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  1. Pulmonary arterial hypertension (PAH) is a chronic and progressive disease leading to right heart failure and ultimately death if untreated. The first classification of PH was proposed in 1973. In 2008, the fo...

    Authors: David Montani, Sven Günther, Peter Dorfmüller, Frédéric Perros, Barbara Girerd, Gilles Garcia, Xavier Jaïs, Laurent Savale, Elise Artaud-Macari, Laura C Price, Marc Humbert, Gérald Simonneau and Olivier Sitbon
    Citation: Orphanet Journal of Rare Diseases 2013 8:97
  2. SURF1 deficiency, a monogenic mitochondrial disorder, is the most frequent cause of cytochrome c oxidase (COX) deficient Leigh syndrome (LS). We report the first natural history study of SURF1 deficiency.

    Authors: Yehani Wedatilake, Ruth M Brown, Robert McFarland, Joy Yaplito-Lee, Andrew A M Morris, Mike Champion, Phillip E Jardine, Antonia Clarke, David R Thorburn, Robert W Taylor, John M Land, Katharine Forrest, Angus Dobbie, Louise Simmons, Erlend T Aasheim, David Ketteridge…
    Citation: Orphanet Journal of Rare Diseases 2013 8:96
  3. The vascular disorder Hereditary Hemorrhagic Telangiectasia (HHT) is in general an inherited disease caused by mutations in the TGF-β/BMP receptors endoglin or ALK1 or in rare cases by mutations of the TGF-β s...

    Authors: Andreas Lux, Ralf Müller, Mark Tulk, Carla Olivieri, Roberto Zarrabeita, Theresia Salonikios and Bernhard Wirnitzer
    Citation: Orphanet Journal of Rare Diseases 2013 8:94
  4. Epidermolysis bullosa acquisita (EBA) is a rare skin blistering disease with a prevalence of 0.2/ million people. EBA is characterized by autoantibodies against type VII collagen. Type VII collagen builds anch...

    Authors: Sarah Schönig, Andreas Recke, Misa Hirose, Ralf J Ludwig and Karsten Seeger
    Citation: Orphanet Journal of Rare Diseases 2013 8:93
  5. Mucopolysaccharidosis type II (MPS II) is an inherited X-linked disease associated with a deficiency in the enzyme iduronate 2-sulfatase due to iduronate 2-sulfatase gene (IDS) mutations. Recent studies in MPS II...

    Authors: Encarna Guillén-Navarro, María Rosario Domingo-Jiménez, Carlos Alcalde-Martín, Ramón Cancho-Candela, María Luz Couce, Enrique Galán-Gómez and Olga Alonso-Luengo
    Citation: Orphanet Journal of Rare Diseases 2013 8:92
  6. We report an Italian family in which the proband showed a severe phenotype characterized by the association of congenital fiber type disproportion (CFTD) with a left ventricular non-compaction cardiomyopathy (...

    Authors: Teresa Esposito, Simone Sampaolo, Giuseppe Limongelli, Antonio Varone, Daniela Formicola, Daria Diodato, Olimpia Farina, Filomena Napolitano, Giuseppe Pacileo, Fernando Gianfrancesco and Giuseppe Di Iorio
    Citation: Orphanet Journal of Rare Diseases 2013 8:91
  7. Pompe disease is an autosomal recessive metabolic neuromuscular disorder caused by a deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA). It has long been believed that the underlying pathology lea...

    Authors: Sean N Prater, Trusha T Patel, Anne F Buckley, Hanna Mandel, Eugene Vlodavski, Suhrad G Banugaria, Erin J Feeney, Nina Raben and Priya S Kishnani
    Citation: Orphanet Journal of Rare Diseases 2013 8:90
  8. The development of new therapeutics has led to progress in the early management of congenital diaphragmatic hernia (CDH) in pediatric intensive care units (PICU). Little is known about the impact on the qualit...

    Authors: Fabrice Michel, Karine Baumstarck, Agathe Gosselin, Pierre Le Coz, Thierry Merrot, Sophie Hassid, Kathia Chaumoître, Julie Berbis, Claude Martin and Pascal Auquier
    Citation: Orphanet Journal of Rare Diseases 2013 8:89
  9. Alpha-Mannosidosis is a rare lysosomal storage disorder, caused by the deficiency of the enzyme alpha-Mannosidase. Clinically it is characterized by hearing impairment, skeletal and neurological abnormalities ...

