efflux from lysosomes due to mutations of genes coding for NPC1 and NPC2 proteins. As a result, massive accumulation of unesterified choles...

    Authors: Katarzyna Kwiatkowska, Ewelina Marszałek–Sadowska, Gabriela Traczyk, Piotr Koprowski, Małgorzata Musielak, Agnieszka Ługowska, Magdalena Kulma, Anna Grzelczyk and Andrzej Sobota
    Citation: Orphanet Journal of Rare Diseases 2014 9:64
    Content type: Research Published on:

  16. The Li-Fraumeni syndrome (LFS) is an inherited rare cancer predisposition syndrome characterized by a variety of early-onset tumors. Although germline mutations in the tumor suppressor gene TP53 account for over ...

    Authors: Amanda G Silva, Ana CV Krepischi, Peter L Pearson, Pierre Hainaut, Carla Rosenberg and Maria Isabel Achatz
    Citation: Orphanet Journal of Rare Diseases 2014 9:63
    Content type: Research Published on:

  17. The pricing mechanism of orphan drugs appears arbitrary and has been referred to as a “black box”. Therefore, the aim of this study is to investigate how drug- and disease-specific variables relate to orphan d...

    Authors: Eline Picavet, Thomas Morel, David Cassiman and Steven Simoens
    Citation: Orphanet Journal of Rare Diseases 2014 9:62
    Content type: Research Published on:

  18. Transthyretin amyloidosis is a systemic disorder caused by amyloid deposits formed by misfolded transthyretin monomers. Two main forms exist: hereditary and wild-type transthyretin amyloidosis, the former asso...

    Authors: Jonas Wixner, Rajiv Mundayat, Onur N Karayal, Intissar Anan, Pontus Karling and Ole B Suhr
    Citation: Orphanet Journal of Rare Diseases 2014 9:61
    Content type: Research Published on:

  19. To characterize cathepsin K (CTSK) mutations in a group of patients with pycnodysostosis, who presented with either short stature or atypical fractures to pediatric endocrinology or dysmorphic features to pediatr...

    Authors: Ahmet Arman, Abdullah Bereket, Ajda Coker, Pelin Özlem Şimşek Kiper, Tülay Güran, Behzat Özkan, Zeynep Atay, Teoman Akçay, Belma Haliloglu, Koray Boduroglu, Yasemin Alanay and Serap Turan
    Citation: Orphanet Journal of Rare Diseases 2014 9:60
    Content type: Research Published on:

  20. With over 50 different disorders and a combined incidence of up to 1/3000 births, lysosomal storage diseases (LSDs) constitute a major public health problem and place an enormous burden on affected individuals...

    Authors: Ana Fernández-Marmiesse, Marcos Morey, Merce Pineda, Jesús Eiris, Maria Luz Couce, Manuel Castro-Gago, Jose Maria Fraga, Lucia Lacerda, Sofia Gouveia, Maria Socorro Pérez-Poyato, Judith Armstrong, Daisy Castiñeiras and Jose A Cocho
    Citation: Orphanet Journal of Rare Diseases 2014 9:59
    Content type: Research Published on:

  21. Marinesco-Sjögren syndrome (MSS) is an autosomal recessive multisystem disorder characterized by the tetralogy of cerebellar ataxia, congenital cataracts, intellectual disability, and progressive muscle weakne...

    Authors: Masahide Goto, Mari Okada, Hirofumi Komaki, Kenji Sugai, Masayuki Sasaki, Satoru Noguchi, Ikuya Nonaka, Ichizo Nishino and Yukiko K Hayashi
    Citation: Orphanet Journal of Rare Diseases 2014 9:58
    Content type: Research Published on:

  22. Mutations in the gene STUB1, encoding the protein CHIP (C-terminus of HSC70-interacting protein), have recently been suggested as a cause of recessive ataxia based on the findings in few Chinese families. Here we...

    Authors: Matthis Synofzik, Rebecca Schüle, Martin Schulze, Janina Gburek-Augustat, Roland Schweizer, Anja Schirmacher, Ingeborg Krägeloh-Mann, Michael Gonzalez, Peter Young, Stephan Züchner, Ludger Schöls and Peter Bauer
    Citation: Orphanet Journal of Rare Diseases 2014 9:57
    Content type: Research Published on:

  23. Immunodeficiency Centromeric Instability and Facial anomalies (ICF) is a rare autosomal recessive disease characterized by reduction in serum immunoglobulins with severe recurrent infections, facial dysmorphis...

