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  1. In Canada, reimbursement recommendations on drugs for common and rare diseases are overseen by the Canadian Agency for Drugs and Technologies in Health (CADTH) and made through the pan-Canadian Oncology Drug R...

    Authors: Fernanda Naomi Inagaki Nagase, Tania Stafinski, Jian Sun, Gian Jhangri and Devidas Menon

    Citation: Orphanet Journal of Rare Diseases 2019 14:127

    Content type: Research

    Published on:

  2. Patient and public involvement for co-creation is increasingly recognized as a valuable strategy to develop healthcare research targeting patients’ real needs. However, its practical implementation is not as a...

    Authors: Anna Ambrosini, Ros Quinlivan, Valeria A. Sansone, Ingeborg Meijer, Guus Schrijvers, Aad Tibben, George Padberg, Maarten de Wit, Ellen Sterrenburg, Alexandre Mejat, Alexandra Breukel, Michal Rataj, Hanns Lochmüller and Raffaella Willmann

    Citation: Orphanet Journal of Rare Diseases 2019 14:126

    Content type: Research

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  3. Childhood uveitis is a collection of chronic rare inflammatory eye disorders which result in visual loss in at least one eye of one fifth of affected children. Despite the introduction of novel systemic immuno...

    Authors: Ameenat L. Solebo, Robert J. Barry, Pearse A. Keane, Jugnoo S. Rahi and Alastair K. Denniston

    Citation: Orphanet Journal of Rare Diseases 2019 14:125

    Content type: Review

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  4. Rare diseases affecting the teeth, the oral cavity and the face are numerous, each of them present specific characteristics, and is a life-long condition. The aim of the study was to assess the association bet...

    Authors: Lisa Friedlander, Ariane Berdal, Priscilla Boizeau, Brigitte Alliot Licht, Marie-Cécile Manière, Arnaud Picard, Olivier Azzis, Marie-Paule Vazquez, Corinne Alberti and Muriel De La Dure Molla

    Citation: Orphanet Journal of Rare Diseases 2019 14:124

    Content type: Research

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  5. The clinical heterogeneity of the 22q11.2 Deletion Syndrome (22q11.2DS – OMIM, #188400 and #192430) is a universal challenge leading to diagnostic delay. The aim of this study was to evaluate a low cost strate...

    Authors: Ilária Cristina Sgardioli, Fabíola Paoli Monteiro, Paulo Fanti, Társis Paiva Vieira and Vera Lúcia Gil-da-Silva-Lopes

    Citation: Orphanet Journal of Rare Diseases 2019 14:123

    Content type: Research

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  6. The relevance of registries as a key component for developing clinical research for rare diseases (RD) and improving patient care has been acknowledged by most stakeholders. As recent studies pointed to severa...

    Authors: Marie De Antonio, Céline Dogan, Ferroudja Daidj, Bruno Eymard, Jack Puymirat, Jean Mathieu, Cynthia Gagnon, Sandrine Katsahian, Dalil Hamroun and Guillaume Bassez

    Citation: Orphanet Journal of Rare Diseases 2019 14:122

    Content type: Research

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  7. Williams Beuren syndrome (WBS) is a multiple malformations/intellectual disability (ID) syndrome caused by 7q11.23 microdeletion and clinically characterized by a typical neurocognitive profile including exces...

    Authors: Julie Masson, Caroline Demily, Nicolas Chatron, Audrey Labalme, Pierre-Antoine Rollat-Farnier, Caroline Schluth-Bolard, Brigitte Gilbert-Dussardier, Fabienne Giuliano, Renaud Touraine, Sylvie Tordjman, Alain Verloes, Giuseppe Testa, Damien Sanlaville, Patrick Edery, Gaetan Lesca and Massimiliano Rossi

    Citation: Orphanet Journal of Rare Diseases 2019 14:121

    Content type: Letter to the Editor

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  8. Sickle cell disease (SCD) is an inherited red blood cell disorder caused by a structural abnormality of hemoglobin called sickle hemoglobin (HbS). Clinical manifestations of SCD are mainly characterized by chr...

