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Page 5 of 45

  1. In 2009 the European Commission called for National action plans (NAP) to improve the care for persons with rare diseases. Germany set up a NAP in 2013 suggesting a three-tiered structure of co-operating cente...

    Authors: U. Plöckinger and A. Ziagaki

    Citation: Orphanet Journal of Rare Diseases 2019 14:158

    Content type: Position statement

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  2. Orphan medicines show some characteristics that hinder the evaluation of their clinical added value. The often low level of evidence available for orphan drugs, together with a high budget impact and an increm...

    Authors: Laura Guarga, Xavier Badia, Mercè Obach, Manel Fontanet, Alba Prat, Atonio Vallano, Josep Torrent and Caridad Pontes

    Citation: Orphanet Journal of Rare Diseases 2019 14:157

    Content type: Research

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  3. Familial digital arthropathy-brachydactyly (FDAB) and Thiemann disease are non-inflammatory digital arthropathies with many phenotypic similarities. Thirty-three cases of Thiemann disease have been described s...

    Authors: Nadirah Damseh, Jennifer Stimec, Alan O’Brien, Christian Marshall, Ravi Savarirayan, Ali Jawad, Ronald Laxer and Peter Kannu

    Citation: Orphanet Journal of Rare Diseases 2019 14:156

    Content type: Review

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  4. Sporadic inclusion body myositis (sIBM) is the most prevalent muscle disease in elderly people, affecting the daily activities. sIBM is progressive with unknown cause and without effective treatment. In 2015, ...

    Authors: Naoki Suzuki, Madoka Mori-Yoshimura, Satoshi Yamashita, Satoshi Nakano, Ken-ya Murata, Megumi Mori, Yukie Inamori, Naoko Matsui, En Kimura, Hirofumi Kusaka, Tomoyoshi Kondo, Hidefumi Ito, Itsuro Higuchi, Akihiro Hashiguchi, Hiroyuki Nodera, Ryuji Kaji…

    Citation: Orphanet Journal of Rare Diseases 2019 14:155

    Content type: Research

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  5. Decision makers have huge problems when attempting to attribute social value to the improvements achieved by new drugs, especially when considering the use of orphan drugs for rare diseases. We present the res...

    Authors: Julio López-Bastida, Juan Manuel Ramos-Goñi, Isaac Aranda-Reneo, Domenica Taruscio, Armando Magrelli and Panos Kanavos

    Citation: Orphanet Journal of Rare Diseases 2019 14:154

    Content type: Research

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  6. The practice of genomic medicine stands to revolutionize our approach to medical care, and to realize this goal will require discovery of the relationship between rare variation at each of the ~ 20,000 protein...

    Authors: Jennifer E. Posey

    Citation: Orphanet Journal of Rare Diseases 2019 14:153

    Content type: Review

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  7. Estimation of incidence in rare diseases is often challenging due to unspecific and incomplete coding and recording systems. Patient- and health care provider-driven data collections are held with different or...

    Authors: Kirsten König, Astrid Pechmann, Simone Thiele, Maggie C. Walter, David Schorling, Adrian Tassoni, Hanns Lochmüller, Clemens Müller-Reible and Janbernd Kirschner

    Citation: Orphanet Journal of Rare Diseases 2019 14:152

    Content type: Research

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  8. Schnitzler’s syndrome is an auto-inflammatory disorder which is characterized by two mandatory features: an urticarial rash and a monoclonal gammopathy. Although the pathophysiology of this syndrome is not yet...

    Authors: FS van Leersum, J Potjewijd, M van Geel, PM Steijlen and M Vreeburg

    Citation: Orphanet Journal of Rare Diseases 2019 14:151

    Content type: Letter to the Editor

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  9. The vision loss in Leber hereditary optic neuropathy patients is due to mitochondrial DNA mutations. No treatment has shown a clear-cut benefit on a clinically meaningful end-point. However, clinical evidences...

    Authors: Sonia Emperador, Ester López-Gallardo, Carmen Hernández-Ainsa, Mouna Habbane, Julio Montoya, M. Pilar Bayona-Bafaluy and Eduardo Ruiz-Pesini

    Citation: Orphanet Journal of Rare Diseases 2019 14:150

    Content type: Research

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  10. Lafora disease (LD) is a rare, lethal, progressive myoclonus epilepsy for which no targeted therapy is currently available. Studies on a mouse model of LD showed a good response to metformin, a drug with a wel...

    Authors: Francesca Bisulli, Lorenzo Muccioli, Giuseppe d’Orsi, Laura Canafoglia, Elena Freri, Laura Licchetta, Barbara Mostacci, Patrizia Riguzzi, Federica Pondrelli, Carlo Avolio, Tommaso Martino, Roberto Michelucci and Paolo Tinuper

    Citation: Orphanet Journal of Rare Diseases 2019 14:149

    Content type: Letter to the Editor

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  11. Satoyoshi syndrome is a multisystemic rare disease of unknown etiology, although an autoimmune basis is presumed. Its main symptoms are: painful muscle spasms, diarrhea, alopecia and skeletal abnormalities. Cl...

