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  1. Ataxia Teleangiectasia [AT] is a rare neurodegenerative disease characterized by early onset ataxia, oculocutaneous teleangiectasias, immunodeficiency, recurrent infections, radiosensitivity and proneness to c...

    Authors: Luciana Chessa, Vincenzo Leuzzi, Alessandro Plebani, Annarosa Soresina, Roberto Micheli, Daniela D’Agnano, Tullia Venturi, Anna Molinaro, Elisa Fazzi, Mirella Marini, Pierino Ferremi Leali, Isabella Quinti, Filomena Monica Cavaliere, Gabriella Girelli, Maria Cristina Pietrogrande, Andrea Finocchi…
    Citation: Orphanet Journal of Rare Diseases 2014 9:5
  2. Spinal Muscular Atrophy (SMA) is one of the most common inherited causes of infant death and is caused by the loss of functional survival motor neuron (SMN) protein due to mutations or deletion in the SMN1 gene. ...

    Authors: Jeremiah Hadwen, Duncan MacKenzie, Fahad Shamim, Kevin Mongeon, Martin Holcik, Alex MacKenzie and Faraz Farooq
    Citation: Orphanet Journal of Rare Diseases 2014 9:4
  3. To demonstrate and clinically, genetically and demographically characterize familial Mediterranean fever (FMF) patients, maintaining remission despite colchicine abstinence.

    Authors: Ilan Ben-Zvi, Tami Krichely-Vachdi, Olga Feld, Merav Lidar, Shaye Kivity and Avi Livneh
    Citation: Orphanet Journal of Rare Diseases 2014 9:3
  4. Primary asplenia is a rare condition with poorly known etiology. Mowat-Wilson syndrome (MWS) is characterized by typical facial dysmorphisms, intellectual disability, microcephaly, epilepsy and the possible pr...

    Authors: Linda Pons, Sophie Dupuis-Girod, Marie-Pierre Cordier, Patrick Edery and Massimiliano Rossi
    Citation: Orphanet Journal of Rare Diseases 2014 9:2
  5. Inherited ichthyoses represent a group of rare skin disorders characterized by scaling, hyperkeratosis and inconstant erythema, involving most of the tegument. Epidemiology remains poorly described. This study...

    Authors: Isabelle Dreyfus, Cécile Chouquet, Khaled Ezzedine, Sophie Henner, Christine Chiavérini, Aude Maza, Sandrine Pascal, Lauriane Rodriguez, Pierre Vabres, Ludovic Martin, Stéphanie Mallet, Sébastien Barbarot, Jérôme Dupuis and Juliette Mazereeuw-Hautier
    Citation: Orphanet Journal of Rare Diseases 2014 9:1
  6. Arteriovenous malformations (AVMs) are a type of high-flow vascular malformations that most commonly occurs in the head and neck. They are present at birth but are usually clinically asymptomatic until later i...

    Authors: Fang Hou, Yuemeng Dai, James Y Suen, Chunyang Fan, Ali G Saad and Gresham T Richter
    Citation: Orphanet Journal of Rare Diseases 2013 8:199
  7. National payers across Europe have been increasingly looking into innovative reimbursement approaches – called managed entry agreements (MEAs) – to balance the need to provide rapid access to potentially benef...

    Authors: Thomas Morel, Francis Arickx, Gustaf Befrits, Paolo Siviero, Caroline van der Meijden, Entela Xoxi and Steven Simoens
    Citation: Orphanet Journal of Rare Diseases 2013 8:198
  8. Triglyceride deposit cardiomyovasculopathy (TGCV) is a rare disease, characterized by the massive accumulation of triglyceride (TG) in multiple tissues, especially skeletal muscle, heart muscle and the coronar...

    Authors: Yasuhiro Hara, Naoko Kawasaki, Ken-ichi Hirano, Yuuki Hashimoto, Jun Adachi, Shio Watanabe and Takeshi Tomonaga
    Citation: Orphanet Journal of Rare Diseases 2013 8:197
  9. Mevalonate kinase deficiency (MKD) is caused by mutations in the MVK gene, encoding the second enzyme of mevalonate pathway, which results in subsequent shortage of downstream compounds, and starts in childhood w...