    Authors: Giovanna Russo, Lucia De Franceschi, Raffaella Colombatti, Paolo Rigano, Silverio Perrotta, Vincenzo Voi, Giovanni Palazzi, Carmelo Fidone, Alessandra Quota, Giovanna Graziadei, Antonello Pietrangelo, Valeria Pinto, Giovan Battista Ruffo, Francesco Sorrentino, Donatella Venturelli, Maddalena Casale…

    Citation: Orphanet Journal of Rare Diseases 2019 14:120

    Content type: Review

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  9. MetabERN is one of the 24 European Reference Networks created according to the European Union directive 2011/24/EU on patient’s rights in cross border healthcare. MetabERN associates 69 centres in 18 countries...

    Authors: Jean-Michel Heard, Cinzia Bellettato, Corine van Lingen and Maurizio Scarpa

    Citation: Orphanet Journal of Rare Diseases 2019 14:119

    Content type: Research

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  10. Mucopolysaccharidosis (MPS) VI or Maroteaux-Lamy syndrome (253200) is an autosomal recessive lysosomal storage disorder caused by deficiency in N-acetylgalactosamine-4-sulfatase (arylsulfatase B). The heterogenei...

    Authors: Mehmet Umut Akyol, Tord D. Alden, Hernan Amartino, Jane Ashworth, Kumar Belani, Kenneth I. Berger, Andrea Borgo, Elizabeth Braunlin, Yoshikatsu Eto, Jeffrey I. Gold, Andrea Jester, Simon A. Jones, Cengiz Karsli, William Mackenzie, Diane Ruschel Marinho, Andrew McFadyen…

    Citation: Orphanet Journal of Rare Diseases 2019 14:118

    Content type: Research

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  12. Hereditary transthyretin amyloidosis (ATTRv amyloidosis) is caused by a variant transthyretin (TTR), which is a serum protein secreted by the liver. Mass spectrometry (MS) is a useful tool that can detect vari...

    Authors: Toshiya Nomura, Mitsuharu Ueda, Masayoshi Tasaki, Yohei Misumi, Teruaki Masuda, Yasuteru Inoue, Yukimoto Tsuda, Masamitsu Okada, Takahiro Okazaki, Kyosuke Kanenawa, Aito Isoguchi, Makoto Nakamura, Konen Obayashi, Satoru Shinriki, Hirotaka Matsui, Taro Yamashita…

    Citation: Orphanet Journal of Rare Diseases 2019 14:116

    Content type: Research

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  13. Linear IgA bullous dermatosis (LABD) is a rare autoimmune subepithelial vesiculobullous disease due to IgA autoantibodies directed against different antigens of the basement membrane zone (BMZ) of the skin and...

    Authors: Giovanni Genovese, Luigia Venegoni, Daniele Fanoni, Simona Muratori, Emilio Berti and Angelo Valerio Marzano

    Citation: Orphanet Journal of Rare Diseases 2019 14:115

    Content type: Research

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  14. Current diagnostic tests for hereditary spherocytosis (HS) focus on the detection of hemolysis or indirectly assessing defects of membrane protein, whereas direct methods to detect protein defects are complica...

    Authors: Hyoung Soo Choi, Qute Choi, Jung-Ah Kim, Kyong Ok Im, Si Nae Park, Yoomi Park, Hee Young Shin, Hyoung Jin Kang, Hoon Kook, Seon Young Kim, Soo-Jeong Kim, Inho Kim, Ji Yoon Kim, Hawk Kim, Kyung Duk Park, Kyung Bae Park…

    Citation: Orphanet Journal of Rare Diseases 2019 14:114

    Content type: Research

    Published on:

  15. The original version of this article [1] unfortunately included an error to an author’s name. Author Maja Di Rocco was erroneously presented as Maja DiRocco.