    Authors: Michael Beck, Klaus J Olsen, James E Wraith, Jiri Zeman, Jean-Claude Michalski, Paul Saftig, Jens Fogh and Dag Malm
    Citation: Orphanet Journal of Rare Diseases 2013 8:88
  10. Inherited intellectual disability (ID) conditions are a group of genetically heterogeneous disorders that lead to variable degrees of cognition deficits. It has been shown that inherited ID can be caused by mu...

    Authors: Nadia A Akawi, Fatma Al-Jasmi, Aisha M Al-Shamsi, Bassam R Ali and Lihadh Al-Gazali
    Citation: Orphanet Journal of Rare Diseases 2013 8:87
  11. Oral sub mucous fibrosis is a rare chronic, progressive, pre malignant collagendisorder of oral mucosa in people of Asian descent characterized by trismus,blanching and stiffness of mucosa, burning sensation i...

    Authors: Muhammad Faisal, Madiha Rana, Anjum Shaheen, Riaz Warraich, Horst Kokemueller, André Michael Eckardt, Nils-Claudius Gellrich and Majeed Rana
    Citation: Orphanet Journal of Rare Diseases 2013 8:86

    The original article was published in Orphanet Journal of Rare Diseases 2013 8:56

  12. Although over 60 non-syndromic deafness genes have been identified to date, the etiologic contribution of most deafness genes remained elusive. In this study, we addressed this issue by targeted next-generatio...

    Authors: Tao Yang, Xiaoming Wei, Yongchuan Chai, Lei Li and Hao Wu
    Citation: Orphanet Journal of Rare Diseases 2013 8:85
  13. Biotin-responsive basal ganglia disease (BBGD) is an autosomal recessive neurometabolic disorder. It is characterized by sub acute encephalopathy with confusion, seizure, dysarthria and dystonia following a hi...

    Authors: Majid Alfadhel, Makki Almuntashri, Raafat H Jadah, Fahad A Bashiri, Muhammad Talal Al Rifai, Hisham Al Shalaan, Mohammed Al Balwi, Ahmed Al Rumayan, Wafaa Eyaid and Waleed Al-Twaijri
    Citation: Orphanet Journal of Rare Diseases 2013 8:83
  14. Stiff Person Syndrome (SPS) is a rare autoimmune movement disorder characterized by the presence of autoantibodies specific to the smaller isoform of glutamate decarboxylase (GAD65). A pathological role of the...

    Authors: Christiane S Hampe, Laura Petrosini, Paola De Bartolo, Paola Caporali, Debora Cutuli, Daniela Laricchiuta, Francesca Foti, Jared R Radtke, Veronika Vidova, Jérôme Honnorat and Mario Manto
    Citation: Orphanet Journal of Rare Diseases 2013 8:82
  15. Behçet disease (BD) is associated with a prothrombotic state of unknown origin that may lead to life-threatening events. Calibrated Automated Thrombogram (CAT) and Rotational Thromboelastometry (ROTEM) are two...

    Authors: Ihosvany Fernández-Bello, Francisco J López-Longo, Elena G Arias-Salgado, Víctor Jiménez-Yuste and Nora V Butta
    Citation: Orphanet Journal of Rare Diseases 2013 8:81
  16. Early onset epileptic encephalopathies (EOEEs) are dramatic heterogeneous conditions in which aetiology, seizures and/or interictal EEG have a negative impact on neurological development. Several genes have be...

    Authors: Mathieu Milh, Nadia Boutry-Kryza, Julie Sutera-Sardo, Cyril Mignot, Stéphane Auvin, Caroline Lacoste, Nathalie Villeneuve, Agathe Roubertie, Bénédicte Heron, Maryline Carneiro, Anna Kaminska, Cécilia Altuzarra, Gaëlle Blanchard, Dorothée Ville, Marie Anne Barthez, Delphine Heron…
    Citation: Orphanet Journal of Rare Diseases 2013 8:80
  17. Olmsted syndrome is a rare congenital skin disorder presenting with periorifical hyperkeratotic lesions and mutilating palmoplantar keratoderma, which is often associated with infections of the keratotic area....