    Authors: Luca Cantarini, Antonio Vitale, Flora Magnotti, Orso Maria Lucherini, Francesco Caso, Bruno Frediani, Mauro Galeazzi and Donato Rigante
    Citation: Orphanet Journal of Rare Diseases 2013 8:196
  10. Hereditary haemorrhagic telangiectasia (HHT) is inherited as an autosomal dominant trait, affects ~1 in 5,000, and causes multi-systemic vascular lesions and life-limiting complications. Life expectancy is sur...

    Authors: Anna E Hosman, Hannah L Devlin, B Maneesha Silva and Claire L Shovlin
    Citation: Orphanet Journal of Rare Diseases 2013 8:195
  11. Congenital chloride diarrhea (CLD) is an autosomal recessive disorder characterized by life-long, severe diarrhea with intestinal Cl- malabsorption. It results from a reduced activity of the down regulated in ade...

    Authors: Roberto Berni Canani, Gianluca Terrin, Ausilia Elce, Vincenza Pezzella, Peter Heinz-Erian, Annalisa Pedrolli, Chiara Centenari, Felice Amato, Rossella Tomaiuolo, Antonio Calignano, Riccardo Troncone and Giuseppe Castaldo
    Citation: Orphanet Journal of Rare Diseases 2013 8:194
  12. Mutations in the mitochondrial tyrosyl-tRNA synthetase (YARS2) gene have previously been identified as a cause of the tissue specific mitochondrial respiratory chain (RC) disorder, Myopathy, Lactic Acidosis, Side...

    Authors: Lisa G Riley, Minal J Menezes, Joëlle Rudinger-Thirion, Rachael Duff, Pascale de Lonlay, Agnes Rotig, Michel C Tchan, Mark Davis, Sandra T Cooper and John Christodoulou
    Citation: Orphanet Journal of Rare Diseases 2013 8:193
  13. Synthesis and apoenzyme attachment of lipoic acid have emerged as a new complex metabolic pathway. Mutations in several genes involved in the lipoic acid de novo pathway have recently been described (i.e., LIAS, ...

    Authors: Yohan Soreze, Audrey Boutron, Florence Habarou, Christine Barnerias, Luc Nonnenmacher, Hélène Delpech, Asmaa Mamoune, Dominique Chrétien, Laurence Hubert, Christine Bole-Feysot, Patrick Nitschke, Isabelle Correia, Claude Sardet, Nathalie Boddaert, Yamina Hamel, Agnès Delahodde…
    Citation: Orphanet Journal of Rare Diseases 2013 8:192
  14. Phenylketonuria (PKU, ORPHA716) is an inherited disorder that affects about one in every 10,000 children born in Europe. Early and continuous application of a modified diet is largely successful in preventing ...

    Authors: Tobias S Hagedorn, Paul van Berkel, Gregor Hammerschmidt, Markéta Lhotáková and Rosalia Pasqual Saludes
    Citation: Orphanet Journal of Rare Diseases 2013 8:191
  15. Abnormal activation of endochondral bone formation in soft tissues causes significant medical diseases associated with disability and pain. Hyperactive mutations in the bone morphogenetic protein (BMP) type 1 ...

    Authors: Yoshihisa Matsumoto, Yohei Hayashi, Christopher R Schlieve, Makoto Ikeya, Hannah Kim, Trieu D Nguyen, Salma Sami, Shiro Baba, Emilie Barruet, Akira Nasu, Isao Asaka, Takanobu Otsuka, Shinya Yamanaka, Bruce R Conklin, Junya Toguchida and Edward C Hsiao
    Citation: Orphanet Journal of Rare Diseases 2013 8:190
  16. Mucopolysaccharidosis type III (MPS III), or Sanfilippo syndrome, is caused by a deficiency in one of the four enzymes involved in the lysosomal degradation of heparan sulphate. Four MPS III types have been re...