    Authors: Guillaume Velasco, Emma L Walton, Delphine Sterlin, Sabrine Hédouin, Hirohisa Nitta, Yuya Ito, Fanny Fouyssac, André Mégarbané, Hiroyuki Sasaki, Capucine Picard and Claire Francastel
    Citation: Orphanet Journal of Rare Diseases 2014 9:56
    Content type: Research Published on:

  24. Almost 90% of all cases of congenital, non-syndromic, severe to profound inherited deafness display an autosomal recessive mode of transmission (DFNB forms). To date, 47 causal DFNB genes have been identified,...

    Authors: Asma Behlouli, Crystel Bonnet, Samia Abdi, Aïcha Bouaita, Andrea Lelli, Jean-Pierre Hardelin, Cataldo Schietroma, Yahia Rous, Malek Louha, Ahmed Cheknane, Hayet Lebdi, Kamel Boudjelida, Mohamed Makrelouf, Akila Zenati and Christine Petit
    Citation: Orphanet Journal of Rare Diseases 2014 9:55
    Content type: Research Published on:

  25. Acute Intermittent Porphyria (AIP) is a rare disease that results from a deficiency of hydroxymethylbilane synthase, the third enzyme of the heme biosynthetic pathway. AIP carriers are at risk of presenting ac...

    Authors: Oscar J Pozo, Josep Marcos, Andreu Fabregat, Rosa Ventura, Gregori Casals, Paula Aguilera, Jordi Segura and Jordi To-Figueras
    Citation: Orphanet Journal of Rare Diseases 2014 9:54
    Content type: Research Published on:

  26. Segmental Xp22.2 monosomy or a heterozygous HCCS mutation is associated with the microphthalmia with linear skin defects (MLS) or MIDAS (microphthalmia, dermal aplasia, and sclerocornea) syndrome, an X-linked dis...

    Authors: Vanessa A van Rahden, Isabella Rau, Sigrid Fuchs, Friederike K Kosyna, Hiram Larangeira de Almeida Jr, Helen Fryssira, Bertrand Isidor, Anna Jauch, Madeleine Joubert, Augusta M A Lachmeijer, Christiane Zweier, Ute Moog and Kerstin Kutsche
    Citation: Orphanet Journal of Rare Diseases 2014 9:53
    Content type: Research Published on:

  27. Leigh syndrome is a progressive neurodegenerative disorder, associated with primary or secondary dysfunction of the mitochondrial oxidative phosphorylation. Despite the fact that Leigh syndrome is the most com...

    Authors: Kalliopi Sofou, Irenaeus F M De Coo, Pirjo Isohanni, Elsebet Ostergaard, Karin Naess, Linda De Meirleir, Charalampos Tzoulis, Johanna Uusimaa, Isabell B De Angst, Tuula Lönnqvist, Helena Pihko, Katariina Mankinen, Laurence A Bindoff, Már Tulinius and Niklas Darin
    Citation: Orphanet Journal of Rare Diseases 2014 9:52
    Content type: Research Published on:

  29. Sweet dysgeusia, a rare taste disorder, may be encountered in severe anti-acetylcholine receptor antibody (AChRAb)-myasthenia gravis (MG). A 42 year-old man reported progressive loss of sweet taste evolving fo...

    Authors: Joelle N Chabwine, Muriel V Tschirren, Anastasia Zekeridou, Basile N Landis and Thierry Kuntzer
    Citation: Orphanet Journal of Rare Diseases 2014 9:50
    Content type: Letter to the Editor Published on:

  30. X-linked intellectual disability (XLID) is a group of genetically heterogeneous disorders characterized by substantial impairment in cognitive abilities, social and behavioral adaptive skills. Next generation ...

    Authors: Anju K Philips, Auli Sirén, Kristiina Avela, Mirja Somer, Maarit Peippo, Minna Ahvenainen, Fatma Doagu, Maria Arvio, Helena Kääriäinen, Hilde Van Esch, Guy Froyen, Stefan A Haas, Hao Hu, Vera M Kalscheuer and Irma Järvelä
    Citation: Orphanet Journal of Rare Diseases 2014 9:49
    Content type: Research Published on:

  31. An orphan medicinal product, eculizumab is approved in Japan and globally for treating paroxysmal nocturnal hemoglobinuria and atypical hemolytic uremic syndrome. Eculizumab therapy can cause late complement p...

