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  1. Gaucher disease (GD) is due to deficiency of the glucocerebrosidase enzyme. It is panethnic, but its presentation reveals ethnicity-specific characteristics.

    Authors: Pilar Giraldo, Pilar Alfonso, Pilar Irún, Laura Gort, Amparo Chabás, Lluïsa Vilageliu, Daniel Grinberg, Clara M Sá Miranda and Miguel Pocovi
    Citation: Orphanet Journal of Rare Diseases 2012 7:17
  2. Neonatal screening for Pompe disease has been introduced in Taiwan and a few U.S. states, while other jurisdictions including some European countries are piloting or considering this screening. First-tier scre...

    Authors: Stephanie Shifra Weinreich, Tessel Rigter, Carla Geertruida van El, Wybo Jan Dondorp, Pieter Johannes Kostense, Ans T van der Ploeg, Arnold JJ Reuser, Martina Cornelia Cornel and Marloes Louise Catharina Hagemans
    Citation: Orphanet Journal of Rare Diseases 2012 7:15
  3. Cystic fibrosis (CF) is an autosomal recessive disorder whose incidence has long been estimated as 1/2500 live births in Caucasians. Expanding implementation of newborn screening (NBS) programs now allows a be...

    Authors: Virginie Scotet, Ingrid Duguépéroux, Philippe Saliou, Gilles Rault, Michel Roussey, Marie-Pierre Audrézet and Claude Férec
    Citation: Orphanet Journal of Rare Diseases 2012 7:14
  4. Nijmegen breakage syndrome (NBS) is a rare autosomal recessive syndrome of chromosomal instability mainly characterized by microcephaly at birth, combined immunodeficiency and predisposition to malignancies. D...

    Authors: Krystyna H Chrzanowska, Hanna Gregorek, Bożenna Dembowska-Bagińska, Maria A Kalina and Martin Digweed
    Citation: Orphanet Journal of Rare Diseases 2012 7:13
  5. Most inborn errors of metabolism (IEM) are recessive, genetically transmitted diseases and are classified into 3 main groups according to their mechanisms: cellular intoxication, energy deficiency, and defects...

    Authors: Marie-Christine Vantyghem, Dries Dobbelaere, Karine Mention, Jean-Louis Wemeau, Jean-Marie Saudubray and Claire Douillard
    Citation: Orphanet Journal of Rare Diseases 2012 7:11
  6. Approximately 20% of adrenoleukodystrophy (X-ALD) female carriers may develop clinical manifestations, typically consisting of progressive spastic gait, sensory deficits and bladder dysfunctions. A skewing in ...

    Authors: Ettore Salsano, Silvia Tabano, Silvia M Sirchia, Patrizia Colapietro, Barbara Castellotti, Cinzia Gellera, Marco Rimoldi, Viviana Pensato, Caterina Mariotti, Davide Pareyson, Monica Miozzo and Graziella Uziel
    Citation: Orphanet Journal of Rare Diseases 2012 7:10
  7. Despite its first description over 40 years ago, knowledge of the clinical course of isovaleric acidemia (IVA), a disorder predisposing to severe acidotic episodes during catabolic stress, is still anecdotal. ...

    Authors: Sarah C Grünert, Udo Wendel, Martin Lindner, Michael Leichsenring, K Otfried Schwab, Jerry Vockley, Willy Lehnert and Regina Ensenauer
    Citation: Orphanet Journal of Rare Diseases 2012 7:9
  8. Inherited retinal disorders are clinically and genetically heterogeneous with more than 150 gene defects accounting for the diversity of disease phenotypes. So far, mutation detection was mainly performed by A...

    Authors: Isabelle Audo, Kinga M Bujakowska, Thierry Léveillard, Saddek Mohand-Saïd, Marie-Elise Lancelot, Aurore Germain, Aline Antonio, Christelle Michiels, Jean-Paul Saraiva, Mélanie Letexier, José-Alain Sahel, Shomi S Bhattacharya and Christina Zeitz
    Citation: Orphanet Journal of Rare Diseases 2012 7:8
  9. Poikiloderma with Neutropenia (PN) is a rare autosomal recessive genodermatosis caused by C16orf57 mutations. To date 17 mutations have been identified in 31 PN patients.