    Authors: Robert J. Pignolo, Geneviève Baujat, Matthew A. Brown, Carmen De Cunto, Maja Di Rocco, Edward C. Hsiao, Richard Keen, Mona Al Mukaddam, Kim-Hanh Le Quan Sang, Amy Wilson, Barbara White, Donna R. Grogan and Frederick S. Kaplan

    Citation: Orphanet Journal of Rare Diseases 2019 14:113

    Content type: Correction

    Published on:

    The original article was published in Orphanet Journal of Rare Diseases 2019 14:98

  16. Chanarin-Dorfman syndrome (CDS) is a rare syndromic disease related to an accumulation of triacylglycerol in most organs. The aim of our study was to investigate various organs in a large series of CDS patients.

    Authors: Nacim Louhichi, Emna Bahloul, Slaheddine Marrakchi, Houda Ben Othman, Chahnez Triki, Kawthar Aloulou, Lobna Trabelsi, Nadia Mahfouth, Zeineb Ayadi-Mnif, Leila Keskes, Faiza Fakhfakh and Hamida Turki

    Citation: Orphanet Journal of Rare Diseases 2019 14:112

    Content type: Research

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  18. Linear scleroderma “en coup de sabre” (LSES) variant is a cephalic subtype of localized scleroderma that can be associated with extracutaneous stigmata, such as epilepsy, dementia syndromes, as well as focal c...

    Authors: Cynthia M. Magro, Pierre Halteh, Luke C. Olson, Ilya Kister and Lee Shapiro

    Citation: Orphanet Journal of Rare Diseases 2019 14:110

    Content type: Letter to the Editor

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  19. The importance of late-onset cobalamin C (cblC) disorder is underestimated in adults. Improved awareness on its clinical and neuroimaging features helps timely diagnosis and appropriate treatment.

    Authors: Xianling Wang, Yanhui Yang, Xuying Li, Cunjiang Li and Chaodong Wang

    Citation: Orphanet Journal of Rare Diseases 2019 14:109

    Content type: Research

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  20. The objectives of this study were to delineate the clinical-epidemiological profile of patients with neuropathic pain (NP) in the groups of SCD patients, from each of the three questionnaires used DN-4, painDE...

    Authors: Fabricio Dias Antunes, Cidson Leonardo Silva Junior, Karine Santos Cerqueira, Maira do Livramento Faro and Rosana Cipolotti

    Citation: Orphanet Journal of Rare Diseases 2019 14:108

    Content type: Research

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  21. Following the publication of this article [1], the authors informed us of a typographical error in the spelling of “ePET-Dacron®” in the Background section. The sentence to be corrected is the following: “Whil...

    Authors: Ahmed Mousa, Ibrahim Hanbal, Alaa Sharabi, Mohammed A. Nasr, Abdelfattah K. Nassar and Mai A. Elkalla

    Citation: Orphanet Journal of Rare Diseases 2019 14:107

    Content type: Correction

    Published on:

    The original article was published in Orphanet Journal of Rare Diseases 2019 14:81

  22. .

    Authors: Daniel Ebrahimi-Fakhari, Lilian Lisa Mann, Martin Poryo, Norbert Graf, Rüdiger von Kries, Beate Heinrich, Darius Ebrahimi-Fakhari, Marina Flotats-Bastardas, Ludwig Gortner, Michael Zemlin and Sascha Meyer

    Citation: Orphanet Journal of Rare Diseases 2019 14:106

    Content type: Correction

    Published on:

    The original article was published in Orphanet Journal of Rare Diseases 2018 13:117

  23. X-linked Duchenne muscular dystrophy (DMD), the most frequent human hereditary skeletal muscle myopathy, inevitably leads to progressive dilated cardiomyopathy. We assessed the effect and safety of a combined ...

