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  1. Fahr’s disease or Fahr’s syndrome is a rare, neurological disorder characterized by abnormal calcified deposits in basal ganglia and cerebral cortex. Calcified deposits are made up of calcium carbonate and cal...

    Authors: Shafaq Saleem, Hafiz Muhammad Aslam, Maheen Anwar, Shahzad Anwar, Maria Saleem, Anum Saleem and Muhammad Asim Khan Rehmani

    Citation: Orphanet Journal of Rare Diseases 2013 8:156

    Content type: Review

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  2. Mucopolysaccharidosis type I (MPS-I) is a lysosomal storage disorder characterized by progressive multi-organ disease. The standard of care for patients with the severe phenotype (Hurler syndrome, MPS I-H) is ...

    Authors: Eveline J Langereis, Andrea Borgo, Ellen Crushell, Paul R Harmatz, Peter M van Hasselt, Simon A Jones, Paula M Kelly, Christina Lampe, Johanna H van der Lee, Thierry Odent, Ralph Sakkers, Maurizio Scarpa, Matthias U Schafroth, Peter A Struijs, Vassili Valayannopoulos, Klane K White…

    Citation: Orphanet Journal of Rare Diseases 2013 8:155

    Content type: Research

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  3. Osteogenesis imperfecta (OI) is a clinically and genetically heterogeneous brittle bone disorder. Whereas dominant OI is mostly due to heterozygous mutations in either COL1A1 or COL1A2, encoding type I procollage...

    Authors: Sofie Symoens, Fransiska Malfait, Sanne D’hondt, Bert Callewaert, Annelies Dheedene, Wouter Steyaert, Hans Peter Bächinger, Anne De Paepe, Hulya Kayserili and Paul J Coucke

    Citation: Orphanet Journal of Rare Diseases 2013 8:154

    Content type: Letter to the Editor

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  4. Gaucher disease (GD) is the most common inherited lysosomal storage disorder in humans, caused by mutations in the gene encoding the lysosomal enzyme glucocerebrosidase (GBA1). GD is clinically heterogeneous and ...

    Authors: Yildiz Yildiz, Per Hoffmann, Stefan vom Dahl, Bernadette Breiden, Roger Sandhoff, Claus Niederau, Mia Horwitz, Stefan Karlsson, Mirella Filocamo, Deborah Elstein, Michael Beck, Konrad Sandhoff, Eugen Mengel, Maria C Gonzalez, Markus M Nöthen, Ellen Sidransky…

    Citation: Orphanet Journal of Rare Diseases 2013 8:151

    Content type: Research

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  5. Intravenous (IV) artesunate is the treatment of choice for severe malaria. In Europe, this treatment is only available in a few countries via named patient programmes (NPPs). As a case study, the legal and org...

    Authors: Annemarie Rosan Kreeftmeijer-Vegter, Cornelis KW van Veldhuizen and Peter J de Vries

    Citation: Orphanet Journal of Rare Diseases 2013 8:150

    Content type: Research

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  6. Intravenous augmentation therapy is the only specific treatment available for emphysema associated with alpha-1 antitrypsin deficiency. Despite large observational studies and limited interventional studies th...

    Authors: Robert A Stockley, Marc Miravitlles and Claus Vogelmeier

    Citation: Orphanet Journal of Rare Diseases 2013 8:149

    Content type: Review

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  7. Classical organic acidurias including methylmalonic aciduria (MMA), propionic aciduria (PA) and isovaleric aciduria (IVA) are severe inborn errors of the catabolism of branched-chain amino acids and odd-number...

    Authors: Mathilde Nizon, Chris Ottolenghi, Vassili Valayannopoulos, Jean-Baptiste Arnoux, Valérie Barbier, Florence Habarou, Isabelle Desguerre, Nathalie Boddaert, Jean-Paul Bonnefont, Cécile Acquaviva, Jean-François Benoist, Daniel Rabier, Guy Touati and Pascale de Lonlay

    Citation: Orphanet Journal of Rare Diseases 2013 8:148

    Content type: Research

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  8. Mucopolysaccharidosis type I (MPS I) is a genetic disease caused by the deficiency of α-L-iduronidase (IDUA) activity. MPS I is classified into three clinical phenotypes called Hurler, Scheie, and Hurler-Schei...

