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  1. Hereditary transthyretin amyloid cardiomyopathy (ATTR-CM) is an increasingly recognized progressive cardiomyopathy with heterogenous clinical manifestations that lead to its misdiagnosis and poor prognosis. Th...

    Authors: Shan He, Zhuang Tian, Hongzhi Guan, Jian Li, Quan Fang and Shuyang Zhang

    Citation: Orphanet Journal of Rare Diseases 2019 14:251

    Content type: Research

    Published on:

  2. The phenotypic spectrum of many rare disorders is much wider than previously considered. Mucopolysaccharidosis type III (Sanfilippo syndrome, MPS III), is a lysosomal storage disorder traditionally considered ...

    Authors: Stephanie C. M. Nijmeijer, L. Ingeborg van den Born, Anneke J. A. Kievit, Karolina M. Stepien, Janneke Langendonk, Jan Pieter Marchal, Susanne Roosing, Frits A. Wijburg and Margreet A. E. M. Wagenmakers

    Citation: Orphanet Journal of Rare Diseases 2019 14:249

    Content type: Research

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  3. Inborn errors of metabolism (IEM) are a group of rare, heterogeneous and complex genetic conditions. Clinically, IEM often affect the central nervous system and other organs. Some carry the risk of progression...

    Authors: Nina A. Zeltner, Mendy M. Welsink-Karssies, Markus A. Landolt, Dominique Bosshard-Bullinger, Fabia Keller, Annet M. Bosch, Marike Groenendijk, Sarah C. Grünert, Daniela Karall, Beatrix Rettenbacher, Sabine Scholl-Bürgi, Matthias R. Baumgartner and Martina Huemer

    Citation: Orphanet Journal of Rare Diseases 2019 14:248

    Content type: Research

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  4. Acquired or genetic abnormalities of the complement alternative pathway are the primary cause of C3glomerulopathy(C3G) but may occur in immune-complex-mediated membranoproliferative glomerulonephritis (IC-MPGN...

    Authors: Nóra Garam, Zoltán Prohászka, Ágnes Szilágyi, Christof Aigner, Alice Schmidt, Martina Gaggl, Gere Sunder-Plassmann, Dóra Bajcsi, Jürgen Brunner, Alexandra Dumfarth, Daniel Cejka, Stefan Flaschberger, Hana Flögelova, Ágnes Haris, Ágnes Hartmann, Andreas Heilos…

    Citation: Orphanet Journal of Rare Diseases 2019 14:247

    Content type: Research

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  5. This study aims to test response inhibition in premanifest Huntington’s disease individuals (Pre-HD), in the context of a saccadic paradigm with working memory demands and fronto-executive load as a way to mea...

    Authors: Filipa Júlio, Gina Caetano, Cristina Januário and Miguel Castelo-Branco

    Citation: Orphanet Journal of Rare Diseases 2019 14:246

    Content type: Research

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  6. Differentiation between pancreatic cancer (PC) and focal form of autoimmune pancreatitis (AIP) is very challenging, with similar clinical presentations, laboratory results and morphologic imagings of US, CT, E...

    Authors: Gaopeng Li, Ting Liu, Jian Zheng, Wenqin Kang, Jun Xu, Zefeng Gao and Jinfeng Ma

    Citation: Orphanet Journal of Rare Diseases 2019 14:245

    Content type: Research

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  7. Wilson’s disease is an inherited autosomal recessive multi-systemic disorder characterized by reduced excretion and consequently excessive accumulation of copper in different organs, such as the heart.

    Authors: Kun Zhang, Ulrike Reuner, Marie Weidauer, Uwe Speiser, Karim Ibrahim, Marian Christoph, Frank R. Heinzel, Burkert Pieske, Felix M. Heidrich and Silvio Quick

    Citation: Orphanet Journal of Rare Diseases 2019 14:244

    Content type: Letter to the Editor

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  8. Barth syndrome (BTHS, OMIM 302060) is a rare, life-threatening, x-linked genetic disorder that occurs almost exclusively in males and is characterized by cardiomyopathy, neutropenia, skeletal muscle myopathy p...