    Authors: Sven Dittrich, Erika Graf, Regina Trollmann, Ulrich Neudorf, Ulrike Schara, Antje Heilmann, Maja von der Hagen, Brigitte Stiller, Janbernd Kirschner, Robert Dalla Pozza, Wolfgang Müller-Felber, Katja Weiss, Katja von Au, Markus Khalil, Reinald Motz, Christoph Korenke…

    Citation: Orphanet Journal of Rare Diseases 2019 14:105

    Content type: Research

    Published on:

  24. After publication of this article [1], it is noticed reference no. 17 was incorrectly provided, details are shown below.

    Authors: James F. H. Pittaway, Christopher Harrison, Yumie Rhee, Muriel Holder-Espinasse, Alan E. Fryer, Tim Cundy, William M. Drake and Melita D. Irving

    Citation: Orphanet Journal of Rare Diseases 2019 14:104

    Content type: Correction

    Published on:

    The original article was published in Orphanet Journal of Rare Diseases 2018 13:47

  25. Gaucher disease (GD) is caused by deficiency of beta-glucocerebrosidase (GCase) due to biallelic variations in the GBA1 gene. Parkinson’s disease (PD) is the second most common neurodegenerative condition. The cl...

    Authors: Matheus V. M. B. Wilke, Alícia D. Dornelles, Artur S. Schuh, Filippo P. Vairo, Suelen P. Basgalupp, Marina Siebert, Tatiele Nalin, Otavio B. Piltcher and Ida V. D. Schwartz

    Citation: Orphanet Journal of Rare Diseases 2019 14:103

    Content type: Research

    Published on:

  26. Several gene therapy trials for Duchenne muscular dystrophy initiated in 2018. Trial decision making is complicated by non-curative, time-limited benefits; the progressive, fatal course; and high unmet needs. ...

    Authors: Ryan S. Paquin, Ryan Fischer, Carol Mansfield, Brennan Mange, Katherine Beaverson, Annie Ganot, Amy Strong Martin, Carl Morris, Colin Rensch, Valeria Ricotti, Leo J. Russo, Alesia Sadosky, Edward C. Smith and Holly L. Peay

    Citation: Orphanet Journal of Rare Diseases 2019 14:102

    Content type: Research

    Published on:

  27. Chediak-Higashi Disease (CHD) is a rare autosomal disorder, purported to have cognitive and neurological impairments. Prior descriptions of cognitive impairment, however, are solely based on subjective, unstru...

    Authors: Talia N. Shirazi, Joseph Snow, Lillian Ham, Greta B. Raglan, Edythe A. Wiggs, Angela C. Summers, Camilo Toro and Wendy J. Introne

    Citation: Orphanet Journal of Rare Diseases 2019 14:101

    Content type: Research

    Published on:

  28. TK2 gene encodes for mitochondrial thymidine kinase, which phosphorylates the pyrimidine nucleosides thymidine and deoxycytidine. Recessive mutations in the TK2 gene are responsible for the ‘myopathic form’ of...

    Authors: Cristina Domínguez-González, Aurelio Hernández-Laín, Eloy Rivas, Ana Hernández-Voth, Javier Sayas Catalán, Roberto Fernández-Torrón, Carmen Fuiza-Luces, Jorge García García, Germán Morís, Montse Olivé, Frances Miralles, Jordi Díaz-Manera, Candela Caballero, Bosco Méndez-Ferrer, Ramon Martí, Elena García Arumi…

    Citation: Orphanet Journal of Rare Diseases 2019 14:100

    Content type: Research

    Published on:

  29. Late and misdiagnoses of rare disease patients are common and often result in medical, physical and mental burden for the patient, and financial and emotional burden for the patient’s family. Low rare disease ...

    Authors: Liese Vandeborne, Eline van Overbeeke, Marc Dooms, Birgit De Beleyr and Isabelle Huys

    Citation: Orphanet Journal of Rare Diseases 2019 14:99

    Content type: Research

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  30. Fibrodysplasia Ossificans Progressiva (FOP; OMIM#135100) is an ultra-rare, severely disabling genetic disease characterized by congenital malformation of the great toes and progressive heterotopic ossification...