    Authors: Dina Danso-Abeam, Jianguo Zhang, James Dooley, Kim A Staats, Lien Van Eyck, Thomas Van Brussel, Shari Zaman, Esther Hauben, Marc Van de Velde, Marie-Anne Morren, Marleen Renard, Christel Van Geet, Heidi Schaballie, Diether Lambrechts, Jinsheng Tao, Dean Franckaert…
    Citation: Orphanet Journal of Rare Diseases 2013 8:79
  18. Whereas mutations affecting the helical domain of type I procollagen classically cause Osteogenesis Imperfecta (OI), helical mutations near the amino (N)-proteinase cleavage site have been suggested to result ...

    Authors: Fransiska Malfait, Sofie Symoens, Nathalie Goemans, Yolanda Gyftodimou, Eva Holmberg, Vanesa López-González, Geert Mortier, Sheela Nampoothiri, Michael Bjorn Petersen and Anne De Paepe
    Citation: Orphanet Journal of Rare Diseases 2013 8:78
  19. Hereditary Angioedema due to C1-Inhibitor deficiency (HAE types I and II) is a monogenic disease characterized by sudden, self-limited episodes of cutaneous and mucosal swelling due to local deregulation of va...

    Authors: Alberto López-Lera, Fátima Sánchez Cabo, Sofía Garrido, Ana Dopazo and Margarita López-Trascasa
    Citation: Orphanet Journal of Rare Diseases 2013 8:77
  20. The use of the Internet for searching and sharing health information and for health care interactions may have a great potential for families of children affected with rare diseases. We conducted an online sur...

    Authors: Alberto E Tozzi, Rita Mingarelli, Eleonora Agricola, Michaela Gonfiantini, Elisabetta Pandolfi, Emanuela Carloni, Francesco Gesualdo and Bruno Dallapiccola
    Citation: Orphanet Journal of Rare Diseases 2013 8:76
  21. The Dandy-Walker malformation (DWM) is one of the commonest congenital cerebellar defects, and can be associated with multiple congenital anomalies and chromosomal syndromes. The occurrence of overlapping 3q d...

    Authors: Alessandro Ferraris, Laura Bernardini, Vesna Sabolic Avramovska, Ginevra Zanni, Sara Loddo, Elena Sukarova-Angelovska, Valentina Parisi, Anna Capalbo, Stefano Tumini, Lorena Travaglini, Francesca Mancini, Filip Duma, Sabina Barresi, Antonio Novelli, Eugenio Mercuri, Luigi Tarani…
    Citation: Orphanet Journal of Rare Diseases 2013 8:75
  22. Infantile cholestatic diseases can be caused by mutations in a number of genes involved in different hepatocyte molecular pathways. Whilst some of the essential pathways have a well understood function, such a...

    Authors: Neil V Morgan, Jane L Hartley, Kenneth DR Setchell, Michael A Simpson, Rachel Brown, Louise Tee, Sian Kirkham, Shanaz Pasha, Richard C Trembath, Eamonn R Maher, Paul Gissen and Deirdre A Kelly
    Citation: Orphanet Journal of Rare Diseases 2013 8:74
  23. Langerhans Cell Histiocytosis (LCH) is an orphan disease of clonal dendritic cells which may affect any organ of the body. Most of the knowledge about the diagnosis and therapy is based on pedriatic studies. A...

    Authors: Michael Girschikofsky, Maurizio Arico, Diego Castillo, Anthony Chu, Claus Doberauer, Joachim Fichter, Julien Haroche, Gregory A Kaltsas, Polyzois Makras, Angelo V Marzano, Mathilde de Menthon, Oliver Micke, Emanuela Passoni, Heinrich M Seegenschmiedt, Abdellatif Tazi and Kenneth L McClain
    Citation: Orphanet Journal of Rare Diseases 2013 8:72
  24. Patients with mucopolysaccharidoses (MPS) are associated with poor bone growth and mineralization, however, information regarding the assessment of bone mineral density (BMD) in relation to age and treatment i...