    Authors: Iyar Mazar, Jonathan Stokes, Sarah Ollis, Emily Love, Ashlee Espensen, Peter G. Barth, John H. Powers III and Alan L. Shields

    Citation: Orphanet Journal of Rare Diseases 2019 14:243

    Content type: Research

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  9. Testicular adrenal rests tumor (TART) is a rare kind of benign tumor in the testis. It usually occurred secondary to congenital adrenal hyperplasia (CAH), a hormonal disorder caused by hydroxylase deficiency. ...

    Authors: Li Ma, Yu Xia, Linlin Wang, Ruifeng Liu, Xuepei Huang, Tiantian Ye, Li Zhang, Qingli Zhu, Jianchu Li and Yuxin Jiang

    Citation: Orphanet Journal of Rare Diseases 2019 14:242

    Content type: Research

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  10. Orphan medicinal products (OMPs) are intended for the diagnosis, prevention, management or treatment of rare diseases (RDs). Each RD affects only a small fraction of the population, and therefore, historically, i...

    Authors: Mohua Chakraborty Choudhury and Gayatri Saberwal

    Citation: Orphanet Journal of Rare Diseases 2019 14:241

    Content type: Research

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  11. Metachromatic leukodystrophy (MLD) is an autosomal recessively inherited metabolic disease characterized by deficient activity of the lysosomal enzyme arylsulfatase A. Its deficiency results in accumulation of...

    Authors: Shanice Beerepoot, Stefan Nierkens, Jaap Jan Boelens, Caroline Lindemans, Marianna Bugiani and Nicole I. Wolf

    Citation: Orphanet Journal of Rare Diseases 2019 14:240

    Content type: Review

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  12. The objective of this study is to describe variations in the healthcare resource utilization (HRU) among individuals with Angelman syndrome (AS) over the first 12 years of life. Data for this study were drawn ...

    Authors: Nasreen Khan, Raquel Cabo, Wen-Hann Tan, Regina Tayag and Lynne M. Bird

    Citation: Orphanet Journal of Rare Diseases 2019 14:239

    Content type: Research

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  13. In the last 20 years, substantial improvements have been made in the diagnosis, treatment and management of patients with Prader-Willi syndrome (PWS). Few data on causes of death are available since those impr...

    Authors: Dibia Liz Pacoricona Alfaro, Perrine Lemoine, Virginie Ehlinger, Catherine Molinas, Gwénaëlle Diene, Marion Valette, Graziella Pinto, Muriel Coupaye, Christine Poitou-Bernert, Denise Thuilleaux, Catherine Arnaud and Maithé Tauber

    Citation: Orphanet Journal of Rare Diseases 2019 14:238

    Content type: Research

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  14. Hirschsprung disease (HSCR) is an inherited congenital disorder characterized by the absence of enteric ganglia in the distal part of the gut. RET is the major causative gene and contains > 80% of all known disea...

    Authors: Qian Jiang, Yang Wang, Qi Li, Zhen Zhang, Ping Xiao, Hui Wang, Na Liu, Jian Wu, Feng Zhang, Aravinda Chakravarti, Wei Cai and Long Li

    Citation: Orphanet Journal of Rare Diseases 2019 14:237

    Content type: Research

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  15. Complex I (CI or NADH:ubiquinone oxidoreductase) deficiency is the most frequent cause of mitochondrial respiratory chain defect. Successful attempts to rescue CI function by introducing an exogenous NADH dehy...

    Authors: Alessia Catania, Arcangela Iuso, Juliette Bouchereau, Laura S. Kremer, Marina Paviolo, Caterina Terrile, Paule Bénit, Allan G. Rasmusson, Thomas Schwarzmayr, Valeria Tiranti, Pierre Rustin, Malgorzata Rak, Holger Prokisch and Manuel Schiff

    Citation: Orphanet Journal of Rare Diseases 2019 14:236

    Content type: Research

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  16. Von Hippel-Lindau (VHL) disease is a multi-systemic hereditary disease associated with several benign and malignant tumor entities, including clear cell renal cell carcinoma (ccRCC). Since ccRCCs grow slowly, ...

    Authors: Patrick Schuhmacher, Emily Kim, Felix Hahn, Peggy Sekula, Cordula Annette Jilg, Christian Leiber, Hartmut P. Neumann, Wolfgang Schultze-Seemann, Gerd Walz and Stefan Zschiedrich

    Citation: Orphanet Journal of Rare Diseases 2019 14:235

    Content type: Research

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  17. Neutral lipid storage disease with myopathy (NLSDM) is a rare clinical heterogeneous disorder caused by mutations in the patatin-like phospholipase domain-containing 2 (PNPLA2) gene. NLSDM usually presents ske...

