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  1. Content type: Research

    Niemann-Pick disease Type C (NP-C) is a lysosomal lipid storage disorder characterized by progressive neurodegenerative symptomatology. The signs and symptoms of NP-C vary with age at disease onset, and availa...

    Authors: Mercedes Pineda, Katarína Juríčková, Parvaneh Karimzadeh, Miriam Kolnikova, Vera Malinova, Jose Luis Insua, Christian Velten and Stefan A. Kolb

    Citation: Orphanet Journal of Rare Diseases 2019 14:32

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  2. Content type: Research

    Clinical trials in rare diseases are more challenging than trials in frequent diseases. Small numbers of eligible trial participants, often complicated by heterogeneity among rare disease patients, hamper the ...

    Authors: C. M. W. Gaasterland, M. C. Jansen – van der Weide, M. J. du Prie – Olthof, M. Donk, M. M. Kaatee, R. Kaczmarek, C. Lavery, K. Leeson-Beevers, N. O’Neill, O. Timmis, V. van Nederveen, E. Vroom and J. H. van der Lee

    Citation: Orphanet Journal of Rare Diseases 2019 14:31

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  3. Content type: Research

    Over 80% of women with X-linked adrenoleukodystrophy (ALD) develop spinal cord disease in adulthood for which treatment is supportive only. For future clinical trials quantitative data on disease progression r...

    Authors: Irene C. Huffnagel, Marcel G. W. Dijkgraaf, Georges E. Janssens, Michel van Weeghel, Björn M. van Geel, Bwee Tien Poll-The, Stephan Kemp and Marc Engelen

    Citation: Orphanet Journal of Rare Diseases 2019 14:30

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  4. Content type: Research

    The RASopathies are a class of developmental disorders caused by germline mutations in the RAS-mitogen-activated protein kinase (MAPK) pathway. Hypertrophic cardiomyopathy (HCM) has been frequently described i...

    Authors: Hao Chen, Xin Li, Xiaoliang Liu, Jian Wang, Zhen Zhang, Jinjin Wu, Meirong Huang, Ying Guo, Fen Li, Xiumin Wang and Lijun Fu

    Citation: Orphanet Journal of Rare Diseases 2019 14:29

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  5. Content type: Research

    Hereditary hemorrhagic telangiectasia (HHT) is a multisystemic inherited vascular dysplasia that leads to nosebleeds and visceral arteriovenous malformations (AVMs). Anti-angiogenic drugs thalidomide and bevac...

    Authors: Elisabetta Buscarini, Luisa Maria Botella, Urban Geisthoff, Anette D. Kjeldsen, Hans Jurgen Mager, Fabio Pagella, Patrizia Suppressa, Roberto Zarrabeitia, Sophie Dupuis-Girod and Claire L. Shovlin

    Citation: Orphanet Journal of Rare Diseases 2019 14:28

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  6. Content type: Letter to the Editor

    Giant axonal neuropathy (GAN; ORPHA: 643; OMIM# 256850) is a rare, hereditary, pediatric neurodegenerative disorder associated with intracellular accumulations of intermediate filaments (IFs). GAN knockout (KO...

    Authors: Diane Armao, Thomas W. Bouldin, Rachel M. Bailey, Jody E. Hooper, Diana X. Bharucha and Steven J. Gray

    Citation: Orphanet Journal of Rare Diseases 2019 14:27

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  7. Content type: Research

    Little data is available on awareness of hemophilia carrier condition or associated bleeding risk and management in Sub-Saharan African countries. This study sought to identify hemophilia carriers in Côte d’Iv...

    Authors: Catherine Lambert, N’ Dogomo Meité, Ibrahima Sanogo, Sébastien Lobet, Eusèbe Adjambri, Stéphane Eeckhoudt and Cedric Hermans

    Citation: Orphanet Journal of Rare Diseases 2019 14:26

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  8. Content type: Research

    Newborn screening programs are essential preventative public health initiatives but are not widely available in low-resource settings. The objective of this study was to describe the frequency and nature of sc...

