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  1. Content type: Research

    Choroideremia (CHM) is a rare X-linked recessive retinal dystrophy characterized by progressive chorioretinal degeneration in the males affected. The symptoms include night blindness in childhood, progressive ...

    Authors: Anna Skorczyk-Werner, Anna Wawrocka, Natalia Kochalska and Maciej Robert Krawczynski

    Citation: Orphanet Journal of Rare Diseases 2018 13:221

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  2. Content type: Research

    Pulmonary Arterial Hypertension (PAH) is a chronic rare disease that can lead to serious cardiovascular problems and death. Additional treatments that increase effectiveness, that are safe and with a convenien...

    Authors: Alberto Jiménez, Arantza Ais, Amélie Beaudet and Alicia Gil

    Citation: Orphanet Journal of Rare Diseases 2018 13:220

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  3. Content type: Review

    The ‘classic’ organic acidaemias (OAs) (propionic, methylmalonic and isovaleric) typically present in neonates or infants as acute metabolic decompensation with encephalopathy. This is frequently accompanied b...

    Authors: Johannes Häberle, Anupam Chakrapani, Nicholas Ah Mew and Nicola Longo

    Citation: Orphanet Journal of Rare Diseases 2018 13:219

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  4. Content type: Research

    Facioscapulohumeral muscular dystrophy is a rare inherited neuromuscular disease with an estimated prevalence of 1/20,000 and France therefore harbors about 3000 FSHD patients. With research progress and the d...

    Authors: Céline Guien, Gaëlle Blandin, Pauline Lahaut, Benoît Sanson, Katia Nehal, Sitraka Rabarimeriarijaona, Rafaëlle Bernard, Nicolas Lévy, Sabrina Sacconi and Christophe Béroud

    Citation: Orphanet Journal of Rare Diseases 2018 13:218

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  5. Content type: Review

    To study the present treatment situation and investigate a better orthodontic approach for patients with cleidocranial dysplasia (CCD) through systematically reviewing the published cases and to conclude the s...

    Authors: Yanfei Zhu, Yin Zou, Qian Yu, Huijun Sun, Sixuan Mou, Shuhua Xu and Min Zhu

    Citation: Orphanet Journal of Rare Diseases 2018 13:217

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  6. Content type: Research

    Infantile spasms represent the catastrophic, age-specific seizure type associated with acute and long-term neurological morbidity. However, due to rarity and heterogenous determination, there is persistent unc...

    Authors: Jason L. Jia, Shiyi Chen, Vishalini Sivarajah, Derek Stephens and Miguel A. Cortez

    Citation: Orphanet Journal of Rare Diseases 2018 13:216

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  7. Content type: Research

    Evaluation of evidence for efficacy of orphan medicinal products (OMPs) for rare malignancies may be hampered by the use of tumor measurements instead of clinical endpoints. This may cause efficacy data to not...

    Authors: Yvonne Schuller, Marieke Biegstraaten, Carla E. M. Hollak, Heinz-Josef Klümpen, Christine C. Gispen-de Wied and Violeta Stoyanova-Beninska

    Citation: Orphanet Journal of Rare Diseases 2018 13:214

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  8. Content type: Review

    Health-related Quality of Life (HrQoL) is a multidimensional measure, which has gained clinical and social relevance. Implementation of a patient-centred approach to both clinical research and care settings, h...

    Authors: Carlota Pascoal, Sandra Brasil, Rita Francisco, Dorinda Marques-da-Silva, Agnes Rafalko, Jaak Jaeken, Paula A. Videira, Luísa Barros and Vanessa dos Reis Ferreira

    Citation: Orphanet Journal of Rare Diseases 2018 13:215

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  9. Content type: Research

    Classic galactosemia is a rare genetic metabolic disease with an unmet treatment need. Current standard of care fails to prevent chronically-debilitating brain and gonadal complications.