    Authors: Shuan-Pei Lin, Hsiang-Yu Lin, Tuen-Jen Wang, Chia-Ying Chang, Chia-Hui Lin, Sung-Fa Huang, Chia-Chen Tsai, Hsuan-Liang Liu, Joan Keutzer and Chih-Kuang Chuang

    Citation: Orphanet Journal of Rare Diseases 2013 8:147

    Content type: Research

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  9. X-linked intellectual disability type Nascimento (MIM #300860), caused by mutations in UBE2A (MIM *312180), is characterized by craniofacial dysmorphism (synophrys, prominent supraorbital ridges, deep-set, almond...

    Authors: Johanna Christina Czeschik, Peter Bauer, Karin Buiting, Claudia Dufke, Encarna Guillén-Navarro, Diana S Johnson, Udo Koehler, Vanesa López-González, Hermann-Josef Lüdecke, Alison Male, Deborah Morrogh, Angelika Rieß, Andreas Tzschach, Dagmar Wieczorek and Alma Kuechler

    Citation: Orphanet Journal of Rare Diseases 2013 8:146

    Content type: Research

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  10. The ACVR1 gene encodes a type I receptor for bone morphogenetic proteins (BMPs). Mutations in the ACVR1 gene are associated with Fibrodysplasia Ossificans Progressiva (FOP), a rare and extremely disabling disorde...

    Authors: Francesca Giacopelli, Serena Cappato, Laura Tonachini, Marzia Mura, Simona Di Lascio, Diego Fornasari, Roberto Ravazzolo and Renata Bocciardi

    Citation: Orphanet Journal of Rare Diseases 2013 8:145

    Content type: Research

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  11. Niemann-Pick type C1 disease (NPC1) is a rare progressive neurodegenerative disorder caused by mutations in the NPC1 gene. In this lysosomal storage disorder the intracellular transport and sequestration of se...

    Authors: Michaela Trilck, Rayk Hübner, Philip Seibler, Christine Klein, Arndt Rolfs and Moritz J Frech

    Citation: Orphanet Journal of Rare Diseases 2013 8:144

    Content type: Research

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  12. Thalassemia syndrome has diverse clinical presentations and a global spread that has far exceeded the classical Mediterranean basin where the mutations arose. The mutations that give rise to either alpha or be...

    Authors: Mohamad H Qari, Yasser Wali, Muneer H Albagshi, Mohammad Alshahrani, Azzah Alzahrani, Ibrahim A Alhijji, Abdulkareem Almomen, Abdullah Aljefri, Hussain H Al Saeed, Shaker Abdullah, Ahmad Al Rustumani, Khoutir Mahour and Shaker A Mousa

    Citation: Orphanet Journal of Rare Diseases 2013 8:143

    Content type: Review

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  13. Adrenal Cushing’s syndrome caused by ACTH-independent macronodular adrenocortical hyperplasia (AIMAH) can be accompanied by aberrant responses to hormonal stimuli. We investigated the prevalence of adrenocorti...

    Authors: Johannes Hofland, Leo J Hofland, Peter M van Koetsveld, Jacobie Steenbergen, Wouter W de Herder, Casper H van Eijck, Ronald R de Krijger, Francien H van Nederveen, Maarten O van Aken, Johannes W de Groot, Thera P Links, Frank H de Jong and Richard A Feelders

    Citation: Orphanet Journal of Rare Diseases 2013 8:142

    Content type: Research

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  14. Brachydactyly (BD) refers to the shortening of the hands, feet or both. There are different types of BD; among them, type E (BDE) is a rare type that can present as an isolated feature or as part of more compl...

    Authors: Arrate Pereda, Intza Garin, Maria Garcia-Barcina, Blanca Gener, Elena Beristain, Ane Miren Ibañez and Guiomar Perez de Nanclares

    Citation: Orphanet Journal of Rare Diseases 2013 8:141

    Content type: Review

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  15. In Gaucher disease (GD), resulting from mutations in the GBA gene, mutant β-glucocerebrosidase (GCase) molecules are recognized as misfolded in the endoplasmic reticulum (ER). They are retrotranslocated to the...

    Authors: Gali Maor, Sigal Rencus-Lazar, Mirella Filocamo, Hermann Steller, Daniel Segal and Mia Horowitz

    Citation: Orphanet Journal of Rare Diseases 2013 8:140

    Content type: Research

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  16. The Cryopyrin-Associated Periodic Syndromes (CAPS) are a group of rare hereditary autoinflammatory diseases and encompass Familial Cold Autoinflammatory Syndrome (FCAS), Muckle-Wells Syndrome (MWS), and Neonat...

