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  1. Content type: Review

    The progressive ataxias are a group of rare and complicated neurological disorders, knowledge of which is often poor among healthcare professionals (HCPs). The patient support group Ataxia UK, recognising the ...

    Authors: Rajith de Silva, Julie Greenfield, Arron Cook, Harriet Bonney, Julie Vallortigara, Barry Hunt and Paola Giunti

    Citation: Orphanet Journal of Rare Diseases 2019 14:51

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  2. Content type: Research

    Hemophagocytic lymphohistiocytosis (HLH) is a rare severe clinical syndrome. HLH manifesting during pregnancy has been paid much attention in recent years. Despite the specificity of pregnancy-related HLH, the...

    Authors: Yue Song, Zhao Wang, Zengping Hao, Lihong Li, Junli Lu, Hongjun Kang, Yanping Lu, Yanqin You, Lijuan Li, Qingyun Chen and Bo Chen

    Citation: Orphanet Journal of Rare Diseases 2019 14:50

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  3. Content type: Research

    The burden of rare diseases on society and patients’ families has increased in Korea. However, because of the infrequency of rare diseases, there is a lack of resources and information to address these cases a...

    Authors: Sung-Shil Lim, Wanhyung Lee, Yeong-Kwang Kim, Jihyun Kim, Jong Heon Park, Bo Ram Park and Jin-Ha Yoon

    Citation: Orphanet Journal of Rare Diseases 2019 14:49

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  4. Content type: Research

    Severe mucopolysaccharidosis type I (also known as Hurler syndrome) is a rare devasting recessive genetic disease caused by the deficiency of an enzyme. Hematopoietic stem cell transplant is the standard of ca...

    Authors: Therese Conner, Francesca Cook, Vivian Fernandez, Karen Rascati and Vanessa Rangel-Miller

    Citation: Orphanet Journal of Rare Diseases 2019 14:48

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  5. Content type: Research

    Since incentives were introduced to promote orphan drugs in Europe, several dozens of drugs have been registered at the European level. However, patient access on a national level remains very heterogeneous ac...

    Authors: Marion Bourdoncle, Blandine Juillard-Condat and Florence Taboulet

    Citation: Orphanet Journal of Rare Diseases 2019 14:47

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  6. Content type: Research

    Krabbe disease is a rare neurological disorder caused by a deficiency in the lysosomal enzyme, β-galactocerebrosidase, resulting in demyelination of the central and peripheral nervous systems. If left without ...

    Authors: Maria L. Beltran-Quintero, Nicholas A. Bascou, Michele D. Poe, David A. Wenger, Carlos A. Saavedra-Matiz, Matthew J. Nichols and Maria L. Escolar

    Citation: Orphanet Journal of Rare Diseases 2019 14:46

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  7. Content type: Research

    Cornelia de Lange syndrome (CdLS) and Rubinstein-Taybi syndrome (RSTS) are both rare congenital multiple malformation disorders caused by genes associated with transcription. They share a number of similar fea...

    Authors: Hui Tang, Jing Guo, Siyuan Linpeng and Lingqian Wu

    Citation: Orphanet Journal of Rare Diseases 2019 14:45

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  8. Content type: Research

    In phenylketonuria, casein glycomacropeptide (CGMP) requires modification with the addition of some essential and semi essential amino acids to ensure suitability as a protein substitute. The optimal amount an...

    Authors: A. Daly, S. Evans, S. Chahal, S. Santra, A. Pinto, R. Jackson, C. Gingell, J. Rocha, F. J. Van Spronsen and A. MacDonald

    Citation: Orphanet Journal of Rare Diseases 2019 14:44

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  9. Content type: Research

    Sarcoglycanopathies comprise four subtypes of autosomal recessive limb-girdle muscular dystrophy (LGMD2C, LGMD2D, LGMD2E, and LGMD2F) that are caused, respectively, by mutations in the SGCG, SGCA, SGCB, and SGCD ...

    Authors: Zhiying Xie, Yue Hou, Meng Yu, Yilin Liu, Yanbin Fan, Wei Zhang, Zhaoxia Wang, Hui Xiong and Yun Yuan

    Citation: Orphanet Journal of Rare Diseases 2019 14:43

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  10. Content type: Research

    Myotonic dystrophy (DM1), a neuromuscular disease related to DMPK gene mutations, is associated to endocrine disorders and cancer. A routine endocrine work-up, including thyroid ultrasound (US), was conducted in ...

    Authors: Adrien Ben Hamou, Stéphanie Espiard, Christine Do Cao, Miriam Ladsous, Camille Loyer, Alexandre Moerman, Samuel Boury, Maéva Kyheng, Claire-Marie Dhaenens, Vincent Tiffreau, Pascal Pigny, Gilles Lebuffe, Robert Caiazzo, Sébastien Aubert and Marie Christine Vantyghem

    Citation: Orphanet Journal of Rare Diseases 2019 14:42

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  11. Content type: Research

    Bartter Syndrome is a rare, genetically heterogeneous, mainly autosomal recessively inherited condition characterized by hypochloremic hypokalemic metabolic alkalosis. Mutations in several genes encoding for i...