    Authors: Malia S. Q. Murphy, Pranesh Chakraborty, Jesmin Pervin, Anisur Rahman, Lindsay A. Wilson, Monica Lamoureux, Kathryn Denize, Matthew Henderson, Steve Hawken, Beth K. Potter, Julian Little and Kumanan Wilson

    Citation: Orphanet Journal of Rare Diseases 2019 14:25

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  9. Content type: Research

    While extraocular muscles are affected early in myasthenia gravis (MG), but respond to treatment, we observe a high incidence of treatment-resistant ophthalmoplegia (OP-MG) among MG subjects with African genet...

    Authors: Melissa Nel, Sharon Prince and Jeannine M. Heckmann

    Citation: Orphanet Journal of Rare Diseases 2019 14:24

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  10. Content type: Research

    Patient reported outcome (PRO) information is crucial for establishing better patient-provider communication, improving shared decision-making between clinicians and patients, assessing patient responses to th...

    Authors: Laura L. Tosi, Marianne K. Floor, Christina M. Dollar, Austin P. Gillies, Tracy S. Hart, David D. Cuthbertson, V. Reid Sutton and Jeffrey P. Krischer

    Citation: Orphanet Journal of Rare Diseases 2019 14:23

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  11. Content type: Research

    The clinical effect of copper accumulation on the heart of patients suffering from Wilson’s disease (WD) is not completely understood. We aimed to determine if patients with WD show signs of cardiac involvemen...

    Authors: Silvio Quick, Ulrike Reuner, Marie Weidauer, Charlotte Hempel, Felix Martin Heidrich, Christoph Mues, Krunoslav Michael Sveric, Karim Ibrahim, Heinz Reichmann, Axel Linke and Uwe Speiser

    Citation: Orphanet Journal of Rare Diseases 2019 14:22

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  12. Content type: Research

    There is increasing interest in actively involving patients in the process of medical research to help ensure research is relevant and important to both researchers and people affected by the disease under stu...

    Authors: Kalen Young, Dana Kaminstein, Ana Olivos, Cristina Burroughs, Celeste Castillo-Lee, Joyce Kullman, Carol McAlear, Dianne G. Shaw, Antoine Sreih, George Casey and Peter A. Merkel

    Citation: Orphanet Journal of Rare Diseases 2019 14:21

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  13. Content type: Review

    Rare and ultra-rare diseases (URDs) are often chronic and life-threatening conditions that have a profound impact on sufferers and their families, but many are notoriously difficult to detect. Niemann-Pick dis...

    Authors: María-Jesús Sobrido, Peter Bauer, Tom de Koning, Thomas Klopstock, Yann Nadjar, Marc C Patterson, Matthis Synofzik and Chris J Hendriksz

    Citation: Orphanet Journal of Rare Diseases 2019 14:20

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  14. Content type: Research

    CLN6-Batten disease is a rare neurodevelopmental disorder characterized pathologically by the accumulation of lysosomal storage material, glial activation and neurodegeneration, and phenotypically by loss of v...

    Authors: McKayla J. Poppens, Jacob T. Cain, Tyler B. Johnson, Katherine A. White, Samantha S. Davis, Rachel Laufmann, Alexander D. Kloth and Jill M. Weimer

    Citation: Orphanet Journal of Rare Diseases 2019 14:19

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  15. Content type: Research

    Survival and quality of life for patients affected by spinal muscular atrophy (SMA) are thought to have improved over the last decade due to changes in care. In addition, targeted treatments for SMA have been ...

    Authors: Astrid Pechmann, Kirsten König, Günther Bernert, Kristina Schachtrup, Ulrike Schara, David Schorling, Inge Schwersenz, Sabine Stein, Adrian Tassoni, Sibylle Vogt, Maggie C. Walter, Hanns Lochmüller and Janbernd Kirschner

    Citation: Orphanet Journal of Rare Diseases 2019 14:18

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  16. Content type: Research

    In all patients with mucopolysaccharidosis type I (MPS I), skeletal disease (dysostosis multiplex) is a prominent, debilitating, condition related complication that may impact strongly on activities of daily l...