    Authors: Julián Solís-García del Pozo, Carlos de Cabo and Javier Solera

    Citation: Orphanet Journal of Rare Diseases 2019 14:146

    Content type: Review

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  12. Individuals diagnosed with a rare genetic disease that affects skeletal development often have physical limitations and orofacial problems that exert an impact on oral health. The aim of the present study was ...

    Authors: Heloisa Vieira Prado, Natália Cristina Ruy Carneiro, Matheus França Perazzo, Mauro Henrique Nogueira Guimarães de Abreu, Carolina de Castro Martins and Ana Cristina Borges-Oliveira

    Citation: Orphanet Journal of Rare Diseases 2019 14:145

    Content type: Research

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  13. Floating-Harbor syndrome (FHS) is a rare syndromic short stature disorder caused by truncating variants in SRCAP. Few Chinese FHS patients had been reported so far and limited knowledge regarding the benefit of g...

    Authors: Shujie Zhang, Shaoke Chen, Haisong Qin, Haiming Yuan, Yalei Pi, Yu Yang, Hui Huang, Guimei Li, Yan Sun, Zhihua Wang, Huamei Ma, Xiaoling Fu, Ting Zhou, Jian Wang, Huifeng Zhang and Yiping Shen

    Citation: Orphanet Journal of Rare Diseases 2019 14:144

    Content type: Research

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  14. Mucopolysaccharidosis IVA (MPS IVA) is an autosomal recessive lysosomal storage disease due to N-acetylgalactosamine-6-sulfatase (GALNS) deficiency. It results in accumulation of the glycosaminoglycans, kerata...

    Authors: Huey Yin Leong, Nor Azimah Abdul Azize, Hui Bein Chew, Wee Teik Keng, Meow Keong Thong, Mohd Khairul Nizam Mohd Khalid, Liang Choo Hung, Norzila Mohamed Zainudin, Azura Ramlee, Muzhirah Aisha Md Haniffa, Yusnita Yakob and Lock Hock Ngu

    Citation: Orphanet Journal of Rare Diseases 2019 14:143

    Content type: Research

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  15. Primary Ciliary Dyskinesia (PCD) diagnosis relies on a combination of tests which may include (a) nasal Nitric Oxide (nNO), (b) High Speed Video Microscopy (HSVM) and (c) Transmission Electron Microscopy (TEM)...

    Authors: Panayiotis Kouis, Stefania I. Papatheodorou, Nicos Middleton, George Giallouros, Kyriacos Kyriacou, Joshua T. Cohen, John S. Evans and Panayiotis K. Yiallouros

    Citation: Orphanet Journal of Rare Diseases 2019 14:142

    Content type: Research

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  16. Lymphatic anomalies (LAs) include several disorders in which abnormal lymphatic tissue invades the neck, chest, and various organs. Progressive cases may result in lethal outcomes and have proven difficult to ...

    Authors: Michio Ozeki, Akifumi Nozawa, Shiho Yasue, Saori Endo, Ryuta Asada, Hiroya Hashimoto and Toshiyuki Fukao

    Citation: Orphanet Journal of Rare Diseases 2019 14:141

    Content type: Research

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  17. 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 sulfate. Cardiac abnormalities have been ...

    Authors: Hsiang-Yu Lin, Ming-Ren Chen, Shan-Miao Lin, Chung-Lieh Hung, Dau-Ming Niu, Tung-Ming Chang, Chih-Kuang Chuang and Shuan-Pei Lin

    Citation: Orphanet Journal of Rare Diseases 2019 14:140

    Content type: Research

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  18. Fibrous Dysplasia / McCune Albright syndrome (FD/MAS) represents a wide spectrum of diseases due to somatic gain-of-function mutations of the GNAS gene. The mutation leads to overactivity in the target tissues an...

    Authors: Muhammad Kassim Javaid, Alison Boyce, Natasha Appelman-Dijkstra, Juling Ong, Patrizia Defabianis, Amaka Offiah, Paul Arundel, Nick Shaw, Valter Dal Pos, Ann Underhil, Deanna Portero, Lisa Heral, Anne-Marie Heegaard, Laura Masi, Fergal Monsell, Robert Stanton…

    Citation: Orphanet Journal of Rare Diseases 2019 14:139

    Content type: Position statement

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    The Correction to this article has been published in Orphanet Journal of Rare Diseases 2019 14:267

  19. Proteoglycans are large and structurally complex macromolecules which can be found in abundancy in the extracellular matrix and on the surface of all animal cells. Mutations in the genes encoding the enzymes r...

    Authors: Marlies Colman, Tim Van Damme, Elisabeth Steichen-Gersdorf, Franco Laccone, Sheela Nampoothiri, Delfien Syx, Brecht Guillemyn, Sofie Symoens and Fransiska Malfait

    Citation: Orphanet Journal of Rare Diseases 2019 14:138

    Content type: Research

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  20. Mucopolysaccharidosis (MPS) IVA or Morquio A syndrome is an autosomal recessive lysosomal storage disorder (LSD) caused by deficiency of the N-acetylgalactosamine-6-sulfatase (GALNS) enzyme, which impairs lysosom...