    Authors: Verónica Delgadillo, Maria del Mar O’Callaghan, Laura Gort, Maria Josep Coll and Mercedes Pineda
    Citation: Orphanet Journal of Rare Diseases 2013 8:189
  17. Deficiency of 3-hydroxy-isobutyryl-CoA hydrolase (HIBCH) caused by HIBCH mutations is a rare cerebral organic aciduria caused by disturbance of valine catabolism. Multiple mitochondrial respiratory chain (RC) enz...

    Authors: Sacha Ferdinandusse, Hans R Waterham, Simon JR Heales, Garry K Brown, Iain P Hargreaves, Jan-Willem Taanman, Roxana Gunny, Lara Abulhoul, Ronald JA Wanders, Peter T Clayton, James V Leonard and Shamima Rahman
    Citation: Orphanet Journal of Rare Diseases 2013 8:188
  18. Despite it has been reported that several loci are involved in Hirschsprung’s disease, the molecular basis of the disease remains yet essentially unknown. The study of collective properties of modules of funct...

    Authors: Raquel M Fernández, Marta Bleda, Berta Luzón-Toro, Luz García-Alonso, Stacey Arnold, Yunia Sribudiani, Claude Besmond, Francesca Lantieri, Betty Doan, Isabella Ceccherini, Stanislas Lyonnet, Robert MW Hofstra, Aravinda Chakravarti, Guillermo Antiñolo, Joaquín Dopazo and Salud Borrego
    Citation: Orphanet Journal of Rare Diseases 2013 8:187
  19. Congenital esophageal stenosis (CES) is a rare condition frequently associated with esophageal atresia (EA). There are limited data from small series about the presentation, treatment, and outcomes of CES.

    Authors: Laurent Michaud, Frédéric Coutenier, Guillaume Podevin, Arnaud Bonnard, François Becmeur, Naziha Khen-Dunlop, Frédéric Auber, Aude Maurel, Thomas Gelas, Martine Dassonville, Corinne Borderon, Alain Dabadie, Dominique Weil, Christian Piolat, Anne Breton, Djamal Djeddi…
    Citation: Orphanet Journal of Rare Diseases 2013 8:186
  20. Degos disease is a frequently fatal and incurable occlusive vasculopathy most commonly affecting the skin, gastrointestinal tract and brain. Vascular C5b-9 deposition and a type I interferon (IFN) rich microen...

    Authors: Cynthia M Magro, Xuan Wang, Francine Garrett-Bakelman, Jeffrey Laurence, Lee S Shapiro and Maria T DeSancho
    Citation: Orphanet Journal of Rare Diseases 2013 8:185
  21. Associated anomalies have been reported in around 20% of Hirschsprung patients but many Authors suggested a measure of underestimation. We therefore implemented a prospective observational study on 106 consecu...

    Authors: Alessio Pini Prato, Valentina Rossi, Manuela Mosconi, Catarina Holm, Francesca Lantieri, Paola Griseri, Isabella Ceccherini, Domenico Mavilio, Vincenzo Jasonni, Giulia Tuo, Maria Derchi, Maurizio Marasini, Gianmichele Magnano, Claudio Granata, Gianmarco Ghiggeri, Enrico Priolo…
    Citation: Orphanet Journal of Rare Diseases 2013 8:184
  22. Pompe disease has a broad clinical spectrum, in which the phenotype is partially explained by the genotype. The aim of this study was to describe phenotypical variation among siblings with non-classic Pompe di...

    Authors: Stephan C A Wens, Carin M van Gelder, Michelle E Kruijshaar, Juna M de Vries, Nadine A M E van der Beek, Arnold J J Reuser, Pieter A van Doorn, Ans T van der Ploeg and Esther Brusse
    Citation: Orphanet Journal of Rare Diseases 2013 8:182
  23. Familial adenomatous polyposis (FAP) is a disease characterized by the development of hundreds to thousands of adenomatous polyps in the colorectum early in life. Virtually all patients with FAP will develop c...

    Authors: Bjorn WH van Heumen, Hennie MJ Roelofs, René HM te Morsche, Fokko M Nagengast and Wilbert HM Peters
    Citation: Orphanet Journal of Rare Diseases 2013 8:181
  24. We studied to what extent the level of scientific knowledge on exceptionally rare metabolic inherited diseases and their potential orphan medicinal products is associated with sponsors deciding to apply for an...