    Authors: Minela Haskovic, Britt Derks, Liesbeth van der Ploeg, Jorn Trommelen, Jean Nyakayiru, Luc J. C. van Loon, Sabrina Mackinnon, Wyatt W. Yue, Roy W. A. Peake, Li Zha, Didem Demirbas, Wanshu Qi, Xiaoping Huang, Gerard T. Berry, Jelle Achten, Jörgen Bierau…

    Citation: Orphanet Journal of Rare Diseases 2018 13:212

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  10. Content type: Research

    Netherton syndrome (NS) is a rare life-threatening syndrome caused by SPINK5 mutations leading to a skin barrier defect and a severe atopic diathesis. NS patients are prone to bacterial infections, but the unders...

    Authors: Elina Eränkö, Mette Ilander, Mirja Tuomiranta, Antti Mäkitie, Tea Lassila, Anna Kreutzman, Paula Klemetti, Satu Mustjoki, Katariina Hannula-Jouppi and Annamari Ranki

    Citation: Orphanet Journal of Rare Diseases 2018 13:213

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  11. Content type: Research

    Congenital myasthenic syndromes (CMS) are a heterogeneous group of inherited neuromuscular disorders sharing the common feature of fatigable weakness due to defective neuromuscular transmission. Despite rapidl...

    Authors: Rachel Thompson, Angela Abicht, David Beeson, Andrew G. Engel, Bruno Eymard, Emmanuel Maxime and Hanns Lochmüller

    Citation: Orphanet Journal of Rare Diseases 2018 13:211

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  12. Content type: Research

    Mitochondrial disease (MD) is a heterogeneous group of disorders characterized by impaired energy production caused by abnormal oxidative phosphorylation. Diagnosis of MD is challenging given the variability i...

    Authors: Bruce Cohen, Cristy Balcells, Brian Hotchkiss, Kavita Aggarwal and Amel Karaa

    Citation: Orphanet Journal of Rare Diseases 2018 13:210

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  13. Content type: Research

    Carpal tunnel syndrome (CTS) is a common complication of the mucopolysaccharidoses. In severe or attenuated mucopolysaccharidoses patients, clinical symptoms of CTS usually appear at a late stage of median ner...

    Authors: Kim Maincent, Bénédicte Héron, Thierry Billette de Villemeur and Michèle Mayer

    Citation: Orphanet Journal of Rare Diseases 2018 13:209

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  14. Content type: Research

    There is now an international partnership to establish global programs for patients with rare and undiagnosed diseases, involving interdisciplinary expert panels and phenotype-driven genetic analyses utilizing...

    Authors: Takeya Adachi, Noriaki Imanishi, Yasushi Ogawa, Yoshihiko Furusawa, Yoshihiko Izumida, Yoko Izumi and Makoto Suematsu

    Citation: Orphanet Journal of Rare Diseases 2018 13:208

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  15. Content type: Research

    Patients with cartilage-hair hypoplasia (CHH), a rare metaphyseal chondrodysplasia, manifest severe growth failure, variable immunodeficiency and increased risk of malignancies. The impact of CHH on gynecologi...

    Authors: Elina Holopainen, Svetlana Vakkilainen and Outi Mäkitie

    Citation: Orphanet Journal of Rare Diseases 2018 13:207

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  16. Content type: Research

    To assess uncertainty in regulatory decision-making for orphan medicinal products (OMP), a summary of the current basis for approval is required; a systematic grouping of medical conditions may be useful in su...

    Authors: Caridad Pontes, Juan Manuel Fontanet, Roser Vives, Aranzazu Sancho, Mònica Gómez-Valent, José Ríos, Rosa Morros, Jorge Martinalbo, Martin Posch, Armin Koch, Kit Roes, Katrien Oude Rengerink, Josep Torrent-Farnell and Ferran Torres

    Citation: Orphanet Journal of Rare Diseases 2018 13:206

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  17. Content type: Research

    Multiple endocrine neoplasia (MEN1) is a rare inherited multi-tumour syndrome, affecting specific neuroendocrine organs and non-endocrine tissues with a variable spectrum of over 20 possible different combinat...