    Authors: Robert J. Pignolo, Geneviève Baujat, Matthew A. Brown, Carmen De Cunto, Maja Di Rocco, Edward C. Hsiao, Richard Keen, Mona Al Mukaddam, Kim-Hanh Le Quan Sang, Amy Wilson, Barbara White, Donna R. Grogan and Frederick S. Kaplan

    Citation: Orphanet Journal of Rare Diseases 2019 14:98

    Content type: Research

    Published on:

    The Correction to this article has been published in Orphanet Journal of Rare Diseases 2019 14:113

  31. Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal instability disorder that leads to aneuploidies of different chromosomes in various tissues. Type 1 MVA (MVA1) is caused by mutations in the budding...

    Authors: Alexandra Laberko, Dmitry Balashov, Elena Deripapa, Olga Soldatkina, Elena Raikina, Alexei Maschan, Galina Novichkova and Anna Shcherbina

    Citation: Orphanet Journal of Rare Diseases 2019 14:97

    Content type: Research

    Published on:

  32. Tuberous sclerosis complex (TSC) is a multisystem disease with prominent neurologic manifestations such as epilepsy, cognitive impairment and autism spectrum disorder. mTOR inhibitors have successfully been us...

    Authors: Afshin Saffari, Ines Brösse, Adelheid Wiemer-Kruel, Bernd Wilken, Paula Kreuzaler, Andreas Hahn, Matthias K. Bernhard, Cornelis M. van Tilburg, Georg F. Hoffmann, Matthias Gorenflo, Sven Hethey, Olaf Kaiser, Stefan Kölker, Robert Wagner, Olaf Witt, Andreas Merkenschlager…

    Citation: Orphanet Journal of Rare Diseases 2019 14:96

    Content type: Research

    Published on:

  33. The primary objective of this study was to compare the availability and access of orphan medicinal products (OMPs) in the devolved nations in the United Kingdom (UK), France, Germany, Italy and Spain. Availabi...

    Authors: Bernarda Zamora, Francois Maignen, Phill O’Neill, Jorge Mestre-Ferrandiz and Martina Garau

    Citation: Orphanet Journal of Rare Diseases 2019 14:95

    Content type: Research

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  34. Neurofibromatosis Type 1 (NF1) is a common genetic neurocutaneous disease, with an autosomal dominant inheritance mode. Quality of life has been shown impaired in NF1, due to severe complications, cosmetic fea...

    Authors: Marie-Laure Armand, Charles Taieb, Aline Bourgeois, Mireille Bourlier, Mohammed Bennani, Christine Bodemer and Pierre Wolkenstein

    Citation: Orphanet Journal of Rare Diseases 2019 14:94

    Content type: Research

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  35. Mucopolysaccharidosis (MPS) type III (Sanfilippo syndrome) comprises a group of rare, lysosomal storage diseases caused by the deficiency of one of four enzymes involved in the degradation of heparan sulfate. ...

    Authors: Nicole M. Muschol, Daniel Pape, Kai Kossow, Kurt Ullrich, Laila Arash-Kaps, Julia B. Hennermann, Ralf Stücker and Sandra R. Breyer

    Citation: Orphanet Journal of Rare Diseases 2019 14:93

    Content type: Research

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  36. Inherited ichthyoses belong to a large and heterogeneous group of mendelian disorders of cornification, and can be distinguished by the quality and distribution of scaling and hyperkeratosis, by other dermatol...

    Authors: Romana Borská, Blanka Pinková, Kamila Réblová, Hana Bučková, Lenka Kopečková, Jitka Němečková, Alena Puchmajerová, Marcela Malíková, Markéta Hermanová and Lenka Fajkusová

    Citation: Orphanet Journal of Rare Diseases 2019 14:92

    Content type: Letter to the Editor

    Published on:

  37. Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disorder associated with mutations in TSC1 and TSC2 genes, upregulation of mammalian target of rapamycin signaling, and subsequent tumor forma...