    Authors: Hugh Tilson, Paola Primatesta, Dennis Kim, Barbara Rauer, Philip N Hawkins, Hal M Hoffman, Jasmin Kuemmerle-Deschner, Tom van der Poll and Ulrich A Walker

    Citation: Orphanet Journal of Rare Diseases 2013 8:139

    Content type: Research

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  17. Zellweger spectrum disorders (ZSDs) are multisystem genetic disorders caused by a lack of functional peroxisomes, due to mutations in one of the PEX genes, encoding proteins involved in peroxisome biogenesis. The...

    Authors: Kevin Berendse, Merel S Ebberink, Lodewijk IJlst, Bwee Tien Poll-The, RonaldJ A Wanders and Hans R Waterham

    Citation: Orphanet Journal of Rare Diseases 2013 8:138

    Content type: Research

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  18. Erdheim-Chester Disease (ECD) is a rare form of non Langerhans' cell histiocytosis. Individuals affected by this disease are typically adults between their 5th and 7th decades of life. Males and females are al...

    Authors: Roei D Mazor, Mirra Manevich-Mazor and Yehuda Shoenfeld

    Citation: Orphanet Journal of Rare Diseases 2013 8:137

    Content type: Review

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  19. Pyoderma gangrenosum (PG) is a rarely diagnosed ulcerative neutrophilic dermatosis with unknown origin that has been poorly characterized in clinical studies so far. Consequently there have been significant di...

    Authors: Philipp Al Ghazal, Katharina Herberger, Jörg Schaller, Anke Strölin, Norman-Philipp Hoff, Tobias Goerge, Hannelore Roth, Eberhard Rabe, Sigrid Karrer, Regina Renner, Jan Maschke, Thomas Horn, Julia Hepp, Sabine Eming, Uwe Wollina, Markus Zutt…

    Citation: Orphanet Journal of Rare Diseases 2013 8:136

    Content type: Research

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  20. Life-saving orphan drugs are some of the most expensive medicines. European Union governments aim to accommodate their provision within stretched healthcare budgets but face pressure to reduce funding of such ...

    Authors: Hanna I Hyry, Jonathan CP Roos, Jeremy Manuel and Timothy M Cox

    Citation: Orphanet Journal of Rare Diseases 2013 8:135

    Content type: Research

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  21. Mucopolysaccharidosis VI (MPS VI) is an autosomal recessive progressive multiorgan disorder due to mutation in the gene encoding the enzyme Arylsulfatase B (ARSB). Dysfunctional ARSB causes lysosomal accumulat...

    Authors: Sandra Jester, Julia Larsson, Erik A Eklund, Domniki Papadopoulou, Jan-Eric Månsson, Albert N Békássy, Dominik Turkiewicz, Jacek Toporski and Ingrid Øra

    Citation: Orphanet Journal of Rare Diseases 2013 8:134

    Content type: Research

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  22. In phenylketonuria (PKU), elevated blood phenylalanine (Phe) concentrations are considered to impair transport of large neutral amino acids (LNAAs) from blood to brain. This impairment is believed to underlie ...

    Authors: Martijn J de Groot, Marieke Hoeksma, Dirk-Jan Reijngoud, Harold W de Valk, Anne MJ Paans, Pieter JJ Sauer and Francjan J van Spronsen

    Citation: Orphanet Journal of Rare Diseases 2013 8:133

    Content type: Research

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  23. Inherited epidermolysis bullosa (EB) is a group of skin diseases characterized by blistering of the skin and mucous membranes.

    Authors: Marilina Tampoia, Domenico Bonamonte, Angela Filoni, Lucrezia Garofalo, Maria Grazia Morgese, Luigia Brunetti, Chiara Di Giorgio and Giuseppina Annicchiarico

    Citation: Orphanet Journal of Rare Diseases 2013 8:132

    Content type: Research

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  24. Glanders is a highly contagious and often fatal zoonotic disease, primarily of solipds. In the developed world, glanders has been eradicated. However, prior use of B. mallei as a biological weapon and its high mo...

    Authors: Kristopher E Van Zandt, Marek T Greer and H Carl Gelhaus

    Citation: Orphanet Journal of Rare Diseases 2013 8:131

    Content type: Review

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  25. Type I pleuropulmonary blastoma (PPB) and congenital cystic adenomatoid malformation of the lung (CCAM) are cystic lung diseases of childhood. Their clinical and radiological presentations are often similar, a...