    Authors: Wei Zhang, Bing Wen, Jun Lu, Yawen Zhao, Daojun Hong, Zhe Zhao, Cheng Zhang, Yuebei Luo, Xueliang Qi, Yingshuang Zhang, Xueqin Song, Yuying Zhao, Chongbo Zhao, Jing Hu, Huan Yang, Zhaoxia Wang…

    Citation: Orphanet Journal of Rare Diseases 2019 14:234

    Content type: Research

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  18. It is estimated that at present there are over 10 million rare disease patients in China. Recently an increased focus from policy perspective has been placed on rare diseases management. Improved disease defin...

    Authors: Xiaoshu Cai, Hui Yang, Georgi Z. Genchev, Hui Lu and Guangjun Yu

    Citation: Orphanet Journal of Rare Diseases 2019 14:233

    Content type: Research

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  19. Angelman syndrome (AS) is a neurodevelopmental disorder that is caused by maternal genetic deficiency of a gene that encodes E6-AP ubiquitin-protein ligase (gene symbol UBE3A) mapping to chromosome 15q11-q13. AS ...

    Authors: Julia Han, Terry Jo Bichell, Stephanie Golden, Irina Anselm, Susan Waisbren, Carlos A. Bacino, Sarika U. Peters, Lynne M. Bird and Virginia Kimonis

    Citation: Orphanet Journal of Rare Diseases 2019 14:232

    Content type: Research

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  20. PMM2-CDG (Phosphomannomutase 2 - Congenital disorder of glycosylation-Ia; CDG-Ia) is the most common glycosylation defect, often presenting as a severe multisystem disorder that can be fatal within the first y...

    Authors: Sarah C. Grünert, Thorsten Marquardt, Ekkehart Lausch, Hans Fuchs, Christian Thiel, Martin Sutter, Anke Schumann, Luciana Hannibal and Ute Spiekerkoetter

    Citation: Orphanet Journal of Rare Diseases 2019 14:231

    Content type: Research

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  21. A preliminary exploratory study shows solid agreement between the results of case reports and clinical study meta-analyses in mucopolysaccharidosis Type I (MPS-I) adult patients. The aim of the present study i...

    Authors: Miguel Sampayo-Cordero, Bernat Miguel-Huguet, Almudena Pardo-Mateos, Andrea Malfettone, José Pérez-García, Antonio Llombart-Cussac, Javier Cortés, Marc Moltó-Abad, Cecilia Muñoz-Delgado, Marta Pérez-Quintana and Jordi Pérez-López

    Citation: Orphanet Journal of Rare Diseases 2019 14:230

    Content type: Research

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  22. Pneumothorax may recur during pulmonary Langerhans cell histiocytosis (PLCH) patients’ follow-up and its management is not standardised. The factors associated with pneumothorax recurrence are unknown.

    Authors: Pierre Le Guen, Sylvie Chevret, Emmanuelle Bugnet, Constance de Margerie-Mellon, Gwenaël Lorillon, Agathe Seguin-Givelet, Fanélie Jouenne, Dominique Gossot, Robert Vassallo and Abdellatif Tazi

    Citation: Orphanet Journal of Rare Diseases 2019 14:229

    Content type: Research

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  23. Niemann-Pick Disease Type C (NPC) is an inherited, often fatal neurovisceral lysosomal storage disease characterized by cholesterol accumulation in every cell with few known treatments. Defects in cholesterol ...

    Authors: Caroline Hastings, Camilo Vieira, Benny Liu, Cyrus Bascon, Claire Gao, Raymond Y. Wang, Alicia Casey and Sharon Hrynkow

    Citation: Orphanet Journal of Rare Diseases 2019 14:228

    Content type: Research

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  24. As human T-cell leukemia virus type 1 (HTLV-1)-associated myelopathy/tropical spastic paraparesis (HAM/TSP) is a rare chronic neurological disease, large scale studies to collect continuous clinical data have ...