    Authors: Hsiang-Yu Lin, Shou-Chuan Shih, Chih-Kuang Chuang, Ming-Ren Chen, Dau-Ming Niu and Shuan-Pei Lin
    Citation: Orphanet Journal of Rare Diseases 2013 8:71
  25. This study describes the natural history of Barth syndrome (BTHS).

    Authors: Charlotte Rigaud, Anne-Sophie Lebre, Renaud Touraine, Blandine Beaupain, Chris Ottolenghi, Allel Chabli, Helene Ansquer, Hulya Ozsahin, Sylvie Di Filippo, Pascale De Lonlay, Betina Borm, Francois Rivier, Marie-Catherine Vaillant, Michèle Mathieu-Dramard, Alice Goldenberg, Géraldine Viot…
    Citation: Orphanet Journal of Rare Diseases 2013 8:70
  26. Blistering in epidermolysis bullosa simplex type Dowling-Meara (EBS-DM) is associated with an inflammatory phenotype, which can be disrupted by diacerein in vitro. In this pilot study we hypothesized, that a topi...

    Authors: Verena Wally, Sophie Kitzmueller, Florian Lagler, Angelika Moder, Wolfgang Hitzl, Martin Wolkersdorfer, Peter Hofbauer, Thomas K Felder, Michael Dornauer, Anja Diem, Nora Eiler and Johann W Bauer
    Citation: Orphanet Journal of Rare Diseases 2013 8:69
  27. Brittle cornea syndrome (BCS) is an autosomal recessive disorder characterised by extreme corneal thinning and fragility. Corneal rupture can therefore occur either spontaneously or following minimal trauma in...

    Authors: Emma MM Burkitt Wright, Louise F Porter, Helen L Spencer, Jill Clayton-Smith, Leon Au, Francis L Munier, Sarah Smithson, Mohnish Suri, Marianne Rohrbach, Forbes DC Manson and Graeme CM Black
    Citation: Orphanet Journal of Rare Diseases 2013 8:68
  28. Lupus enteritis is a rare and poorly understood cause of abdominal pain in patients with systemic lupus erythematosus (SLE). In this study, we report a series of 7 new patients with this rare condition who wer...

    Authors: Peter Janssens, Laurent Arnaud, Lionel Galicier, Alexis Mathian, Miguel Hie, Damien Sene, Julien Haroche, Catherine Veyssier-Belot, Isabelle Huynh-Charlier, Philippe A Grenier, Jean-Charles Piette and Zahir Amoura
    Citation: Orphanet Journal of Rare Diseases 2013 8:67
  29. We studied a family including two half-siblings, sharing the same mother, affected by slowly progressive, adult-onset neurological syndromes. In spite of the diversity of the clinical features, characterized b...

    Authors: Laura Melchionda, Mingyan Fang, Hairong Wang, Valeria Fugnanesi, Michela Morbin, Xuanzhu Liu, Wenyan Li, Isabella Ceccherini, Laura Farina, Mario Savoiardo, Pio D’Adamo, Jianguo Zhang, Alfredo Costa, Sabrina Ravaglia, Daniele Ghezzi and Massimo Zeviani
    Citation: Orphanet Journal of Rare Diseases 2013 8:66
  30. The association between sarcoidosis and glomerular diseases has not been extensively investigated in a large series and the potential features of this uncommon association remain to be determined.

    Authors: Thomas Stehlé, Dominique Joly, Philippe Vanhille, Jean-Jacques Boffa, Philippe Rémy, Laurent Mesnard, Maxime Hoffmann, Philippe Grimbert, Gabriel Choukroun, François Vrtovsnik, Jérôme Verine, Dominique Desvaux, Francine Walker, Philippe Lang, Matthieu Mahevas, Dil Sahali…
    Citation: Orphanet Journal of Rare Diseases 2013 8:65
  31. Wolfram Syndrome (WFS:OMIM 222300) is an autosomal recessive, progressive, neurologic and endocrinologic degenerative disorder caused by mutations in the WFS1 gene, encoding the endoplasmic reticulum (ER) prot...