    Authors: Guillaume Lezmi, Virginie Verkarre, Naziha Khen-Dunlop, Shamila Vibhushan, Alice Hadchouel, Caroline Rambaud, Marie-Christine Copin, Jean-Luc Rittie, Alexandra Benachi, Jean-Christophe Fournet and Christophe Delacourt

    Citation: Orphanet Journal of Rare Diseases 2013 8:130

    Content type: Research

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  26. Several examples have always illustrated how access to large numbers of biospecimens and associated data plays a pivotal role in the identification of disease genes and the development of pharmaceuticals. Henc...

    Authors: Mirella Filocamo, Chiara Baldo, Stefano Goldwurm, Alessandra Renieri, Corrado Angelini, Maurizio Moggio, Marina Mora, Giuseppe Merla, Luisa Politano, Barbara Garavaglia, Lorena Casareto and Francesca Dagna Bricarelli

    Citation: Orphanet Journal of Rare Diseases 2013 8:129

    Content type: Research

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  27. Biliary atresia (BA) is a rare disease of unknown etiology and unpredictable outcome, even when there has been timely diagnosis and exemplary surgery. It has been the commonest indication for liver transplanta...

    Authors: Claus Petersen and Mark Davenport

    Citation: Orphanet Journal of Rare Diseases 2013 8:128

    Content type: Review

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  28. Neurofibromatosis 1 (NF1) is the most common autosomal dominant disorder, with an incidence of 1 in 2,500-3,300 live births. NF1 is associated with significant morbidity and mortality because of complications,...

    Authors: Ouidad Zehou, Elizabeth Fabre, Laurent Zelek, Emilie Sbidian, Nicolas Ortonne, Eugeniu Banu, Pierre Wolkenstein and Laurence Valeyrie-Allanore

    Citation: Orphanet Journal of Rare Diseases 2013 8:127

    Content type: Research

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  29. To elucidate the genetic basis of a novel neurodegenerative disorder in an Old Order Amish pedigree by combining homozygosity mapping with exome sequencing.

    Authors: Piya Lahiry, Lemuel Racacho, Jian Wang, John F Robinson, Gregory B Gloor, C Anthony Rupar, Victoria M Siu, Dennis E Bulman and Robert A Hegele

    Citation: Orphanet Journal of Rare Diseases 2013 8:126

    Content type: Research

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  30. Müllerian aplasia (MA) is a congenital disorder of the female reproductive tract with absence of uterus and vagina with paramount impact on a woman’s life. Despite intense research, no major genes have been fo...

    Authors: Maria Sandbacka, Hannele Laivuori, Érika Freitas, Mervi Halttunen, Varpu Jokimaa, Laure Morin-Papunen, Carla Rosenberg and Kristiina Aittomäki

    Citation: Orphanet Journal of Rare Diseases 2013 8:125

    Content type: Research

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  31. Attention for Evidence Based Medicine (EBM) is growing, but evidence for orphan drugs is argued to be limited and inferior. This study systematically reviews the available evidence on clinical effectiveness, c...

    Authors: Tim A Kanters, Caroline de Sonneville-Koedoot, W Ken Redekop and Leona Hakkaart

    Citation: Orphanet Journal of Rare Diseases 2013 8:124

    Content type: Research

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  32. Ataxia with oculomotor apraxia defines a group of genetically distinct recessive ataxias including ataxia-telangectasia (A-T, ATM gene), ataxia with oculomotor apraxia type 1 (AOA1, APTX gene) and type 2 (AOA2, S...

    Authors: Lorenzo Nanetti, Simona Cavalieri, Viviana Pensato, Alessandra Erbetta, Davide Pareyson, Marta Panzeri, Giovanna Zorzi, Carlo Antozzi, Isabella Moroni, Cinzia Gellera, Alfredo Brusco and Caterina Mariotti

    Citation: Orphanet Journal of Rare Diseases 2013 8:123

    Content type: Research

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  33. Usher Syndrome is the leading cause of inherited deaf-blindness. It is divided into three subtypes, of which the most common is Usher type 2, and the USH2A gene accounts for 75-80% of cases. Despite recent sequen...