    Authors: Shuntaro Tsutsumi, Tomoo Sato, Naoko Yagishita, Junji Yamauchi, Natsumi Araya, Daisuke Hasegawa, Misako Nagasaka, Ariella L. G. Coler-Reilly, Eisuke Inoue, Ayako Takata and Yoshihisa Yamano

    Citation: Orphanet Journal of Rare Diseases 2019 14:227

    Content type: Research

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  25. Patients with the metabolic disorder classical galactosemia suffer from long-term complications despite a galactose-restricted diet, including a below average intelligence level. The aim of the current review ...

    Authors: Merel E. Hermans, Mendy M. Welsink-Karssies, Annet M. Bosch, Kim J. Oostrom and Gert J. Geurtsen

    Citation: Orphanet Journal of Rare Diseases 2019 14:226

    Content type: Review

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  26. The number of available therapies for rare diseases remains low, as fewer than 6% of rare diseases have an approved treatment option. The International Rare Diseases Research Consortium (IRDiRC) set up the mul...

    Authors: Noel T Southall, Madhusudan Natarajan, Lilian Pek Lian Lau, Anneliene Hechtelt Jonker, Benoît Deprez, Tim Guilliams, Lawrence Hunter, Carin MA Rademaker, Virginie Hivert and Diego Ardigò

    Citation: Orphanet Journal of Rare Diseases 2019 14:225

    Content type: Position statement

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  27. Birt-Hogg-Dubé syndrome (BHDS) is an autosomal dominant disease featured by lung cysts, spontaneous pneumothorax, fibrofolliculomas and renal tumors. The causative gene for BHDS is the folliculin (FLCN) gene and ...

    Authors: Keqiang Liu, Wenshuai Xu, Xinlun Tian, Meng Xiao, Xinyue Zhao, Qianli Zhang, Tao Qu, Jiaxing Song, Yaping Liu, Kai-Feng Xu and Xue Zhang

    Citation: Orphanet Journal of Rare Diseases 2019 14:223

    Content type: Research

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  28. Trimethylaminuria (TMAU) is a metabolic disorder characterized by the excessive excretion of the malodorous compound trimethylamine (TMA). The diagnosis of TMAU is challenging because this disorder is situated...

    Authors: Nadia Bouchemal, Lisa Ouss, Anaïs Brassier, Valérie Barbier, Stéphanie Gobin, Laurence Hubert, Pascale de Lonlay and Laurence Le Moyec

    Citation: Orphanet Journal of Rare Diseases 2019 14:222

    Content type: Research

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  29. Congenital pseudarthrosis of the tibia (CPT) is a rare disease. Some patients present neurofibromatosis type 1 (NF1), while some others do not manifest NF1 (non-NF1). The etiology of CPT, particularly non-NF1 ...

    Authors: Guanghui Zhu, Yu Zheng, Yaoxi Liu, An Yan, Zhengmao Hu, Yongjia Yang, Shiting Xiang, Liping Li, Weijian Chen, Yu Peng, Nanbert Zhong and Haibo Mei

    Citation: Orphanet Journal of Rare Diseases 2019 14:221

    Content type: Research

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  30. A wide range of rare diseases can have fiscal impacts on government finances that extend beyond expected healthcare costs. Conditions preventing people from achieving national lifetime work averages will influ...

    Authors: Mark P. Connolly, Saswat Panda, Julien Patris and Bouke P. C. Hazenberg

    Citation: Orphanet Journal of Rare Diseases 2019 14:220

    Content type: Research

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  31. Osteogenesis imperfecta (OI) is a rare disease leading to hereditary bone fragility. Nearly 90% of cases are caused by mutations in the collagen genes COL1A1/A2 (classical OI) leading to multiple fractures, scoli...

    Authors: Heike Hoyer-Kuhn, Mirko Rehberg, Christian Netzer, Eckhard Schoenau and Oliver Semler

    Citation: Orphanet Journal of Rare Diseases 2019 14:219

    Content type: Research

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  32. Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome, is a rare genetic disorder that is transmitted in an autosomal dominant manner with complete penetrance and variable expressivity. It is ...