    Authors: Bess A Marshall, M Alan Permutt, Alexander R Paciorkowski, James Hoekel, Roanne Karzon, Jon Wasson, Amy Viehover, Neil H White, Joshua S Shimony, Linda Manwaring, Paul Austin, Timothy E Hullar and Tamara Hershey
    Citation: Orphanet Journal of Rare Diseases 2013 8:64
  32. Floating-Harbor syndrome (FHS) is a rare condition characterized by short stature, delays in expressive language, and a distinctive facial appearance. Recently, heterozygous truncating mutations in SRCAP were det...

    Authors: Sarah M Nikkel, Andrew Dauber, Sonja de Munnik, Meghan Connolly, Rebecca L Hood, Oana Caluseriu, Jane Hurst, Usha Kini, Malgorzata J M Nowaczyk, Alexandra Afenjar, Beate Albrecht, Judith E Allanson, Paolo Balestri, Tawfeg Ben-Omran, Francesco Brancati, Isabel Cordeiro…
    Citation: Orphanet Journal of Rare Diseases 2013 8:63
  33. We recently described a novel autosomal recessive neurodevelopmental disorder with intellectual disability in four patients from two related Hutterite families. Identity-by-descent mapping localized the gene t...

    Authors: Chandree L Beaulieu, Lijia Huang, A Micheil Innes, Marie-Andree Akimenko, Erik G Puffenberger, Charles Schwartz, Paul Jerry, Carole Ober, Robert A Hegele, D Ross McLeod, Jeremy Schwartzentruber, Jacek Majewski, Dennis E Bulman, Jillian S Parboosingh and Kym M Boycott
    Citation: Orphanet Journal of Rare Diseases 2013 8:62
  34. Dystrophic Epidermolysis Bullosa (DEB) is a rare genodermatosis (7 cases per million) that causes blisters and erosions with minor trauma in skin and mucosa, and other systemic complications. A recently update...

    Authors: Paula Davila-Seijo, Angela Hernández-Martín, Evanina Morcillo-Makow, Raúlde Lucas, Esther Domínguez, Natividad Romero, Eva Monrós, Marta Feito, Luis Carretero, Bea Aranegui and Ignacio García-Doval
    Citation: Orphanet Journal of Rare Diseases 2013 8:61
  35. Currently, clinical trials for new therapeutic strategies are being planned for Duchenne and Becker muscular dystrophies (DMD/BMD). However, it is difficult to obtain adequate numbers of patients in clinical t...

    Authors: Harumasa Nakamura, En Kimura, Madoka Mori-Yoshimura, Hirofumi Komaki, Yu Matsuda, Kanako Goto, Yukiko K Hayashi, Ichizo Nishino, Shin‘ichi Takeda and Mitsuru Kawai
    Citation: Orphanet Journal of Rare Diseases 2013 8:60
  36. Primary autosomal recessive microcephaly (MCPH) is a rare neurodevelopmental disorder that results in severe microcephaly at birth with pronounced reduction in brain volume, particularly of the neocortex, simp...

    Authors: Lina Issa, Katrin Mueller, Katja Seufert, Nadine Kraemer, Henning Rosenkotter, Olaf Ninnemann, Michael Buob, Angela M Kaindl and Deborah J Morris-Rosendahl
    Citation: Orphanet Journal of Rare Diseases 2013 8:59
  37. Classic Ehlers–Danlos syndrome (cEDS) is a rare autosomal dominant connective tissue disorder that is primarily characterized by skin hyperextensibility, abnormal wound healing/atrophic scars, and joint hyperm...

    Authors: Marco Ritelli, Chiara Dordoni, Marina Venturini, Nicola Chiarelli, Stefano Quinzani, Michele Traversa, Nicoletta Zoppi, Annalisa Vascellaro, Anita Wischmeijer, Emanuela Manfredini, Livia Garavelli, Piergiacomo Calzavara-Pinton and Marina Colombi
    Citation: Orphanet Journal of Rare Diseases 2013 8:58
  38. Hyperlysinemia is an autosomal recessive inborn error of L-lysine degradation. To date only one causal mutation in the AASS gene encoding α-aminoadipic semialdehyde synthase has been reported. We aimed to better ...