    Authors: Gé-Ann Kuiper, Eveline J. Langereis, Sandra Breyer, Marco Carbone, René M. Castelein, Deborah M. Eastwood, Christophe Garin, Nathalie Guffon, Peter M. van Hasselt, Pauline Hensman, Simon A. Jones, Vladimir Kenis, Moyo Kruyt, Johanna H. van der Lee, William G. Mackenzie, Paul J. Orchard…

    Citation: Orphanet Journal of Rare Diseases 2019 14:17

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  17. Content type: Research

    Knowledge on the prevalence of sex chromosome abnormalities (SCAs) is limited, and delayed diagnosis or non-diagnosis of SCAs are a continuous concern. We aimed to investigate change over time in incidence, pr...

    Authors: Agnethe Berglund, Mette Hansen Viuff, Anne Skakkebæk, Simon Chang, Kirstine Stochholm and Claus Højbjerg Gravholt

    Citation: Orphanet Journal of Rare Diseases 2019 14:16

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  18. Content type: Letter to the Editor

    Down syndrome (DS) is the most common form of viable chromosomal abnormality. DS is associated with recurrent infections, auto-immunity and malignancies in children. Little is known about immunity and infectio...

    Authors: Aurélien Guffroy, Yannick Dieudonné, Beatrice Uring-Lambert, Joelle Goetz, Yves Alembik and Anne-Sophie Korganow

    Citation: Orphanet Journal of Rare Diseases 2019 14:15

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  19. Content type: Review

    Freeman-Burian syndrome (FBS) is a rare congenital myopathic craniofacial syndrome. Considerable variability in severity is seen, but diagnosis requires the following: microstomia, whistling-face appearance (p...

    Authors: Mikaela I. Poling, Craig R. Dufresne and Robert L. Chamberlain

    Citation: Orphanet Journal of Rare Diseases 2019 14:14

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  21. Content type: Research

    High orphan drug prices have gained the attention of payers and policy makers. These prices may reflect the need to recoup the cost of drug development from a small patient pool. However, estimates of the cost...

    Authors: Kavisha Jayasundara, Aidan Hollis, Murray Krahn, Muhammad Mamdani, Jeffrey S. Hoch and Paul Grootendorst

    Citation: Orphanet Journal of Rare Diseases 2019 14:12

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  22. Content type: Research

    Erdheim–Chester disease (ECD) is a rare multi-systemic form of histiocytosis. Treatment with BRAF inhibitors has markedly improved outcomes of ECD; however, this targeted therapy is expensive (estimated annual...

    Authors: Xin-xin Cao, Na Niu, Jian Sun, Hao Cai, Feng-dan Wang, Yi-ning Wang, Ming-hui Duan, Dao-bin Zhou and Jian Li

    Citation: Orphanet Journal of Rare Diseases 2019 14:11

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  23. Content type: Research

    The progressive cardiomyopathy that develops in boys with Duchenne and Becker muscular dystrophy (DMD/BMD) is presumed to be a secondary consequence of the fibrosis within the myocardium. There are only limite...

    Authors: Roman Panovský, Martin Pešl, Tomáš Holeček, Jan Máchal, Věra Feitová, Lenka Mrázová, Jana Haberlová, Alžběta Slabá, Pavel Vít, Veronika Stará and Vladimír Kincl

    Citation: Orphanet Journal of Rare Diseases 2019 14:10

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  24. Content type: Research

    Chylothorax is a rare condition which can be associated with malignant lymphoproliferative disorders (LPDs). We retrospectively analyzed the results of the conservative treatment of 10 patients with persistent...

    Authors: Jana Pospiskova, Lukas Smolej, David Belada, Martin Simkovic, Monika Motyckova, Alice Sykorova, Pavla Stepankova and Pavel Zak

    Citation: Orphanet Journal of Rare Diseases 2019 14:9

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  25. Content type: Letter to the Editor

    The optical accessibility of the eye and technological advances in ophthalmic diagnostics have put ophthalmology at the forefront of data-driven medicine. The focus of this study is rare eye disorders, a group...

    Authors: Panagiotis I. Sergouniotis, Emmanuel Maxime, Dorothée Leroux, Annie Olry, Rachel Thompson, Ana Rath, Peter N. Robinson and Hélène Dollfus

    Citation: Orphanet Journal of Rare Diseases 2019 14:8

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  26. Content type: Research

    Phenylalanine hydroxylase (PAH) deficiency is one of 31 targeted inherited metabolic diseases (IMD) for the Canadian Inherited Metabolic Diseases Research Network (CIMDRN). Early diagnosis and initiation of tr...

