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  1. Although metreleptin replacement therapy was shown to improve metabolic alterations in lipodystrophic syndromes, patients’ adherence and satisfaction with treatment have never been evaluated. The 20 patients w...

    Authors: Camille Vatier, Dina Kalbasi, Marie-Christine Vantyghem, Olivier Lascols, Isabelle Jéru, Anne Daguenel, Jean-François Gautier, Marion Buyse and Corinne Vigouroux

    Citation: Orphanet Journal of Rare Diseases 2019 14:177

    Content type: Research

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  2. Within the 21 APEC economies alone, there are an estimated 200 million individuals living with a rare disease. As such, health data on these individuals, and hence patient registries, are vital. However, regis...

    Authors: Matthew I. Bellgard, Tom Snelling and James M. McGree

    Citation: Orphanet Journal of Rare Diseases 2019 14:176

    Content type: Position statement

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  3. The needs and benefits of sharing health data to advance scientific research and improve clinical benefits have been well documented in recent years, specifically in the field of rare diseases where knowledge ...

    Authors: Sandra Courbier, Rebecca Dimond and Virginie Bros-Facer

    Citation: Orphanet Journal of Rare Diseases 2019 14:175

    Content type: Research

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  4. Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive neurodegenerative disorder with brain iron accumulation (NBIA).

    Authors: Randall D. Marshall, Abigail Collins, Maria L. Escolar, H. A. Jinnah, Thomas Klopstock, Michael C. Kruer, Aleksandar Videnovic, Amy Robichaux-Viehoever, Colleen Burns, Laura L. Swett, Dennis A. Revicki, Randall H. Bender and William R. Lenderking

    Citation: Orphanet Journal of Rare Diseases 2019 14:174

    Content type: Research

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  5. Castleman disease (CD) describes a group of rare and poorly understood lymphoproliferative disorders that include unicentric CD (UCD), Human Herpes Virus-8 (HHV8)-associated multicentric CD (HHV8 + MCD), and H...

    Authors: Alexander Suarez, Curran Reilly and David C. Fajgenbaum

    Citation: Orphanet Journal of Rare Diseases 2019 14:173

    Content type: Research

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  6. According to rough estimates, there are approximately 150,000 rare disease patients in Slovenia (out of a total population of 2 million). Despite the absence of accurate epidemiological data on their status, t...

    Authors: Dalibor Stanimirovic, Eva Murko, Tadej Battelino and Urh Groselj

    Citation: Orphanet Journal of Rare Diseases 2019 14:172

    Content type: Research

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  7. Hereditary hemochromatosis (HH) is a genetic disorder that causes excess absorption of iron and can lead to a variety of complications including liver cirrhosis, arthritis, abnormal skin pigmentation, cardiomy...

    Authors: Xiaomu Kong, Lingding Xie, Haiqing Zhu, Lulu Song, Xiaoyan Xing, Wenying Yang and Xiaoping Chen

    Citation: Orphanet Journal of Rare Diseases 2019 14:171

    Content type: Review

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  8. Identification of Fabry disease (FD) in cardiac patients has been restricted so far to patients with left ventricular hypertrophy. Conduction problems are frequent in FD and could precede other manifestations,...

    Authors: Ángela López-Sainz, Vicente Climent, Tomas Ripoll-Vera, Maria Angeles Espinosa, Roberto Barriales-Villa, Marina Navarro, Javier Limeres, Diana Domingo, David C. Kasper and Pablo Garcia-Pavia

    Citation: Orphanet Journal of Rare Diseases 2019 14:170

    Content type: Letter to the Editor

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  9. The European Reference Network for rare liver diseases (ERN RARE-LIVER) is a Europe-wide network of paediatric and adult hepatologists from expert centres in close collaboration with patient advocates from the...

    Authors: Lucas H. P. Bernts, David E. J. Jones, Marleen M. Kaatee, Ansgar W. Lohse, Christoph Schramm, Ekkehard Sturm and Joost P. H. Drenth

    Citation: Orphanet Journal of Rare Diseases 2019 14:169

    Content type: Position statement

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  10. Sanfilippo syndrome type B (Sanfilippo B) belongs to a group of rare lysosomal storage diseases characterized by progressive cognitive decline from an early age, acute hyperactivity, and concomitant somatic sy...

    Authors: Elsa Shapiro, Charles Marques Lourenço, Neslihan Onenli Mungan, Nicole Muschol, Cara O’Neill and Suresh Vijayaraghavan

    Citation: Orphanet Journal of Rare Diseases 2019 14:168

    Content type: Research

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  11. Wilson disease (WD) is a genetic disorder involving impaired copper metabolism, which presents with hepatic, neurological, and/or psychiatric manifestations. WD requires lifelong pharmacotherapy and treatment ...