    Authors: Michelle Putzeist, Aukje K Mantel-Teeuwisse, Christine C Gispen-de Wied, Arno W Hoes, Hubert GM Leufkens and Remco LA de Vrueh
    Citation: Orphanet Journal of Rare Diseases 2013 8:179
  25. Autosomal recessive primary microcephaly (MCPH) is a rare neurodevelopmental disease with severe microcephaly at birth due to a pronounced reduction in brain volume and intellectual disability. Biallelic mutat...

    Authors: Heba Gamal Farag, Sebastian Froehler, Konrad Oexle, Ethiraj Ravindran, Detlev Schindler, Timo Staab, Angela Huebner, Nadine Kraemer, Wei Chen and Angela M Kaindl
    Citation: Orphanet Journal of Rare Diseases 2013 8:178
  26. All spinocerebellar ataxias (SCAs) are rare diseases. SCA1, 2, 3 and 6 are the four most common SCAs, all caused by expanded polyglutamine-coding CAG repeats. Their pathomechanisms are becoming increasingly cl...

    Authors: Tetsuo Ashizawa, Karla P Figueroa, Susan L Perlman, Christopher M Gomez, George R Wilmot, Jeremy D Schmahmann, Sarah H Ying, Theresa A Zesiewicz, Henry L Paulson, Vikram G Shakkottai, Khalaf O Bushara, Sheng-Han Kuo, Michael D Geschwind, Guangbin Xia, Pietro Mazzoni, Jeffrey P Krischer…
    Citation: Orphanet Journal of Rare Diseases 2013 8:177
  27. Dravet syndrome (DS) is currently considered as an epileptic encephalopathy, a condition in which epilepsy causes deterioration or developmental delay but preliminary data suggested that cognitive course may w...

    Authors: Rima Nabbout, Nicole Chemaly, Mathilde Chipaux, Giulia Barcia, Charles Bouis, Celia Dubouch, Dorothee Leunen, Isabelle Jambaqué, Olivier Dulac, Georges Dellatolas and Catherine Chiron
    Citation: Orphanet Journal of Rare Diseases 2013 8:176
  28. Neuroendocrine Cell Hyperplasia of Infancy (NEHI) and Follicular Bronchiolitis (FB) are rare pediatric diffuse lung diseases with poorly understood pathogenesis and similar clinical presentations. We sought to...

    Authors: Jonathan Popler, Brandie D Wagner, Heidi Luckey Tarro, Frank J Accurso and Robin R Deterding
    Citation: Orphanet Journal of Rare Diseases 2013 8:175
  29. To describe the neurologic profiles of Rhizomelic chondrodysplasia punctata (RCDP); a peroxisomal disorder clinically characterized by skeletal abnormalities, congenital cataracts, severe growth and developmen...

    Authors: Annemieke M Bams-Mengerink, Johannes HTM Koelman, Hans Waterham, Peter G Barth and Bwee Tien Poll-The
    Citation: Orphanet Journal of Rare Diseases 2013 8:174
  30. Autosomal recessive cerebellar ataxia 2 (ARCA2) is a recently identified recessive ataxia due to ubiquinone deficiency and biallelic mutations in the ADCK3 gene. The phenotype of the twenty-one patients reported ...

    Authors: Cyril Mignot, Emmanuelle Apartis, Alexandra Durr, Charles Marques Lourenço, Perrine Charles, David Devos, Caroline Moreau, Pascale de Lonlay, Nathalie Drouot, Lydie Burglen, Nadine Kempf, Elsa Nourisson, Sandra Chantot-Bastaraud, Anne-Sophie Lebre, Marlène Rio, Yves Chaix…
    Citation: Orphanet Journal of Rare Diseases 2013 8:173
  31. Genetic tests for hereditary hearing loss inform clinical management of patients and can provide the first step in the development of therapeutics. However, comprehensive genetic tests for deafness genes by Sa...