    Authors: Tetsuya Tanimoto, Eiji Kusumi, Kazutaka Hosoda, Kaduki Kouno, Tamae Hamaki and Masahiro Kami
    Citation: Orphanet Journal of Rare Diseases 2014 9:48
    Content type: Letter to the Editor Published on:

  32. Glycogen storage disease type I (GSDI), an inborn error of carbohydrate metabolism, is caused by defects in the glucose-6-transporter/glucose-6-phosphatase complex, which is essential in glucose homeostasis. T...

    Authors: Susanna JB Boers, Gepke Visser, Peter GPA Smit and Sabine A Fuchs
    Citation: Orphanet Journal of Rare Diseases 2014 9:47
    Content type: Review Published on:

  33. Congenital Cataract Facial Dysmorphism and demyelinating Neuropathy (CCFDN, OMIM 604468) is an autosomal recessive multi-system disorder which was first described in Bulgarian Gypsies in 1999. It is caused by ...

    Authors: Petra Lassuthova, Dana Šišková, Jana Haberlová, Iva Sakmaryová, Aleš Filouš and Pavel Seeman
    Citation: Orphanet Journal of Rare Diseases 2014 9:46
    Content type: Research Published on:

  34. Gaucher disease, an autosomal recessive condition due to deficiency of lysosomal glucocerebrosidase, is a multisystemic disease, with variable age of onset, severity and progression. It is classified into subt...

    Authors: Marissa Orenstein, Deborah Barbouth, Olaf A Bodamer and Neal J Weinreb
    Citation: Orphanet Journal of Rare Diseases 2014 9:45
    Content type: Research Published on:

  35. Hereditary angioedema (HAE) resulting from C1-inhibitor deficiency is characterized by attacks of subcutaneous and submucosal edema. Many factors have been presumed to induce edema. Our study analyzed these fa...

    Authors: Zsuzsanna Zotter, Dorottya Csuka, Erika Szabó, Ibolya Czaller, Zsuzsanna Nébenführer, György Temesszentandrási, George Fust, Lilian Varga and Henriette Farkas
    Citation: Orphanet Journal of Rare Diseases 2014 9:44
    Content type: Research Published on:

  36. Mutations in genes encoding components of the Brahma-associated factor (BAF) chromatin remodeling complex have recently been shown to contribute to multiple syndromes characterised by developmental delay and i...

    Authors: Joe C H Sim, Susan M White, Elizabeth Fitzpatrick, Gabrielle R Wilson, Greta Gillies, Kate Pope, Hayley S Mountford, Pernille M Torring, Shane McKee, Anneke T Vulto-van Silfhout, Shalini N Jhangiani, Donna M Muzny, Richard J Leventer, Martin B Delatycki, David J Amor and Paul J Lockhart
    Citation: Orphanet Journal of Rare Diseases 2014 9:43
    Content type: Research Published on:

  37. Behçet’s disease (BD) significantly increases morbidity and mortality. BD mainly affects young adults with a peculiar geographical distribution. It has been suggested that BD varies in its phenotypic expressio...

    Authors: Lea Savey, Mathieu Resche-Rigon, Bertrand Wechsler, Cloé Comarmond, Jean Charles Piette, Patrice Cacoub and David Saadoun
    Citation: Orphanet Journal of Rare Diseases 2014 9:42
    Content type: Research Published on:

  38. Wilson’s disease (WD) evolves rapidly and is fatal if untreated. The treatment of WD patients with mild liver disease is not clearly defined. To address this issue, we evaluated long-term outcomes of three tre...

    Authors: Giusy Ranucci, Fabiola Di Dato, Maria Immacolata Spagnuolo, Pietro Vajro and Raffaele Iorio
    Citation: Orphanet Journal of Rare Diseases 2014 9:41
    Content type: Research Published on:

  40. Haemophilia is a rare hereditary haemorrhagic disease that requires regular intravenous injections of clotting factor (CF) concentrates. This study sought to estimate the health and economic burden of haemophi...

    Authors: Séverine Henrard, Brecht Devleesschauwer, Philippe Beutels, Michael Callens, Frank De Smet, Cedric Hermans and Niko Speybroeck
    Citation: Orphanet Journal of Rare Diseases 2014 9:39
    Content type: Research Published on:

  41. PMP22 related neuropathies comprise (1) PMP22 duplications leading to Charcot-Marie-Tooth disease type 1A (CMT1A), (2) PMP22 deletions, leading to Hereditary Neuropathy with liability to Pressure Palsies (HNPP), ...