    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 14:137

    Content type: Research

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  21. Metachromatic Leukodystrophy (MLD) is a rare autosomal-recessive lysosomal storage disorder caused by mutations in the ARSA gene. While interventional trials often use untreated siblings as controls, the genotype...

    Authors: Saskia Elgün, Jakob Waibel, Christiane Kehrer, Diane van Rappard, Judith Böhringer, Stefanie Beck-Wödl, Jennifer Just, Ludger Schöls, Nicole Wolf, Ingeborg Krägeloh-Mann and Samuel Groeschel

    Citation: Orphanet Journal of Rare Diseases 2019 14:136

    Content type: Research

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  22. Skeletal muscle wasting is a hallmark of Huntington’s disease (HD). However, data on myocellular characteristics and myofiber remodeling in HD patients are scarce. We aimed at gaining insights into myocellular...

    Authors: Sandro Manuel Mueller, Violeta Mihaylova, Sebastian Frese, Jens A. Petersen, Maria Ligon-Auer, David Aguayo, Martin Flück, Hans H. Jung and Marco Toigo

    Citation: Orphanet Journal of Rare Diseases 2019 14:135

    Content type: Letter to the Editor

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  23. Triglyceride deposit cardiomyovasculopathy (TGCV) is a phenotype primarily reported in patients carrying genetic mutations in PNPLA2 encoding adipose triglyceride lipase (ATGL) which releases long chain fatty aci...

    Authors: Ming Li, Ken-ichi Hirano, Yoshihiko Ikeda, Masahiro Higashi, Chikako Hashimoto, Bo Zhang, Junji Kozawa, Koichiro Sugimura, Hideyuki Miyauchi, Akira Suzuki, Yasuhiro Hara, Atsuko Takagi, Yasuyuki Ikeda, Kazuhiro Kobayashi, Yoshiaki Futsukaichi, Nobuhiro Zaima…

    Citation: Orphanet Journal of Rare Diseases 2019 14:134

    Content type: Letter to the Editor

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  24. Epidermolysis Bullosa (EB) is a group of rare genetic disorders resulting in skin fragility and other symptoms. Commissioned by DEBRA International and funded by DEBRA Norway, this evidence-bases guideline pro...

    Authors: K. Martin, S. Geuens, J. K. Asche, R. Bodan, F. Browne, A. Downe, N. García García, G. Jaega, B. Kennedy, P. J. Mauritz, F. Pérez, K. Soon, V. Zmazek and K. M. Mayre-Chilton

    Citation: Orphanet Journal of Rare Diseases 2019 14:133

    Content type: Review

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  25. Behcet’s disease (BD)-related aortic regurgitation (AR) is known to be associated with paravalvular leakage (PVL) after successful aortic valve (AV) surgery. This study aimed to determine predictors of PVL aft...

    Authors: Hong-Mi Choi, Hyung-Kwan Kim, Sung-Ji Park, Hyun-Jung Lee, Yeonyee E. Yoon, Jun-Bean Park, Yong-Jin Kim, Goo-Young Cho, In-Chang Hwang, Dae-Won Sohn and Jae K. Oh

    Citation: Orphanet Journal of Rare Diseases 2019 14:132

    Content type: Research

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  26. Hereditary hemorrhagic teleangectasia (HHT, or Rendu-Osler-Weber disease) is a rare inherited syndrome, characterized by arterio-venous malformations (AVMs or Telangiectasia). The most important and common man...

    Authors: Annalisa Tortora, Maria Elena Riccioni, Eleonora Gaetani, Veronica Ojetti, Grainne Holleran and Antonio Gasbarrini

    Citation: Orphanet Journal of Rare Diseases 2019 14:130

    Content type: Review

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  27. The purpose of this article is to summarize the Dystrophic Epidermolysis Bullosa Research Association (DEBRA) International evidence-based Clinical Practice Guidelines (CPGs) for the provision of occupational ...

    Authors: Jennifer M. Chan, Amy Weisman, Alex King, Susan Maksomski, Carrissa Shotwell, Claire Bailie, Helen Weaver, Rebecca Bodan, Estrella Guerrero, Matija Zmazek and Phuong Khuu

    Citation: Orphanet Journal of Rare Diseases 2019 14:129

    Content type: Review

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  28. Eliglustat is a first-line oral treatment for adults with Gaucher disease type 1 who have an extensive, intermediate or poor CYP2D6 metabolizer phenotype (> 90% of patients). Whereas enzyme replacement therapy...

    Authors: M. Judith Peterschmitt, Selena Freisens, Lisa H. Underhill, Meredith C. Foster, Grace Lewis and Sebastiaan J. M. Gaemers

    Citation: Orphanet Journal of Rare Diseases 2019 14:128

    Content type: Research

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  29. 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

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  30. 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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  31. 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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  32. 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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  33. 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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  34. 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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  35. 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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  36. 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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  37. 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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  38. 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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  39. 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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  40. 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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  41. 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

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  42. 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

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

  43. 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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  44. 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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  45. 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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