    Authors: Maryam Najafi, Dor Mohammad Kordi-Tamandani, Farkhondeh Behjati, Simin Sadeghi-Bojd, Zeineb Bakey, Ehsan Ghayoor Karimiani, Isabel Schüle, Anoush Azarfar and Miriam Schmidts

    Citation: Orphanet Journal of Rare Diseases 2019 14:41

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  12. Content type: Review

    Propionic acidemia (PA, OMIM #606054) is a serious, life-threatening, inherited, metabolic disorder caused by the deficiency of the mitochondrial enzyme propionyl-coenzyme A (CoA) carboxylase (EC The...

    Authors: Tímea Almási, Lin T. Guey, Christine Lukacs, Kata Csetneki, Zoltán Vokó and Tamás Zelei

    Citation: Orphanet Journal of Rare Diseases 2019 14:40

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  13. Content type: Review

    The treatment of tuberous sclerosis complex (TSC) using mammalian target of rapamycin (mTOR) inhibitors is clinically promising. The aim of the present study was to evaluate the efficacy and safety of mTOR inh...

    Authors: Min Li, Ying Zhou, Chaoyang Chen, Ting Yang, Shuang Zhou, Shuqing Chen, Ye Wu and Yimin Cui

    Citation: Orphanet Journal of Rare Diseases 2019 14:39

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  14. Content type: Research

    The TUBA1A-associated tubulinopathy is clinically heterogeneous with brain malformations, microcephaly, developmental delay and epilepsy being the main clinical features. It is an autosomal dominant disorder most...

    Authors: Moritz Hebebrand, Ulrike Hüffmeier, Regina Trollmann, Ute Hehr, Steffen Uebe, Arif B. Ekici, Cornelia Kraus, Mandy Krumbiegel, André Reis, Christian T. Thiel and Bernt Popp

    Citation: Orphanet Journal of Rare Diseases 2019 14:38

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  15. Content type: Research

    Barth syndrome (BTHS) is an X-linked disorder caused by defects in TAZ with key clinical features including cardiomyopathy, neutropenia and skeletal myopathy. In order to gain a better understanding of the range ...

    Authors: Brittany Hornby, Rebecca McClellan, Lucy Buckley, Kimberley Carson, Tiffany Gooding and Hilary J. Vernon

    Citation: Orphanet Journal of Rare Diseases 2019 14:37

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  16. Content type: Position statement

    Rare or orphan diseases often are inherited and overwhelmingly affect children. Many of these diseases have no treatments, are incurable, and have a devastating impact on patients and their families. Regulator...

    Authors: Andrew E. Mulberg, Christina Bucci-Rechtweg, Joseph Giuliano, David Jacoby, Franklin K. Johnson, Qing Liu, Deborah Marsden, Scott McGoohan, Robert Nelson, Nita Patel, Klaus Romero, Vikram Sinha, Sheela Sitaraman, John Spaltro and Vivian Kessler

    Citation: Orphanet Journal of Rare Diseases 2019 14:36

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  17. Content type: Research

    Primary pulmonary lymphoma (PPL) is a rare disease, especially in children. We analyse the clinical features of PPL in 4 children to strengthen a understanding of it.

    Authors: Xiaohui Wu, Chunju Zhou, Ling Jin, Hui Liu, Jinrong Liu and Shunying Zhao

    Citation: Orphanet Journal of Rare Diseases 2019 14:35

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  18. Content type: Review

    We describe 542 cases of symptomatic hereditary transthyretin amyloid polyneuropathy (ATTR-PN) identified through a review of the literature published between 2005 and 2016. Approximately 18% of the cases were...

    Authors: Márcia Waddington-Cruz, Hartmut Schmidt, Marc F. Botteman, John A. Carter, Michelle Stewart, Markay Hopps, Shari Fallet and Leslie Amass

    Citation: Orphanet Journal of Rare Diseases 2019 14:34

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  19. Content type: Review

    MNGIE is a rare and fatal disease in which absence of the enzyme thymidine phosphorylase induces systemic accumulation of thymidine and deoxyuridine and secondary mitochondrial DNA alterations. Gastrointestina...

    Authors: Rana Yadak, Marjolein Breur and Marianna Bugiani

    Citation: Orphanet Journal of Rare Diseases 2019 14:33

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  20. 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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  21. 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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  22. 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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  23. 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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  24. 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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  25. 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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  26. 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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  27. 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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  28. 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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  29. 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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  30. 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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  31. 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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  32. 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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  33. 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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  34. 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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  35. 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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  36. 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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  37. 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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  38. 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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  39. 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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  40. 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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  41. 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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  42. 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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  43. 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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    The Correction to this article has been published in Orphanet Journal of Rare Diseases 2019 14:200

  44. 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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  45. 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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  46. 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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  47. 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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  48. 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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  49. 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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