    Authors: Francesca Marini, Francesca Giusti and Maria Luisa Brandi

    Citation: Orphanet Journal of Rare Diseases 2018 13:205

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  18. Content type: Research

    Lymphangioleiomyomatosis is a rare disease caused by unregulated activation of mammalian target of rapamycin (mTOR) signalling pathway. Sirolimus showed efficacy in a phase 3 trial of patients with lymphangiol...

    Authors: Hee-Young Yoon, Jung Jin Hwang, Dong Soon Kim and Jin Woo Song

    Citation: Orphanet Journal of Rare Diseases 2018 13:204

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  19. Content type: Research

    Being diagnosed with mitochondrial disease due to the m.3243A > G mutation is frequently preceded by a long diagnostic process. The disease itself is characterized by heterogeneous course and expression, so le...

    Authors: José A. E. Custers, Paul de Laat, Saskia Koene, Jan Smeitink, Mirian C. H. Janssen and Christianne Verhaak

    Citation: Orphanet Journal of Rare Diseases 2018 13:203

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  20. Content type: Research

    The ASTERIX project developed a number of novel methods suited to study small populations. The objective of this exercise was to evaluate the applicability and added value of novel methods to improve drug deve...

    Authors: Marian Mitroiu, Katrien Oude Rengerink, Caridad Pontes, Aranzazu Sancho, Roser Vives, Stella Pesiou, Juan Manuel Fontanet, Ferran Torres, Stavros Nikolakopoulos, Konstantinos Pateras, Gerd Rosenkranz, Martin Posch, Susanne Urach, Robin Ristl, Armin Koch, Spineli Loukia…

    Citation: Orphanet Journal of Rare Diseases 2018 13:200

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  21. Content type: Research

    Common variable immunodeficiency disorders (CVID) are a group of rare innate disorders characterized by specific antibody deficiency and increased rates of infections, comorbidities and mortality. The burden o...

    Authors: Irina Odnoletkova, Gerhard Kindle, Isabella Quinti, Bodo Grimbacher, Viviane Knerr, Benjamin Gathmann, Stephan Ehl, Nizar Mahlaoui, Philippe Van Wilder, Kris Bogaerts and Esther de Vries

    Citation: Orphanet Journal of Rare Diseases 2018 13:201

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  23. Content type: Research

    Patient information in rare disease registries is generally collected from numerous data sources, necessitating the data to be federated. In addition, data for research purposes must be de-identified. Transfor...

    Authors: Meriem Maaroufi, Paul Landais, Claude Messiaen, Marie-Christine Jaulent and Rémy Choquet

    Citation: Orphanet Journal of Rare Diseases 2018 13:199

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  24. Content type: Research

    Patients with hemophilia and inhibitors generally face greater disease burden compared to patients without inhibitors. While raising awareness of relative burden may improve the standard of care for patients w...

    Authors: Abiola O. Oladapo, Mei Lu, Shaun Walsh, Jamie O’Hara and Teresa L. Kauf

    Citation: Orphanet Journal of Rare Diseases 2018 13:198

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  26. Content type: Research

    Funding of orphan medicinal products (OMPs) is an increasing challenge in the European Union (EU).

    Authors: Márta Szegedi, Tamás Zelei, Francis Arickx, Anna Bucsics, Emanuelle Cohn-Zanchetta, Jurij Fürst, Maria Kamusheva, Pawel Kawalec, Guenka Petrova, Juraj Slaby, Ewa Stawowczyk, Milan Vocelka, Ingrid Zechmeister-Koss, Zoltán Kaló and Mária Judit Molnár

    Citation: Orphanet Journal of Rare Diseases 2018 13:184

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  27. Content type: Position statement

    Orphan drug development faces numerous challenges, including low disease prevalence, patient population heterogeneity, and strong presence of paediatric patient populations. Consequently, clinical trials for o...