    Authors: Stéphane Auvin, John J. Bissler, Vincent Cottin, Ayataka Fujimoto, Günther F. L. Hofbauer, Anna C. Jansen, Sergiusz Jóźwiak, Larissa Kerecuk, J. Christopher Kingswood, Romina Moavero, Roser Torra and Vicente Villanueva

    Citation: Orphanet Journal of Rare Diseases 2019 14:91

    Content type: Research

    Published on:

  38. Autonomous ovarian activation with recurrent estrogen-producing cysts is a hallmark feature of the rare bone and endocrine disorder fibrous dysplasia/McCune-Albright syndrome. Precocious puberty in girls with ...

    Authors: Alison M. Boyce, Rachel K. Casey, Diana Ovejero Crespo, Cynthia M. Murdock, Andrea Estrada, Lori C. Guthrie, Beth A. Brillante, Veronica Gomez-Lobo, Lynette K. Nieman and Michael T. Collins

    Citation: Orphanet Journal of Rare Diseases 2019 14:90

    Content type: Research article

    Published on:

  39. Metachromatic leukodystrophy (MLD) is a rare, autosomal recessive lysosomal storage disease caused by deficient activity of arylsulfatase A. Neurological involvement results in severe disability and premature ...

    Authors: Magdalena Harrington, Diane Whalley, James Twiss, Rebecca Rushton, Susan Martin, Lynn Huynh and Hongbo Yang

    Citation: Orphanet Journal of Rare Diseases 2019 14:89

    Content type: Research

    Published on:

  40. The Clinical features of vascular Behcet’s disease (BD) are not well understood because there are few studies. Our study aimed to investigate characteristics of vascular BD in both genders in different age gro...

    Authors: Yong Chen, Jian-Fei Cai, Chen-Hong Lin and Jian-Long Guan

    Citation: Orphanet Journal of Rare Diseases 2019 14:88

    Content type: Research

    Published on:

  41. Glanzmann thrombasthenia (GT) is a rare autosomal recessive abnormality of platelet aggregation with quantitative and/or qualitative abnormality of αIIbβ3 integrin. The αIIbβ3 is a platelet fibrinogen receptor...

    Authors: F. Zafarghandi Motlagh, M. S. Fallah, H. Bagherian, T. Shirzadeh, S. Ghasri, S. Dabbagh, M. Jamali, Z. Salehi, M. Abiri and S. Zeinali

    Citation: Orphanet Journal of Rare Diseases 2019 14:87

    Content type: Research

    Published on:

  42. Classic galactosemia is a rare inborn error of carbohydrate metabolism, caused by a severe deficiency of the enzyme galactose-1-phosphate uridylyltransferase (GALT). A galactose-restricted diet has proven to b...

    Authors: M. E. Rubio-Gozalbo, M. Haskovic, A. M. Bosch, B. Burnyte, A. I. Coelho, D. Cassiman, M. L. Couce, C. Dawson, D. Demirbas, T. Derks, F. Eyskens, M. T. Forga, S. Grunewald, J. Häberle, M. Hochuli, A. Hubert…

    Citation: Orphanet Journal of Rare Diseases 2019 14:86

    Content type: Research

    Published on:

  43. Hypophosphatasia (HPP) is a rare, inherited, metabolic disease caused by tissue-nonspecific alkaline phosphatase deficiency, characterized by bone mineralization defects and systemic complications. Understandi...