    Authors: Nataliya Yuskiv, Beth K. Potter, Sylvia Stockler, Keiko Ueda, Alette Giezen, Barbara Cheng, Erica Langley, Suzanne Ratko, Valerie Austin, Maggie Chapman, Pranesh Chakraborty, Jean Paul Collet and Amy Pender

    Citation: Orphanet Journal of Rare Diseases 2019 14:7

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  27. Content type: Letter to the Editor

    Biotinidase deficiency is an autosomal recessive disorder that affects the endogenous recycling and release of biotin from dietary protein. This disease was thought to be rare in East Asia. In this report, we ...

    Authors: Rai-Hseng Hsu, Yin-Hsiu Chien, Wuh-Liang Hwu, I-Fan Chang, Hui-Chen Ho, Shi-Ping Chou, Tzu-Ming Huang and Ni-Chung Lee

    Citation: Orphanet Journal of Rare Diseases 2019 14:6

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  28. Content type: Research

    MicroRNAs (miRNAs) have been associated with the Hirschsprung disease (HSCR) pathogenesis, however, the findings are still inconclusive. We aimed to investigate the effect of miRNA-206 and its targets, fibronecti...

    Authors: Gunadi, Nova Yuli Prasetyo Budi, Alvin Santoso Kalim, Wiwid Santiko, Fuad Dheni Musthofa, Kristy Iskandar and Akhmad Makhmudi

    Citation: Orphanet Journal of Rare Diseases 2019 14:5

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  29. Content type: Letter to the Editor

    Fabry disease (OMIM #301500) is an X-linked disorder caused by alpha-galactosidase A deficiency with two major clinical phenotypes: classic and non-classic of different prognosis. From 2001, enzyme replacement...

    Authors: Wladimir Mauhin, Olivier Lidove and Olivier Benveniste

    Citation: Orphanet Journal of Rare Diseases 2019 14:4

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  30. Content type: Research

    Dysregulation of the inositol cycle is implicated in a wide variety of human diseases, including developmental defects and neurological diseases. A homozygous frameshift mutation in IMPA1, coding for the enzyme i...

    Authors: Christopher P. Walker, Andre L. S. Pessoa, Thalita Figueiredo, Megan Rafferty, Uirá S. Melo, Paulo R. Nóbrega, Nicholas Murphy, Fernando Kok, Mayana Zatz, Silvana Santos and Raymond Y. Cho

    Citation: Orphanet Journal of Rare Diseases 2019 14:3

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  31. Content type: Research

    In the treatment of phenylketonuria (PKU), there was disparity between UK dietitians regarding interpretation of how different foods should be allocated in a low phenylalanine diet (allowed without measurement...

    Authors: Sharon Evans, Suzanne Ford, Sarah Adam, Sandra Adams, Jane Ash, Catherine Ashmore, Gillian Caine, Rachel Carruthers, Sarah Cawtherley, Satnam Chahal, Anne Clark, Barbara Cochrane, Anne Daly, Karen Dines, Marjorie Dixon, Carolyn Dunlop…

    Citation: Orphanet Journal of Rare Diseases 2019 14:2

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  32. Content type: Review

    Achondroplasia is the most common of the skeletal dysplasias that result in marked short stature (dwarfism). Although its clinical and radiologic phenotype has been described for more than 50 years, there is s...

    Authors: Richard M. Pauli

    Citation: Orphanet Journal of Rare Diseases 2019 14:1

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  33. Content type: Research

    Patients with Osteogenesis imperfecta (OI) suffer from increased bone fracture tendency generally caused by a mutation in genes coding for type I collagen. OI is also characterized by numerous co-morbidities, ...

    Authors: Heidi Arponen, Adel Bachour, Leif Bäck, Helena Valta, Antti Mäkitie, Janna Waltimo-Sirén and Outi Mäkitie

    Citation: Orphanet Journal of Rare Diseases 2018 13:231

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  34. Content type: Research

    Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycaemia in infancy that leads to unfavourable neurological outcome if not treated adequately. In patients with severe diffuse CHI i...