    Authors: Simon Day, Anneliene Hechtelt Jonker, Lilian Pek Lian Lau, Ralf-Dieter Hilgers, Ilan Irony, Kristina Larsson, Kit CB Roes and Nigel Stallard

    Citation: Orphanet Journal of Rare Diseases 2018 13:195

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  28. Content type: Position statement

    We now live in a time of unprecedented opportunities to turn scientific discoveries into better treatments for the estimated 30 million people in the US living with rare diseases. Despite these scientific adva...

    Authors: Petra Kaufmann, Anne R. Pariser and Christopher Austin

    Citation: Orphanet Journal of Rare Diseases 2018 13:196

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  29. Content type: Research

    High-resolution nerve ultrasound (HRUS) is a painless tool to quickly evaluate peripheral nerve morphology in vivo. This study set out to characterize peripheral nerve involvement in X-linked adrenomyeloneurop...

    Authors: Tim W. Rattay, Jennifer Just, Benjamin Röben, Holger Hengel, Rebecca Schüle, Matthis Synofzik, Anne S. Söhn, Natalie Winter, Nele Dammeier, Ludger Schöls and Alexander Grimm

    Citation: Orphanet Journal of Rare Diseases 2018 13:194

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  30. Content type: Letter to the Editor

    Generalized severe epidermolysis bullosa simplex (EBS-gen sev) is caused by mutations within either the KRT5 or KRT14 gene, phenotypically resulting in blistering and wounding of the skin and mucous membranes aft...

    Authors: Michael Ablinger, Thomas K. Felder, Monika Wimmer, Roland Zauner, Peter Hofbauer, Thomas Lettner, Martin Wolkersdorfer, Florian B. Lagler, Anja Diem, Johann W. Bauer and Verena Wally

    Citation: Orphanet Journal of Rare Diseases 2018 13:193

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  31. Content type: Research

    People with Phenylketonuria (PKU) who respond to tetrahydrobiopterin (BH4) often decrease dependence on medical food (MF) following increased phenylalanine (phe) tolerance. Responders to BH4 may experience a r...

    Authors: Kristen D Brantley, Teresa D Douglas and Rani H Singh

    Citation: Orphanet Journal of Rare Diseases 2018 13:192

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  32. Content type: Research

    Extensive and complex vascular malformations often cause chronic pain and severe functional restraint. Conventional treatments, such as surgery and/or sclerotherapy, are rarely curative, underscoring the great...

    Authors: Jennifer Hammer, Emmanuel Seront, Steven Duez, Sophie Dupont, An Van Damme, Sandra Schmitz, Claire Hoyoux, Caroline Chopinet, Philippe Clapuyt, Frank Hammer, Miikka Vikkula and Laurence M. Boon

    Citation: Orphanet Journal of Rare Diseases 2018 13:191

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  33. Content type: Research

    Oral cholic acid (CA) replacement has been shown to be an effective therapy in children with primary bile acid synthesis defects, which are rare and severe genetic liver diseases. To date there has been no rep...

    Authors: Emmanuel Gonzales, Lorenza Matarazzo, Stéphanie Franchi-Abella, Alain Dabadie, Joseph Cohen, Dalila Habes, Sophie Hillaire, Catherine Guettier, Anne-Marie Taburet, Anne Myara and Emmanuel Jacquemin

    Citation: Orphanet Journal of Rare Diseases 2018 13:190

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  34. Content type: Research

    Despite dietary intervention, individuals with early treated phenylketonuria (ETPKU) could present neurocognitive deficits and white matter (WM) abnormalities. The aim of the present study was to evaluate the ...

    Authors: María Julieta González, Mónica Rebollo Polo, Pablo Ripollés, Rosa Gassió, Aída Ormazabal, Cristina Sierra, Roser Colomé Roura, Rafael Artuch and Jaume Campistol

    Citation: Orphanet Journal of Rare Diseases 2018 13:188

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  36. Content type: Research

    It is well documented that mothers of children with intellectual disabilities or autism experience elevated stress, with mental health compromised. However, comparatively little is known about mothers of child...