    Authors: Sander M Houten, Heleen te Brinke, Simone Denis, Jos PN Ruiter, Alida C Knegt, Johannis BC de Klerk, Persephone Augoustides-Savvopoulou, Johannes Häberle, Matthias R Baumgartner, Turgay Coşkun, Johannes Zschocke, Jörn Oliver Sass, Bwee Tien Poll-The, Ronald JA Wanders and Marinus Duran
    Citation: Orphanet Journal of Rare Diseases 2013 8:57
  39. Oral sub mucous fibrosis is a rare chronic, progressive, pre malignant collagen disorder of oral mucosa in people of Asian descent characterized by trismus, blanching and stiffness of mucosa, burning sensation...

    Authors: Muhammad Faisal, Madiha Rana, Anjum Shaheen, Riaz Warraich, Horst Kokemueller, André Michael Eckardt, Nils-Claudius Gellrich and Majeed Rana
    Citation: Orphanet Journal of Rare Diseases 2013 8:56

    The Erratum to this article has been published in Orphanet Journal of Rare Diseases 2013 8:86

  40. Patients with multiple colorectal adenomas are currently screened for germline mutations in two genes, APC and MUTYH. APC-mutated patients present classic or attenuated familial adenomatous polyposis (FAP/AFAP), ...

    Authors: Giovana Tardin Torrezan, Felipe Cavalcanti Carneiro da Silva, Érika Maria Monteiro Santos, Ana Cristina Victorino Krepischi, Maria Isabel Waddington Achatz, Samuel Aguiar Junior, Benedito Mauro Rossi and Dirce Maria Carraro
    Citation: Orphanet Journal of Rare Diseases 2013 8:54
  41. Pulmonary alveolar proteinosis (PAP) is a rare disorder characterised by abundant alveolar accumulation of surfactant lipoproteins. Serum levels of KL-6, high molecular weight human MUC1 mucin, are increased i...

    Authors: Francesco Bonella, Shinichiro Ohshimo, Cai Miaotian, Matthias Griese, Josune Guzman and Ulrich Costabel
    Citation: Orphanet Journal of Rare Diseases 2013 8:53
  42. Malignant atrophic papulosis (Köhlmeier-Degos disease; MAP) is an uncommon endotheliopathy with pathological findings similar to the vascular lesions of systemic sclerosis. These two disorders can overlap. Whe...

    Authors: Lee S Shapiro, Aixa E Toledo-Garcia and Jessica F Farrell
    Citation: Orphanet Journal of Rare Diseases 2013 8:52
  43. Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome; MPS VI) is an autosomal recessive lysosomal storage disorder in which deficiency of N-acetylgalactosamine 4-sulfatase (arylsulfatase B; ARSB) leads to th...

    Authors: Marion M Brands, Marianne Hoogeveen-Westerveld, Marian A Kroos, Willemieke Nobel, George J Ruijter, Lale Özkan, Iris Plug, Daniel Grinberg, Lluïsa Vilageliu, Dicky J Halley, Ans T van der Ploeg and Arnold J Reuser
    Citation: Orphanet Journal of Rare Diseases 2013 8:51
  44. Primary hyperparathyroidism (PHPT) is most commonly sporadic (sPHPT). However, sometimes PHPT develops as part of multiple endocrine neoplasia (MEN) type 1 or 2A. In all, parathyroidectomy is the only curative...

    Authors: Bas A Twigt, Anouk Scholten, Gerlof D Valk, Inne HM Borel Rinkes and Menno R Vriens
    Citation: Orphanet Journal of Rare Diseases 2013 8:50
  45. The editors of Orphanet Journal of Rare Diseases would like to thank all our reviewers who have contributed to the journal in volume 7 (2012).

    Authors: Ségolène Aymé
    Citation: Orphanet Journal of Rare Diseases 2013 8:39
  46. Pompe disease is a rare metabolic myopathy for which disease-specific enzyme replacement therapy (ERT) has been available since 2006. ERT has shown efficacy concerning muscle strength and pulmonary function in...

    Authors: Deniz Güngör, Michelle E Kruijshaar, Iris Plug, Ralph B D’Agostino, Marloes LC Hagemans, Pieter A van Doorn, Arnold JJ Reuser and Ans T van der Ploeg
    Citation: Orphanet Journal of Rare Diseases 2013 8:49