    Authors: Alena Welters, Thomas Meissner, Jürgen Grulich-Henn, Elke Fröhlich-Reiterer, Katharina Warncke, Klaus Mohnike, Oliver Blankenstein, Ulrike Menzel, Nicolin Datz, Esther Bollow and Reinhard W. Holl

    Citation: Orphanet Journal of Rare Diseases 2018 13:230

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  35. Content type: Research

    To analyze the clinical audiological characteristics of X-Linked Alport syndrome (XLAS) in males and their relationships with genotypes.

    Authors: Xiao Zhang, Yanqin Zhang, Yanmei Zhang, Hongbo Gu, Zhe Chen, Lei Ren, Xingxing Lu, Li Chen, Fang Wang, Yuhe Liu and Jie Ding

    Citation: Orphanet Journal of Rare Diseases 2018 13:229

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  36. Content type: Review

    Rare diseases are often not fully understood and efforts put in investigating it from patient perspective are usually met with challenges. We performed a systematic literature review (SLR) for the last 20 year...

    Authors: Naomi Knoble, Gabrielle Nayroles, Cherry Cheng and Benoit Arnould

    Citation: Orphanet Journal of Rare Diseases 2018 13:228

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  37. Content type: Research

    The Differences of Sex Development network (DSDnet) aims to establish interactive relationships between clinicians, scientists, support groups and people with a difference of sex development (DSD) to improve t...

    Authors: R. Bertalan, A. Lucas-Herald, Z. Kolesinska, M. Berra, Martine Cools, A. Balsamo and O. Hiort

    Citation: Orphanet Journal of Rare Diseases 2018 13:227

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  38. Content type: Research

    Galloway-Mowat syndrome (GAMOS) is a rare autosomal recessive disease characterized by the combination of glomerulopathy with early-onset nephrotic syndrome and microcephaly with central nervous system anomali...

    Authors: Pei-Yi Lin, Min-Hua Tseng, Martin Zenker, Jia Rao, Friedhelm Hildebrandt, Shih-Hua Lin, Chun-Chen Lin, Jui-Hsing Chang, Chyong-Hsin Hsu, Ming-Dar Lee, Shuan-Pei Lin and Jeng-Daw Tsai

    Citation: Orphanet Journal of Rare Diseases 2018 13:226

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  39. Content type: Research

    Emerging evidence suggests that several factors can impact disease progression in transthyretin amyloid polyneuropathy (ATTR-PN). The present analysis used longitudinal data from Val30Met patients participatin...

    Authors: Leslie Amass, Huihua Li, Balarama K. Gundapaneni, Jeffrey H. Schwartz and Denis J. Keohane

    Citation: Orphanet Journal of Rare Diseases 2018 13:225

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  40. Content type: Review

    Cystic fibrosis (CF) is a rare disease most commonly seen in Caucasians. Only a few Chinese CF patients have been described in literature, taking into account the large population of China. In this systematic ...

    Authors: Xiaobei Guo, Keqiang Liu, Yaping Liu, Yusen Situ, Xinlun Tian, Kai-Feng Xu and Xue Zhang

    Citation: Orphanet Journal of Rare Diseases 2018 13:224

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  41. Content type: Research

    Hereditary Haemorrhagic Telangiectasia (HHT) is an autosomal dominant genetic disorder with a wide variety of clinical manifestations due to the presence of multiple arteriovenous malformations in various tiss...

    Authors: Katrine Saldern Aagaard, Anette Drøhse Kjeldsen, Pernille Mathiesen Tørring and Anders Green

    Citation: Orphanet Journal of Rare Diseases 2018 13:223

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  42. Content type: Research

    Pulmonary lymphangioleiomyomatosis (LAM) is a rare disease of women characterized by multiple lung cysts leading to respiratory insufficiency and frequent pneumothorax (PT). Air travel (AT) could increase the ...

    Authors: Cynthia Gonano, Jérôme Pasquier, Cécile Daccord, Simon R. Johnson, Sergio Harari, Violette Leclerc, Lucy Falconer, Eleonora Miano, Jean-François Cordier, Vincent Cottin and Romain Lazor

    Citation: Orphanet Journal of Rare Diseases 2018 13:222

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  43. 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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  44. 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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  45. 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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  46. 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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  47. 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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  48. 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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  49. 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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  50. 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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Orphanet Journal of Rare Diseases

ISSN: 1750-1172