    Authors: Elisa A Colombo, J Fernando Bazan, Gloria Negri, Cristina Gervasini, Nursel H Elcioglu, Deniz Yucelten, Ilknur Altunay, Umram Cetincelik, Anna Teti, Andrea Del Fattore, Matteo Luciani, Spencer K Sullivan, Albert C Yan, Ludovica Volpi and Lidia Larizza
    Citation: Orphanet Journal of Rare Diseases 2012 7:7
  10. Menkes Disease (MD) is a rare X-linked recessive fatal neurodegenerative disorder caused by mutations in the ATP7A gene, and most patients are males. Female carriers are mosaics of wild-type and mutant cells due ...

    Authors: Lisbeth Birk Møller, Malgorzata Lenartowicz, Marie-Therese Zabot, Arnaud Josiane, Lydie Burglen, Chris Bennett, Daniel Riconda, Richard Fisher, Sandra Janssens, Shehla Mohammed, Margreet Ausems, Zeynep Tümer, Nina Horn and Thomas G Jensen
    Citation: Orphanet Journal of Rare Diseases 2012 7:6
  11. Premature ovarian failure (POF) is a complex and heterogeneous disorder that is influenced by multiple genetic components. Numerous candidate gene studies designed to identify POF susceptibility loci have been...

    Authors: Yingying Qin, Mei Sun, Li You, Deying Wei, Jielin Sun, Xiaoyan Liang, Bo Zhang, Hong Jiang, Jianfeng Xu and Zi-Jiang Chen
    Citation: Orphanet Journal of Rare Diseases 2012 7:5
  12. Oral-Facial-Digital Syndrome type VI (OFD VI) represents a rare phenotypic subtype of Joubert syndrome and related disorders (JSRD). In the original report polydactyly, oral findings, intellectual disability, ...

    Authors: Andrea Poretti, Giuseppina Vitiello, Raoul CM Hennekam, Filippo Arrigoni, Enrico Bertini, Renato Borgatti, Francesco Brancati, Stefano D'Arrigo, Francesca Faravelli, Lucio Giordano, Thierry AGM Huisman, Miriam Iannicelli, Gerhard Kluger, Marten Kyllerman, Magnus Landgren, Melissa M Lees…
    Citation: Orphanet Journal of Rare Diseases 2012 7:4
  13. Gastric lactobezoar, a pathological conglomeration of milk and mucus in the stomach of milk-fed infants often causing gastric outlet obstruction, is a rarely reported disorder (96 cases since its first descrip...

    Authors: Peter Heinz-Erian, Ingmar Gassner, Andreas Klein-Franke, Veronika Jud, Rudolf Trawoeger, Christian Niederwanger, Thomas Mueller, Bernhard Meister and Sabine Scholl-Buergi
    Citation: Orphanet Journal of Rare Diseases 2012 7:3
  14. Chromosome 15q24 microdeletion syndrome is a recently described rare microdeletion syndrome that has been reported in 19 individuals. It is characterized by growth retardation, intellectual disability, and dis...

    Authors: Pilar L Magoulas and Ayman W El-Hattab
    Citation: Orphanet Journal of Rare Diseases 2012 7:2
  15. Congenital Diaphragmatic Hernia (CDH) is defined by the presence of an orifice in the diaphragm, more often left and posterolateral that permits the herniation of abdominal contents into the thorax. The lungs ...

    Authors: Juan A Tovar
    Citation: Orphanet Journal of Rare Diseases 2012 7:1
  16. Congenital dyserythropoietic anemia type II (CDAII), the most common form of CDA, is an autosomal recessive condition. CDAII diagnosis is based on invasive, expensive, and time consuming tests that are availab...

    Authors: Francesca Punzo, Aida M Bertoli-Avella, Saverio Scianguetta, Fulvio Della Ragione, Maddalena Casale, Luisa Ronzoni, Maria D Cappellini, Gianluca Forni, Ben A Oostra and Silverio Perrotta
    Citation: Orphanet Journal of Rare Diseases 2011 6:89
  17. Osteogenesis Imperfecta (OI) is a heritable connective tissue disorder mainly caused by mutations in the genes COL1A1 and COL1A2 and is associated with hearing loss in approximately half of the cases. The hearing...