    Authors: Hideki Mutai, Naohiro Suzuki, Atsushi Shimizu, Chiharu Torii, Kazunori Namba, Noriko Morimoto, Jun Kudoh, Kimitaka Kaga, Kenjiro Kosaki and Tatsuo Matsunaga
    Citation: Orphanet Journal of Rare Diseases 2013 8:172
  32. Authors: Hyeon Jin Kim, Young Bin Hong, Jin-Mo Park, Yu-Ri Choi, Ye Jin Kim, Bo Ram Yoon, Heasoo Koo, Jeong Hyun Yoo, Sang Beom Kim, Minhwa Park, Ki Wha Chung and Byung-Ok Choi
    Citation: Orphanet Journal of Rare Diseases 2013 8:165

    The original article was published in Orphanet Journal of Rare Diseases 2013 8:104

  33. Rare diseases pose many research challenges specific to their scarcity. Advances in potential therapies have made it more important than ever to be able to adequately identify not only patients with particular...

    Authors: Sunil Rodger, Hanns Lochmüller, Adrian Tassoni, Kathrin Gramsch, Kirsten König, Kate Bushby, Volker Straub, Rudolf Korinthenberg and Janbernd Kirschner
    Citation: Orphanet Journal of Rare Diseases 2013 8:171
  34. Mutations in PMM2 impair phosphomannomutase-2 activity and cause the most frequent congenital disorder of glycosylation, PMM2-CDG. Mannose-1-phosphate, that is deficient in this disorder, is also implicated in th...

    Authors: Maria E de la Morena-Barrio, Trinidad Hernández-Caselles, Javier Corral, Roberto García-López, Irene Martínez-Martínez, Belen Pérez-Dueñas, Carmen Altisent, Teresa Sevivas, Soren R Kristensen, Encarna Guillén-Navarro, Antonia Miñano, Vicente Vicente, Jaak Jaeken and Maria L Lozano
    Citation: Orphanet Journal of Rare Diseases 2013 8:170
  35. Sickle cell disease (SCD) is the most frequent hemoglobinopathy worldwide but remains a rare blood disorder in most western countries. Recommendations for standard of care have been produced in the United Stat...

    Authors: Raffaella Colombatti, Silverio Perrotta, Piera Samperi, Maddalena Casale, Nicoletta Masera, Giovanni Palazzi, Laura Sainati and Giovanna Russo
    Citation: Orphanet Journal of Rare Diseases 2013 8:169
  36. Hypopigmentation disorders that are associated with immunodeficiency feature both partial albinism of hair, skin and eyes together with leukocyte defects. These disorders include Chediak Higashi (CHS), Griscel...

    Authors: Laura Dotta, Silvia Parolini, Alberto Prandini, Giovanna Tabellini, Maddalena Antolini, Stephen F Kingsmore and Raffaele Badolato
    Citation: Orphanet Journal of Rare Diseases 2013 8:168
  37. Glutaric aciduria type I (GA-I) is a rare metabolic disorder caused by inherited deficiency of glutaryl-CoA dehydrogenase. Despite high prognostic relevance of early diagnosis and start of metabolic treatment ...

    Authors: Johannes Pfeil, Stefan Listl, Georg F Hoffmann, Stefan Kölker, Martin Lindner and Peter Burgard
    Citation: Orphanet Journal of Rare Diseases 2013 8:167
  38. Niemann-Pick disease type C (NP-C) is a rare, progressive, irreversible disease leading to disabling neurological manifestations and premature death. The estimated disease incidence is 1:120,000 live births, b...

    Authors: Eugen Mengel, Hans-Hermann Klünemann, Charles M Lourenço, Christian J Hendriksz, Frédéric Sedel, Mark Walterfang and Stefan A Kolb
    Citation: Orphanet Journal of Rare Diseases 2013 8:166
  39. The difficulties associated with organising clinical studies for orphan medicinal products (OMPs) are plentiful. Recent debate on the long-term effectiveness of some OMPs, led us to question whether the initia...

    Authors: Eline Picavet, David Cassiman, Carla E Hollak, Johan A Maertens and Steven Simoens
    Citation: Orphanet Journal of Rare Diseases 2013 8:164
  40. Currently, there are no effective medical treatment options to prevent the formation of heterotopic bones in fibrodysplasia ossificans progressiva (FOP). By the drug repositioning strategy, we confirmed that p...