    Authors: Dawn Adams, Richard P Hastings, Clair Alston-Knox, Rina Cianfaglione, Kate Eden, David Felce, Gemma Griffith, Jo Moss, Chris Stinton and Chris Oliver

    Citation: Orphanet Journal of Rare Diseases 2018 13:185

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  37. Content type: Review

    Where there are a limited number of patients, such as in a rare disease, clinical trials in these small populations present several challenges, including statistical issues. This led to an EU FP7 call for prop...

    Authors: Tim Friede, Martin Posch, Sarah Zohar, Corinne Alberti, Norbert Benda, Emmanuelle Comets, Simon Day, Alex Dmitrienko, Alexandra Graf, Burak Kürsad Günhan, Siew Wan Hee, Frederike Lentz, Jason Madan, Frank Miller, Thomas Ondra, Michael Pearce…

    Citation: Orphanet Journal of Rare Diseases 2018 13:186

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  38. Content type: Research

    Osteogenesis imperfecta (OI) affects dental and craniofacial development and may therefore impair Oral Health-Related Quality of Life (OHRQoL). However, little is known about OHRQoL in children and adolescents...

    Authors: Mohammadamin Najirad, Mang Shin Ma, Frank Rauch, Vernon Reid Sutton, Brendan Lee, Jean-Marc Retrouvey and Shahrokh Esfandiari

    Citation: Orphanet Journal of Rare Diseases 2018 13:187

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  39. Content type: Research

    The Orphan Drug Act was enacted in 1983 to encourage the development of drugs for rare diseases. Previous research has attempted to examine the impact of the Act by assessing either the number of orphan design...

    Authors: Kathleen L. Miller and Michael Lanthier

    Citation: Orphanet Journal of Rare Diseases 2018 13:183

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  40. Content type: Research

    Lymphangioleiomyomatosis (LAM) and connective tissue diseases (CTDs) occur more frequently among women than men. We investigated the frequency of comorbid CTD and positive serum autoantibody findings in patien...

    Authors: Shinji Futami, Toru Arai, Masaki Hirose, Chikatoshi Sugimoto, Naoya Ikegami, Masanori Akira, Takahiko Kasai, Masanori Kitaichi, Seiji Hayashi and Yoshikazu Inoue

    Citation: Orphanet Journal of Rare Diseases 2018 13:182

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  41. Content type: Research

    Estrogen plays a role in infantile hemangioma (IH) development, but the underlying mechanism remains unclear. This study aimed to assess estrogen and estrogen receptor (ER) localization and expression levels i...

    Authors: Fang Hou, Yuemeng Dai, Chun-Yang Fan, James Y. Suen and Gresham T. Richter

    Citation: Orphanet Journal of Rare Diseases 2018 13:181

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  42. Content type: Research

    Real-world data on usage and associated outcomes with hereditary angioedema (HAE)-specific medications introduced to the United States (US) market since 2009 are very limited. The purpose of this retrospective...

    Authors: Marc A Riedl, Aleena Banerji, Michael E Manning, Earl Burrell, Namita Joshi, Dipen Patel, Thomas Machnig, Ming-Hui Tai and Douglas J Watson

    Citation: Orphanet Journal of Rare Diseases 2018 13:180

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  43. Content type: Research

    Wiedemann–Steiner syndrome (WDSTS) is a rare genetic disorder characterized by facial gestalt, neurodevelopmental delay, skeletal anomalies and growth retardation, which is caused by variation of KMT2A gene. To d...