    Authors: Freya KR Swinnen, Paul J Coucke, Anne M De Paepe, Sofie Symoens, Fransiska Malfait, Filomena V Gentile, Luca Sangiorgi, Patrizia D'Eufemia, Mauro Celli, Ton JTM Garretsen, Cor WRJ Cremers, Ingeborg JM Dhooge and Els MR De Leenheer
    Citation: Orphanet Journal of Rare Diseases 2011 6:88
  18. The ganglioside-induced differentiation-associated protein 1 gene (GDAP1), which is involved in the Charcot-Marie-Tooth disease (CMT), the most commonly inherited peripheral neuropathy, encodes a protein anchored...

    Authors: Julien Cassereau, Arnaud Chevrollier, Dominique Bonneau, Christophe Verny, Vincent Procaccio, Pascal Reynier and Marc Ferré
    Citation: Orphanet Journal of Rare Diseases 2011 6:87
  19. Nephropathic cystinosis is an autosomal recessive disorder resulting in an impaired transport of cystine trough the lysosomal membrane causing an accumulation of free cystine in lysosomes. The only specific tr...

    Authors: Naïm Bouazza, Jean-Marc Tréluyer, Chris Ottolenghi, Saik Urien, Georges Deschenes, Daniel Ricquier, Patrick Niaudet and Bernadette Chadefaux-Vekemans
    Citation: Orphanet Journal of Rare Diseases 2011 6:86
  20. Hereditary hemorrhagic telangiectasia (HHT) is a vascular disorder characterized by epistaxis, arteriovenous malformations, and telangiectases. The majority of the patients have a mutation in the coding region...

    Authors: Kristy Damjanovich, Carmen Langa, Francisco J Blanco, Jamie McDonald, Luisa M Botella, Carmelo Bernabeu, Whitney Wooderchak-Donahue, David A Stevenson and Pinar Bayrak-Toydemir
    Citation: Orphanet Journal of Rare Diseases 2011 6:85
  21. This study was conducted to identify potential biomarkers that could be used to evaluate disease progression and monitor responses to enzyme replacement therapy (ERT) in patients with mucopolysaccharidosis (MP...

    Authors: Lisa Martell, Kelly Lau, Miranda Mei, Vicki Burnett, Celeste Decker and Erik D Foehr
    Citation: Orphanet Journal of Rare Diseases 2011 6:84
  22. Vinblastine (VBL) is the standard treatment for systemic Langerhans cell histiocytosis (LCH), but little is known about its efficacy in central nervous system (CNS) mass lesions.

    Authors: Sophie Ng Wing Tin, Nadine Martin-Duverneuil, Ahmed Idbaih, Catherine Garel, Maria Ribeiro, Judith Landman Parker, Anne-Sophie Defachelles, Anne Lambilliotte, Mohamed Barkaoui, Martine Munzer, Martine Gardembas, Jean Sibilia, Patrick Lutz, Renato Fior, Michel Polak, Alain Robert…
    Citation: Orphanet Journal of Rare Diseases 2011 6:83
  23. Before the concept of autoimmune pancreatitis (AIP) was established, this form of pancreatitis had been recognized as lymphoplasmacytic sclerosing pancreatitis or non-alcoholic duct destructive chronic pancrea...

    Authors: Yoh Zen, Dimitrios P Bogdanos and Shigeyuki Kawa
    Citation: Orphanet Journal of Rare Diseases 2011 6:82
  24. A laryngo-tracheo-esophageal cleft (LC) is a congenital malformation characterized by an abnormal, posterior, sagittal communication between the larynx and the pharynx, possibly extending downward between the ...

    Authors: Nicolas Leboulanger and Eréa-Noël Garabédian
    Citation: Orphanet Journal of Rare Diseases 2011 6:81
  25. Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification ...

    Authors: Robert J Pignolo, Eileen M Shore and Frederick S Kaplan
    Citation: Orphanet Journal of Rare Diseases 2011 6:80
  26. Anderson's Disease (AD)/Chylomicron Retention Disease (CMRD) is a rare hereditary hypocholesterolemic disorder characterized by a malabsorption syndrome with steatorrhea, failure to thrive and the absence of c...

    Authors: Tomoo Okada, Michio Miyashita, Junji Fukuhara, Masahiko Sugitani, Takahiro Ueno, Marie-Elisabeth Samson-Bouma and Lawrence P Aggerbeck
    Citation: Orphanet Journal of Rare Diseases 2011 6:78
  27. A multidisciplinary outpatient department was set up in the northern part of the Netherlands because of a local lack of adequate treatment and care for Huntington's disease (HD)patients. Outreaching multidisci...