    Authors: Hiroshi Kitoh, Masataka Achiwa, Hiroshi Kaneko, Kenichi Mishima, Masaki Matsushita, Izumi Kadono, John D Horowitz, Benedetta C Sallustio, Kinji Ohno and Naoki Ishiguro
    Citation: Orphanet Journal of Rare Diseases 2013 8:163
  41. Monogenic autoinflammatory diseases are a group of hereditary disorders characterized by a clinical and biological inflammatory syndrome in which there is little or no evidence of autoimmunity. The discovery o...

    Authors: Isabelle Touitou, Caroline Galeotti, Linda Rossi-Semerano, Véronique Hentgen, Maryam Piram and Isabelle Koné-Paut
    Citation: Orphanet Journal of Rare Diseases 2013 8:162
  42. Idiopathic pulmonary hemosiderosis (IPH) is a rare cause of alveolar hemorrhage in children and its pathophysiology remains obscure. Classically, diagnosis is based on a triad including hemoptysis, diffuse par...

    Authors: Jessica Taytard, Nadia Nathan, Jacques de Blic, Mickael Fayon, Ralph Epaud, Antoine Deschildre, Françoise Troussier, Marc Lubrano, Raphaël Chiron, Philippe Reix, Pierrick Cros, Malika Mahloul, Delphine Michon, Annick Clement and Harriet Corvol
    Citation: Orphanet Journal of Rare Diseases 2013 8:161
  43. Glycogenosis type II (GSDII or Pompe disease) is an autosomal recessive disease, often characterized by a progressive accumulation of glycogen within lysosomes caused by a deficiency of α-1,4-glucosidase (GAA;...

    Authors: Simone Sampaolo, Teresa Esposito, Olimpia Farina, Daniela Formicola, Daria Diodato, Fernando Gianfrancesco, Federica Cipullo, Gaetana Cremone, Mario Cirillo, Luca Del Viscovo, Antonio Toscano, Corrado Angelini and Giuseppe Di Iorio
    Citation: Orphanet Journal of Rare Diseases 2013 8:159
  44. Hereditary spastic paraplegias (HSPs) are characterised by lower limb spasticity due to degeneration of the corticospinal tract. We set out for an electrophysiological characterisation of motor and sensory tra...

    Authors: Kathrin N Karle, Rebecca Schüle, Stephan Klebe, Susanne Otto, Christian Frischholz, Inga Liepelt-Scarfone and Ludger Schöls
    Citation: Orphanet Journal of Rare Diseases 2013 8:158
  45. Rare diseases are defined as life-threatening or chronically debilitating diseases with a prevalence of 50 out of 100,000 individuals or less. Orphan medicinal products (OMPs) are intended for the treatment of...

    Authors: Eline Picavet, David Cassiman, Bert Aertgeerts and Steven Simoens
    Citation: Orphanet Journal of Rare Diseases 2013 8:157
  46. Fahr’s disease or Fahr’s syndrome is a rare, neurological disorder characterized by abnormal calcified deposits in basal ganglia and cerebral cortex. Calcified deposits are made up of calcium carbonate and cal...

    Authors: Shafaq Saleem, Hafiz Muhammad Aslam, Maheen Anwar, Shahzad Anwar, Maria Saleem, Anum Saleem and Muhammad Asim Khan Rehmani
    Citation: Orphanet Journal of Rare Diseases 2013 8:156
  47. Mucopolysaccharidosis type I (MPS-I) is a lysosomal storage disorder characterized by progressive multi-organ disease. The standard of care for patients with the severe phenotype (Hurler syndrome, MPS I-H) is ...

    Authors: Eveline J Langereis, Andrea Borgo, Ellen Crushell, Paul R Harmatz, Peter M van Hasselt, Simon A Jones, Paula M Kelly, Christina Lampe, Johanna H van der Lee, Thierry Odent, Ralph Sakkers, Maurizio Scarpa, Matthias U Schafroth, Peter A Struijs, Vassili Valayannopoulos, Klane K White…
    Citation: Orphanet Journal of Rare Diseases 2013 8:155