    Authors: Antonietta Moramarco, Ehud Himmelblau, Emanuele Miraglia, Fabiana Mallone, Vincenzo Roberti, Federica Franzone, Chiara Iacovino, Sandra Giustini and Alessandro Lambiase

    Citation: Orphanet Journal of Rare Diseases 2019 14:218

    Content type: Research

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  33. Men with the hereditary peroxisomal disorder X-linked adrenoleukodystrophy (ALD) are at risk of developing inflammatory demyelinating lesions in the brain. In the absence of inflammatory (post-contrast enhanci...

    Authors: Noortje J. M. L. Buermans, Sharon J. G. van den Bosch, Irene C. Huffnagel, Marjan E. Steenweg, Marc Engelen, Kim J. Oostrom and Gert J. Geurtsen

    Citation: Orphanet Journal of Rare Diseases 2019 14:217

    Content type: Research

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  34. Prader-Willi syndrome (PWS) is a rare complex genetic disorder and is characterized by short stature, muscular hypotonia, abnormal body composition, psychomotor retardation, and hyperphagia. Recombinant human ...

    Authors: Aram Yang, Jin-Ho Choi, Young Bae Sohn, Yunae Eom, Jiyoon Lee, Han-Wook Yoo and Dong-Kyu Jin

    Citation: Orphanet Journal of Rare Diseases 2019 14:216

    Content type: Research

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  35. Kaposiform lymphangiomatosis (KLA) has recently been distinguished as a novel subtype of generalized lymphatic anomaly (GLA) with foci of spindle endothelial cells. All cases of KLA involve multiple organs and...

    Authors: Michio Ozeki, Yoko Aoki, Akifumi Nozawa, Shiho Yasue, Saori Endo, Yumiko Hori, Kentaro Matsuoka, Tetsuya Niihori, Ryo Funayama, Matsuyuki Shirota, Keiko Nakayama and Toshiyuki Fukao

    Citation: Orphanet Journal of Rare Diseases 2019 14:215

    Content type: Research

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  36. The dysfunction of OPA1, a dynamin GTPase involved in mitochondrial fusion, is responsible for a large spectrum of neurological disorders, each of which includes optic neuropathy. The database dedicated to OPA1 (

    Authors: Bastien Le Roux, Guy Lenaers, Xavier Zanlonghi, Patrizia Amati-Bonneau, Floris Chabrun, Thomas Foulonneau, Angélique Caignard, Stéphanie Leruez, Philippe Gohier, Vincent Procaccio, Dan Milea, Johan T. den Dunnen, Pascal Reynier and Marc Ferré

    Citation: Orphanet Journal of Rare Diseases 2019 14:214

    Content type: Research

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  37. Patients with Phenylketonuria (PKU) are exposed to multiple cardiovascular risk factors, but the clinical significance of these abnormalities is yet unknown. The purpose of this study was to characterize the c...

    Authors: Aline Azabdaftari, Markus van der Giet, Mirjam Schuchardt, Julia B. Hennermann, Ursula Plöckinger and Uwe Querfeld

    Citation: Orphanet Journal of Rare Diseases 2019 14:213

    Content type: Research

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  38. Gaucher disease is an inherited lysosomal storage disorder of which there are three subtypes. Type 1 disease has no neurological involvement and is treatable with enzyme replacement therapy. Type 2 disease res...

    Authors: Aimee Donald, Huseyin Cizer, Niamh Finnegan, Tanya Collin-Histed, Derralynn A. Hughes and Elin Haf Davies

    Citation: Orphanet Journal of Rare Diseases 2019 14:212

    Content type: Research

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  39. Haemophilia A is a hereditary bleeding disorder, which has been considered rare and chronic. The burden of this disease in Portugal remains unknown. The aim of this study was to estimate the annualized cost an...

    Authors: Andreia Café, Manuela Carvalho, Miguel Crato, Miguel Faria, Paula Kjollerstrom, Cristina Oliveira, Patrícia R. Pinto, Ramón Salvado, Alexandra Aires dos Santos and Catarina Silva

    Citation: Orphanet Journal of Rare Diseases 2019 14:211

    Content type: Research

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  40. Hereditary hemorrhagic telangiectasia (HHT) is a rare vascular dysplasia resulting in visceral arteriovenous malformations and smaller mucocutaneous telangiectasia. Most patients experience recurrent nosebleed...