    Authors: Ruth B Veenhuizen, Branda Kootstra, Wilma Vink, Janneke Posthumus, Pleuntje van Bekkum, Margriet Zijlstra and Jelleke Dokter
    Citation: Orphanet Journal of Rare Diseases 2011 6:77
  28. The hyper-IgE syndromes are rare, complex primary immunodeficiencies characterized by clinical manifestation diversity, by particular susceptibility to staphylococcal and mycotic infections as well as by a het...

    Authors: Aleksandra Szczawinska-Poplonyk, Zdzislawa Kycler, Barbara Pietrucha, Edyta Heropolitanska-Pliszka, Anna Breborowicz and Karolina Gerreth
    Citation: Orphanet Journal of Rare Diseases 2011 6:76
  29. Imerslund-Gräsbeck syndrome (IGS) was described just over 50 years ago by Olga Imerslund and Ralph Gräsbeck and colleagues. IGS is caused by specific malabsorption of cobalamin (Cbl) due to bi-allelic mutation...

    Authors: Cameron M Beech, Sandya Liyanarachchi, Nidhi P Shah, Amy C Sturm, May F Sadiq, Albert de la Chapelle and Stephan M Tanner
    Citation: Orphanet Journal of Rare Diseases 2011 6:74
  30. Menkes disease (MD) is an X-linked, fatal neurodegenerative disorder of copper metabolism, caused by mutations in the ATP7A gene. Thirty-three Menkes patients in whom no mutation had been detected with standard d...

    Authors: Mie Mogensen, Tina Skjørringe, Hiroko Kodama, Kenneth Silver, Nina Horn and Lisbeth B Møller
    Citation: Orphanet Journal of Rare Diseases 2011 6:73
  31. Mucopolysaccharidosis type II (MPS II) is a rare, life-limiting, X-linked recessive disease characterised by deficiency of the lysosomal enzyme iduronate-2-sulfatase. Consequent accumulation of glycosaminoglyc...

    Authors: Maurizio Scarpa, Zsuzsanna Almássy, Michael Beck, Olaf Bodamer, Iain A Bruce, Linda De Meirleir, Nathalie Guffon, Encarna Guillén-Navarro, Pauline Hensman, Simon Jones, Wolfgang Kamin, Christoph Kampmann, Christina Lampe, Christine A Lavery, Elisa Leão Teles, Bianca Link…
    Citation: Orphanet Journal of Rare Diseases 2011 6:72
  32. Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease characterized by degeneration of alpha motor neurons in the spinal cord, resulting in progressive proximal muscle weakness and para...

    Authors: Adele D'Amico, Eugenio Mercuri, Francesco D Tiziano and Enrico Bertini
    Citation: Orphanet Journal of Rare Diseases 2011 6:71
  33. Xeroderma pigmentosum (XP) is defined by extreme sensitivity to sunlight, resulting in sunburn, pigment changes in the skin and a greatly elevated incidence of skin cancers. It is a rare autosomal recessive di...

    Authors: Alan R Lehmann, David McGibbon and Miria Stefanini
    Citation: Orphanet Journal of Rare Diseases 2011 6:70
  34. Enzyme replacement therapy is currently the only approved therapy for Fabry disease. From June 2009 on, viral contamination of Genzyme's production facility resulted in a worldwide shortage of agalsidase beta ...

    Authors: Bouwien E Smid, Saskia M Rombach, Johannes MFG Aerts, Symen Kuiper, Mina Mirzaian, Hermen S Overkleeft, Ben JHM Poorthuis, Carla EM Hollak, Johanna EM Groener and Gabor E Linthorst
    Citation: Orphanet Journal of Rare Diseases 2011 6:69
  35. Neuroacanthocytosis (NA) syndromes are a group of genetically defined diseases characterized by the association of red blood cell acanthocytosis and progressive degeneration of the basal ganglia. NA syndromes ...

    Authors: Hans H Jung, Adrian Danek and Ruth H Walker
    Citation: Orphanet Journal of Rare Diseases 2011 6:68
  36. Somatotropinoma, a pituitary adenoma characterised by excessive production of growth hormone (GH), is extremely rare in childhood. A genetic defect is evident in some cases; known genetic changes include: mult...