    Authors: Wojciech Maselbas, Tomasz Litwin and Anna Czlonkowska

    Citation: Orphanet Journal of Rare Diseases 2019 14:167

    Content type: Research

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  12. No study to date has followed disease progression in patients with neurofibromatosis type 1 (NF1), including the incidence of various manifestations, using a national registry. Here we examined the state of NF...

    Authors: Takashi Yamauchi, Machi Suka, Chikako Nishigori and Hiroyuki Yanagisawa

    Citation: Orphanet Journal of Rare Diseases 2019 14:166

    Content type: Research

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  13. Kaposiform lymphangiomatosis (KLA) and kaposiform hemangioendothelioma (KHE) are rare and aggressive vascular disorders. The aim of this study was to examine the clinical features and prognosis of KLA and KHE ...

    Authors: Yi Ji, Siyuan Chen, Suhua Peng, Chunchao Xia and Li Li

    Citation: Orphanet Journal of Rare Diseases 2019 14:165

    Content type: Research

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  14. High resolution genome-wide copy number analysis, routinely used in clinical diagnosis for several years, retrieves new and extremely rare copy number variations (CNVs) that provide novel candidate genes contr...

    Authors: Fátima Lopes, Fátima Torres, Gabriela Soares, Mafalda Barbosa, João Silva, Frederico Duque, Miguel Rocha, Joaquim Sá, Guiomar Oliveira, Maria João Sá, Teresa Temudo, Susana Sousa, Carla Marques, Sofia Lopes, Catarina Gomes, Gisela Barros…

    Citation: Orphanet Journal of Rare Diseases 2019 14:164

    Content type: Research

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  15. The concomitant occurrence of hypertrophic cardiomyopathy and congenital heart defect in patients with RASopathies has previously been reported as associated to a worse clinical outcome, particularly closed to...

    Authors: Giulio Calcagni, Maria Cristina Digilio, Bruno Marino and Marco Tartaglia

    Citation: Orphanet Journal of Rare Diseases 2019 14:163

    Content type: Letter to the Editor

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  16. Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutaneous albinism and platelet dysfunction and can sometimes lead to a highly aggressive form of pulmonary fibrosis...

    Authors: Ross Summer, Rachana Krishna, DeLeila Schriner, Karina Cuevas-Mora, Dominic Sales, Rachel Para, Jesse Roman, Carl Nieweld, Bernadette R. Gochuico and Freddy Romero

    Citation: Orphanet Journal of Rare Diseases 2019 14:162

    Content type: Research

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  17. Niemann-Pick disease Type C (NP-C) is a lysosomal lipid storage disorder with varying symptomatology depending on the age of onset. The diagnosis of NP-C is challenging due to heterogeneous nonspecific clinica...

    Authors: Mercedes Pineda, Katarína Juríčková, Parvaneh Karimzadeh, Miriam Kolniková, Věra Malinová, Juan Torres and Stefan A. Kolb

    Citation: Orphanet Journal of Rare Diseases 2019 14:161

    Content type: Research

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  18. There are many public health issues to resolve regarding rare diseases, including a lack of data from large-scale studies. The objective of this study was to explore fundamental data for a list of rare disease...

    Authors: Xinmiao Shi, Hui Liu, Siyan Zhan, Zhaoxia Wang, Lin Wang, Chongya Dong, Yanfang Wang, Chen Yao, Jie Ding and Yan Li

    Citation: Orphanet Journal of Rare Diseases 2019 14:160

    Content type: Research

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  19. Given the inherent complexity of rare paediatric diseases and the sensitive emotional context of the situations they create (due to the patients’ age and the tense uncertainty surrounding the progression of th...

    Authors: Beni Gómez-Zúñiga, Rafael Pulido Moyano, Modesta Pousada Fernández, Alicia García Oliva and Manuel Armayones Ruiz

    Citation: Orphanet Journal of Rare Diseases 2019 14:159

    Content type: Research

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  20. 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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  21. 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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  22. 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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  23. 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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  24. 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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  25. 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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  26. 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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  27. 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

    Published on:

  28. 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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  29. 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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  32. 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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  33. 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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  34. 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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  35. 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

    Published on:

  36. 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

    Published on:

  37. 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

    Published on:

  38. 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

    Published on:

  39. 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

    Published on:

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

  40. 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

    Published on:

  41. 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

    Published on:

  42. 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

    Published on:

  43. 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

    Published on:

  44. 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

    Published on:

  45. 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

    Published on:

  46. 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

    Published on:

  48. 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

    Published on:

  49. 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

    Published on:

  50. 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

    Published on:

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172