    Authors: Barbara W van Paassen, Anneke J van der Kooi, Karin Y van Spaendonck-Zwarts, Camiel Verhamme, Frank Baas and Marianne de Visser
    Citation: Orphanet Journal of Rare Diseases 2014 9:38
    Content type: Review Published on:

  42. Although rare diseases have become a major public health issue, there is a paucity of population-based data on rare diseases. The aim of this epidemiological study was to provide descriptive figures referring ...

    Authors: Monica Mazzucato, Laura Visonà Dalla Pozza, Silvia Manea, Cinzia Minichiello and Paola Facchin
    Citation: Orphanet Journal of Rare Diseases 2014 9:37
    Content type: Research Published on:

  43. Rare chronic diseases of childhood are often complex and associated with multiple health issues. Such conditions present significant demands on health services, but the degree of these demands is seldom report...

    Authors: Neil J Hime, Dominic Fitzgerald, Paul Robinson, Hiran Selvadurai, Peter Van Asperen, Adam Jaffé and Yvonne Zurynski
    Citation: Orphanet Journal of Rare Diseases 2014 9:36
    Content type: Research Published on:

  44. Mutations in the EXT genes disrupt polymerisation of heparan sulphates (HS) and lead to the development of osteochondroma, an isolated/sporadic- or a multifocal/hereditary cartilaginous bone tumour. Zebrafish (Da...

    Authors: Malgorzata I Wiweger, Carlos E de Andrea, Karel W F Scheepstra, Zhe Zhao and Pancras C W Hogendoorn
    Citation: Orphanet Journal of Rare Diseases 2014 9:35
    Content type: Research Published on:

  45. Stüve-Wiedemann syndrome (STWS; OMIM #610559) is a rare bent-bone dysplasia that includes radiologic bone anomalies, respiratory distress, feeding difficulties, and hyperthermic episodes. STWS usually results ...

    Authors: Dawn Mikelonis, Cheryl L Jorcyk, Ken Tawara and Julia Thom Oxford
    Citation: Orphanet Journal of Rare Diseases 2014 9:34
    Content type: Review Published on:

  46. Inherited ichthyoses or Mendelian disorders of cornification (MeDOC) are clinically heterogeneous disorders with high unmet therapeutic needs, which are characterized by skin hyperkeratosis and scaling. Some M...

    Authors: Dimitra Kiritsi, Franziska Schauer, Ute Wölfle, Manthoula Valari, Leena Bruckner-Tuderman, Cristina Has and Rudolf Happle
    Citation: Orphanet Journal of Rare Diseases 2014 9:33
    Content type: Research Published on:

  47. Morquio A syndrome (or mucopolysaccharidosis IVa) is an ultra-rare multi-organ disease, resulting in significantly impaired functional capacity, mobility and quality of life (QoL).

    Authors: Christian J Hendriksz, Christine Lavery, Mahmut Coker, Sema Kalkan Ucar, Mohit Jain, Lisa Bell and Christina Lampe
    Citation: Orphanet Journal of Rare Diseases 2014 9:32
    Content type: Research Published on:

  49. The European Union Committee of Experts on Rare Diseases was entrusted with aiding the European Commission in a number of tasks, ranging from the monitoring of initiatives, to recommending improvements and act...

    Authors: Ségolène Aymé and Charlotte Rodwell
    Citation: Orphanet Journal of Rare Diseases 2014 9:30
    Content type: Editorial Published on:

  50. Transthyretin-associated Familial Amyloid Polyneuropathy (TTR-FAP) is an autosomal dominant disease caused by the deposition of abnormal transthyretin that results from a gene mutation. Although rare worldwide...

    Authors: Juan Buades Reinés, Tomás Ripoll Vera, Mercedes Uson Martín, Hernán Andréu Serra, Ma Margarita Company Campins, José Miguel Diéguez Millán, Cristina Gallego Lezaun and Manuel Raya Cruz
    Citation: Orphanet Journal of Rare Diseases 2014 9:29
    Content type: Research Published on:
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  • ISSN: 1750-1172 (electronic)

Orphanet Journal of Rare Diseases

ISSN: 1750-1172