    Authors: Cécile Nozières, Pascale Berlier, Clémentine Dupuis, Catherine Raynaud-Ravni, Yves Morel, Françoise Borson Chazot and Marc Nicolino
    Citation: Orphanet Journal of Rare Diseases 2011 6:67
  37. Fabry disease is a rare disorder caused by a large variety of mutations in the gene encoding lysosomal alpha-galactosidase. Many of these mutations are unique to individual families. Fabry disease can be treat...

    Authors: Giuseppina Andreotti, Valentina Citro, Agostina De Crescenzo, Pierangelo Orlando, Marco Cammisa, Antonella Correra and Maria Vittoria Cubellis
    Citation: Orphanet Journal of Rare Diseases 2011 6:66
  38. Usher Syndrome type II (USH2) is an autosomal recessive disorder, characterized by moderate to severe hearing impairment and retinitis pigmentosa (RP). Among the three genes implicated, mutations in the USH2A gen...

    Authors: Gema Garcia-Garcia, Maria J Aparisi, Teresa Jaijo, Regina Rodrigo, Ana M Leon, Almudena Avila-Fernandez, Fiona Blanco-Kelly, Sara Bernal, Rafael Navarro, Manuel Diaz-Llopis, Montserrat Baiget, Carmen Ayuso, Jose M Millan and Elena Aller
    Citation: Orphanet Journal of Rare Diseases 2011 6:65
  39. Classification of the overall spectrum of congenital heart defects (CHD) has always been challenging, in part because of the diversity of the cardiac phenotypes, but also because of the oft-complex association...

    Authors: Lucile Houyel, Babak Khoshnood, Robert H Anderson, Nathalie Lelong, Anne-Claire Thieulin, François Goffinet and Damien Bonnet
    Citation: Orphanet Journal of Rare Diseases 2011 6:64
  40. Congenital hyperinsulinism (HI) is an inappropriate insulin secretion by the pancreatic β-cells secondary to various genetic disorders. The incidence is estimated at 1/50, 000 live births, but it may be as hig...

    Authors: Jean-Baptiste Arnoux, Virginie Verkarre, Cécile Saint-Martin, Françoise Montravers, Anaïs Brassier, Vassili Valayannopoulos, Francis Brunelle, Jean-Christophe Fournet, Jean-Jacques Robert, Yves Aigrain, Christine Bellanné-Chantelot and Pascale de Lonlay
    Citation: Orphanet Journal of Rare Diseases 2011 6:63
  41. In clinical research of rare diseases, where small patient numbers and disease heterogeneity limit study design options, registries are a valuable resource for demographic and outcome information. However, in ...

    Authors: J Alexander Cole, John S Taylor, Thomas N Hangartner, Neal J Weinreb, Pramod K Mistry and Aneal Khan
    Citation: Orphanet Journal of Rare Diseases 2011 6:61
  42. Hemolytic uremic syndrome (HUS) is defined by the triad of mechanical hemolytic anemia, thrombocytopenia and renal impairment. Atypical HUS (aHUS) defines non Shiga-toxin-HUS and even if some authors include s...

    Authors: Chantal Loirat and Véronique Frémeaux-Bacchi
    Citation: Orphanet Journal of Rare Diseases 2011 6:60
  43. We determined whether the market exclusivity incentive of the European Orphan Drug Regulation results in a market monopoly or that absence of another Orphan Medicinal Product (OMP) for the same rare disorder, ...

    Authors: Anne EM Brabers, Ellen HM Moors, Sonja van Weely and Remco LA de Vrueh
    Citation: Orphanet Journal of Rare Diseases 2011 6:59
  44. Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder, which is usually caused by de novo mutations in the MECP2 gene. More than 70% of the disease causing MECP2 mutations are eight recurrent C ...

    Authors: Kirstine Ravn, Gitte Roende, Morten Duno, Kathrine Fuglsang, Kristin L Eiklid, Zeynep Tümer, Jytte B Nielsen and Ola H Skjeldal
    Citation: Orphanet Journal of Rare Diseases 2011 6:58
  45. VACTERL/VATER association is typically defined by the presence of at least three of the following congenital malformations: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal a...

    Authors: Benjamin D Solomon
    Citation: Orphanet Journal of Rare Diseases 2011 6:56