    Authors: Niu Li, Yirou Wang, Yu Yang, Pengpeng Wang, Hui Huang, Shiyi Xiong, Luming Sun, Min Cheng, Cui Song, Xinran Cheng, Yu Ding, Guoying Chang, Yao Chen, Yufei Xu, Tingting Yu, Ru-en Yao…

    Citation: Orphanet Journal of Rare Diseases 2018 13:178

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  44. Content type: Research

    A decision tree model was built to estimate the economic impact of introducing screening for X-linked adrenoleukodystrophy (X-ALD) into an existing tandem mass spectrometry based newborn screening programme. T...

    Authors: Alice Bessey, James B Chilcott, Joanna Leaviss and Anthea Sutton

    Citation: Orphanet Journal of Rare Diseases 2018 13:179

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  45. Content type: Research

    The worldwide landscape of patient registries in the neuromuscular disease (NMD) field has significantly changed in the last 10 years, with the international TREAT-NMD network acting as strong driver. At the s...

    Authors: Anna Ambrosini, Daniela Calabrese, Francesco Maria Avato, Felice Catania, Guido Cavaletti, Maria Carmela Pera, Antonio Toscano, Giuseppe Vita, Lucia Monaco and Davide Pareyson

    Citation: Orphanet Journal of Rare Diseases 2018 13:176

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  46. Content type: Letter to the Editor

    Transthyretin (TTR)-related familial amyloid polyneuropathy (TTR-FAP) is a life-threatening autosomal dominant, systemic disease. First symptoms usually occur from the second to over sixth decade of life with ...

    Authors: Marina Grandis, Alessandro Geroldi, Rossella Gulli, Fiore Manganelli, Fabio Gotta, Merit Lamp, Paola Origone, Lucia Trevisan, Chiara Gemelli, Sabrina Fabbri, Angelo Schenone, Stefano Tozza, Lucio Santoro, Emilia Bellone and Paola Mandich

    Citation: Orphanet Journal of Rare Diseases 2018 13:177

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  47. Content type: Research

    Niemann-Pick disease type C (NP-C) is a neurodegenerative lysosomal lipid storage disease caused by autosomal recessive mutations in the NPC1 or NPC2 genes. The clinical presentation and evolution of NP-C and the...

    Authors: Yann Nadjar, Ana Lucia Hütter-Moncada, Philippe Latour, Xavier Ayrignac, Elsa Kaphan, Christine Tranchant, Pascal Cintas, Adrian Degardin, Cyril Goizet, Chloe Laurencin, Lionel Martzolff, Caroline Tilikete, Mathieu Anheim, Bertrand Audoin, Vincent Deramecourt, Thierry Dubard De Gaillarbois…

    Citation: Orphanet Journal of Rare Diseases 2018 13:175

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  48. Content type: Research

    Urea cycle disorders (UCDs) are inherited metabolic disorders that present with hyperammonemia, and cause significant mortality and morbidity in infants and children. These disorders are not well reported in t...

    Authors: Sunita Bijarnia-Mahay, Johannes Häberle, Anil B. Jalan, Ratna Dua Puri, Sudha Kohli, Ketki Kudalkar, Véronique Rüfenacht, Deepti Gupta, Deepshikha Maurya, Jyotsna Verma, Yosuke Shigematsu, Seiji Yamaguchi, Renu Saxena and Ishwar C. Verma

    Citation: Orphanet Journal of Rare Diseases 2018 13:174

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  49. Content type: Letter to the Editor

    Fabry disease (FD) is a rare X-linked disorder caused by a deficiency of lysosomal α-galactosidase A activity. Treatment with recombinant enzyme replacement therapy is available since 2001 and the effects of a...

    Authors: Malte Lenders, Boris Schmitz, Stefan-Martin Brand and Eva Brand

    Citation: Orphanet Journal of Rare Diseases 2018 13:171

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  50. Content type: Position statement

    Treatment of phenylketonuria (PKU) with sapropterin dihydrochloride in responsive patients from an early age can have many advantages for the patient over dietary restriction alone. Accordingly, approval of sa...

    Authors: Ania C. Muntau, Marcel du Moulin and Francois Feillet

    Citation: Orphanet Journal of Rare Diseases 2018 13:173

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172