    Authors: Shelagh M. Szabo, Ioannis C. Tomazos, Anna Petryk, Lauren C. Powell, Bonnie M. K. Donato, Yuri A. Zarate, Anatoly Tiulpakov and Gabriel Ángel Martos-Moreno

    Citation: Orphanet Journal of Rare Diseases 2019 14:85

    Content type: Research

    Published on:

  44. Methylmalonic acidemia/aciduria (MMA) is a genetically heterogeneous group of inherited metabolic disorders biochemically characterized by the accumulation of methylmalonic acid. Isolated MMA is primarily caus...

    Authors: Tímea Almási, Lin T. Guey, Christine Lukacs, Kata Csetneki, Zoltán Vokó and Tamás Zelei

    Citation: Orphanet Journal of Rare Diseases 2019 14:84

    Content type: Review

    Published on:

  45. Hereditary spastic paraplegias (HSP) are of great clinical and genetic heterogeneity. According to the clinical features, HSP can be divided into pure or complicated subtypes which combined with other neurolog...

    Authors: Fang Peng, Yi-Min Sun, Chao Quan, Jian Wang and Jian-Jun Wu

    Citation: Orphanet Journal of Rare Diseases 2019 14:83

    Content type: Research

    Published on:

  46. Telomeres are nucleoprotein structures present at the terminal region of the chromosomes. Mutations in genes coding for proteins involved in telomere maintenance are causative of a number of disorders known as...

    Authors: Elena G. Arias-Salgado, Eva Galvez, Lurdes Planas-Cerezales, Laura Pintado-Berninches, Elena Vallespin, Pilar Martinez, Jaime Carrillo, Laura Iarriccio, Anna Ruiz-Llobet, Albert Catalá, Isabel Badell-Serra, Luis I. Gonzalez-Granado, Andrea Martín-Nalda, Mónica Martínez-Gallo, Ana Galera-Miñarro, Carmen Rodríguez-Vigil…

    Citation: Orphanet Journal of Rare Diseases 2019 14:82

    Content type: Research

    Published on:

  47. This study was conducted to evaluate our local experiences of adjunctive mechanical prosthetic wrapping for aortoiliac vascular anastomoses as a prophylactic measure following surgical repair of Behçet’s aorto...

    Authors: Ahmed Mousa, Ibrahim Hanbal, Alaa Sharabi, Mohammed A. Nasr, Abdelfattah K. Nassar and Mai A. Elkalla

    Citation: Orphanet Journal of Rare Diseases 2019 14:81

    Content type: Research

    Published on:

    The Correction to this article has been published in Orphanet Journal of Rare Diseases 2019 14:107

  48. Neonatal manifestation of life-threatening hyperammonemic encephalopathy in urea cycle disorders (UCD) is often misdiagnosed as neonatal sepsis, resulting in significantly delayed start of specific treatment a...

    Authors: Ulrike Teufel, Peter Burgard, Jochen Meyburg, Martin Lindner, Johannes Poeschl, Peter Ruef, Georg F. Hoffmann and Stefan Kölker

    Citation: Orphanet Journal of Rare Diseases 2019 14:80

    Content type: Research

    Published on:

  49. Tetralogy of Fallot (TOF) is the most frequent cyanotic congenital heart defect. TOF mortality has fallen remarkably in recent years due to therapeutic advances. Accordingly, the aim of this study was to asses...

    Authors: Laura Llamosas-Falcón, Eva Bermejo-Sánchez, Germán Sánchez-Díaz, Ana Villaverde-Hueso, Manuel Posada de la Paz and Verónica Alonso-Ferreira

    Citation: Orphanet Journal of Rare Diseases 2019 14:79

    Content type: Research

    Published on:

  50. Discussions continue as to whether ventricular septal defects are best categorized according to their right ventricular geography or their borders. This is especially true when considering the perimembranous d...

    Authors: Justin T. Tretter, Vi-Hue Tran, Seth Gray, Hieu Ta, Rohit S. Loomba, William O’Connor, Diane E. Spicer, Andrew C. Cook and Robert H. Anderson

    Citation: Orphanet Journal of Rare Diseases 2019 14:76

    Content type: Research

    Published on:

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172