    Authors: C. L. Shovlin, C. M. Millar, F. Droege, A. Kjeldsen, G. Manfredi, P. Suppressa, S. Ugolini, N. Coote, A. D. Fialla, U. Geisthoff, G. M. Lenato, H. J. Mager, F. Pagella, M. C. Post, C. Sabbà, U. Sure…

    Citation: Orphanet Journal of Rare Diseases 2019 14:210

    Content type: Research

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  41. Hyaline fibromatosis syndrome (HFS) is a rare clinical condition in which bi-allelic variants in ANTXR2 are associated with extracellular hyaline deposits. It manifests as multiple skin nodules, patchy hyperpigme...

    Authors: Claudia Cozma, Marina Hovakimyan, Marius-Ionuț Iurașcu, Nawal Makhseed, Laila A. Selim, Amal M. Alhashem, Tawfeg Ben-Omran, Iman G. Mahmoud, Nihal M. Al Menabawy, Mariam Al-Mureikhi, Magi Martin, Laura Demuth, Zafer Yüksel, Christian Beetz, Peter Bauer and Arndt Rolfs

    Citation: Orphanet Journal of Rare Diseases 2019 14:209

    Content type: Research

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  42. Hyperornithinemia–hyperammonemia–homocitrullinuria (HHH) syndrome is a rare disorder of urea cycle characterized by progressive pyramidal and cerebellar dysfunction, whose pathophysiology is not yet fully unde...

    Authors: Giorgia Olivieri, Stefano Pro, Daria Diodato, Matteo Di Capua, Daniela Longo, Diego Martinelli, Enrico Bertini and Carlo Dionisi-Vici

    Citation: Orphanet Journal of Rare Diseases 2019 14:208

    Content type: Research

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  43. Segmental schwannomatosis is characterized by multiple schwannomas affecting one-limb or less than 5 contiguous segments of spine. Its characteristics are not well described in the literature. Our objective wa...

    Authors: Abdulqader Alaidarous, Beatrice Parfait, Salah Ferkal, Joëlle Cohen, Pierre Wolkenstein and Juliette Mazereeuw-Hautier

    Citation: Orphanet Journal of Rare Diseases 2019 14:207

    Content type: Research

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  44. Sirolimus has been confirmed to be effective for lymphangioleiomyomatosis (LAM), a rare multisystem neoplastic disease in women. The long-term effects of sirolimus treatment for LAM, however, are largely unkno...

    Authors: Siqi Hu, Xiuxiu Wu, Wenshuai Xu, Xinlun Tian, Yanli Yang, Shao-Ting Wang, Song Liu, Xingxiang Xu and Kai-Feng Xu

    Citation: Orphanet Journal of Rare Diseases 2019 14:206

    Content type: Research

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  45. Clinical care guidelines are typically developed by clinicians and researchers. Including patient and caregiver voices in guideline development may help create guidelines that are more useful for patients and ...

    Authors: Brian Denger, Kathi Kinnett, Ann Martin, Sean Grant, Courtney Armstrong and Dmitry Khodyakov

    Citation: Orphanet Journal of Rare Diseases 2019 14:205

    Content type: Research

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  46. Rare diseases are one of the major challenges in the era of precision medicine and reflect the social security level of minority groups. This study aimed to investigate healthcare service utilization and healt...

    Authors: Rui Min, Xiaoyan Zhang, Pengqian Fang, Biyan Wang and He Wang

    Citation: Orphanet Journal of Rare Diseases 2019 14:204

    Content type: Research

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  47. The incidence, prevalence, and molecular epidemiology of urea cycle disorders (UCDs) in Argentina remain underexplored. The present study is the first to thoroughly assess the clinical and molecular profiles o...

    Authors: Silene M. Silvera-Ruiz, José A. Arranz, Johannes Häberle, Celia J. Angaroni, Miriam Bezard, Norberto Guelbert, Adriana Becerra, Fernanda Peralta, Raquel Dodelson de Kremer and Laura E. Laróvere

    Citation: Orphanet Journal of Rare Diseases 2019 14:203

    Content type: Research

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  48. Hypophosphatasia (HPP) is a rare, inherited, metabolic bone disease caused by deficient tissue-non-specific isoenzyme of alkaline phosphatase activity that manifests as a broad range of signs/symptoms, includi...

    Authors: Eric T. Rush, Scott Moseley and Anna Petryk

    Citation: Orphanet Journal of Rare Diseases 2019 14:201

    Content type: Research

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