    Authors: Heather B Steele-Stallard, Polona Le Quesne Stabej, Eva Lenassi, Linda M Luxon, Mireille Claustres, Anne-Francoise Roux, Andrew R Webster and Maria Bitner-Glindzicz

    Citation: Orphanet Journal of Rare Diseases 2013 8:122

    Content type: Research

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  34. Hypersensitivity pneumonitis (HP) also called exogenous allergic alveolitis = extrinsic allergic alveolitis in children is an uncommon condition and may not be recognized and treated appropriately.

    Authors: Matthias Griese, Melanie Haug, Dominik Hartl, Veronika Teusch, Judith Glöckner-Pagel and Frank Brasch

    Citation: Orphanet Journal of Rare Diseases 2013 8:121

    Content type: Research

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  35. Congenital generalized lipodystrophy (CGL) or Berardinelli–Seip congenital lipodystrophy (BSCL) is a rare genetic syndrome characterized by the absence of adipose tissue. As CGL is thought to be related to mal...

    Authors: Birgit Knebel, Jorg Kotzka, Stefan Lehr, Sonja Hartwig, Haluk Avci, Sylvia Jacob, Ulrike Nitzgen, Martina Schiller, Winfried März, Michael M Hoffmann, Eva Seemanova, Jutta Haas and Dirk Muller-Wieland

    Citation: Orphanet Journal of Rare Diseases 2013 8:119

    Content type: Research

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  36. Due to prophylactic colectomy, mortality in patients with familial adenomatous polyposis (FAP) has changed, with duodenal cancer currently being the main cause of death. Although celecoxib reduces duodenal pol...

    Authors: Bjorn WH van Heumen, Hennie MJ Roelofs, M Elisa Vink-Börger, Evelien Dekker, Elisabeth MH Mathus-Vliegen, Jan Dees, Jan J Koornstra, Alexandra MJ Langers, Iris D Nagtegaal, Ellen Kampman, Wilbert HM Peters and Fokko M Nagengast,

    Citation: Orphanet Journal of Rare Diseases 2013 8:118

    Content type: Research

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  37. RYR1 mutations are typically associated with core myopathies and are the most common overall cause of congenital myopathy. Dominant mutations are most often associated with central core disease and malignant hype...

    Authors: Kimberly Amburgey, Angela Bailey, Jean H Hwang, Mark A Tarnopolsky, Carsten G Bonnemann, Livija Medne, Katherine D Mathews, James Collins, Jasper R Daube, Gregory P Wellman, Brian Callaghan, Nigel F Clarke and James J Dowling

    Citation: Orphanet Journal of Rare Diseases 2013 8:117

    Content type: Research

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  38. Fabry disease is a rare X-linked hereditary disease caused by mutations in the AGAL gene encoding the lysosomal enzyme alpha-galactosidase A. Enzyme replacement therapy (ERT) is the current cornerstone of Fabr...

    Authors: Frank Weidemann, Maria D Sanchez-Niño, Juan Politei, João-Paulo Oliveira, Christoph Wanner, David G Warnock and Alberto Ortiz

    Citation: Orphanet Journal of Rare Diseases 2013 8:116

    Content type: Review

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  39. Parathyroid carcinoma is a rare malignant endocrine tumor accounting for only 0.5% to 5% of all primary hyperparathyroidism. Among these malignancies, only 10-25% are nonfunctioning. After the review of the li...

    Authors: Doina Piciu, Alexandru Irimie, George Kontogeorgos, Andra Piciu and Rares Buiga

    Citation: Orphanet Journal of Rare Diseases 2013 8:115

    Content type: Letter to the Editor

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  40. Mutations in the CTSA gene, that encodes the protective protein/cathepsin A or PPCA, lead to the secondary deficiency of β-galactosidase (GLB1) and neuraminidase 1 (NEU1), causing the lysosomal storage disorder g...

    Authors: Anna Caciotti, Serena Catarzi, Rodolfo Tonin, Licia Lugli, Carmen Rodriguez Perez, Helen Michelakakis, Irene Mavridou, Maria Alice Donati, Renzo Guerrini, Alessandra d’Azzo and Amelia Morrone

    Citation: Orphanet Journal of Rare Diseases 2013 8:114

    Content type: Research

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  41. Ichthyoses are a heterogeneous group of rare genodermatoses. Patients and their families face difficulties related to daily care and management that may be aggravated by social isolation.

    Authors: Helene Dufresne, Smail Hadj-Rabia, Charles Taïeb and Christine Bodemer

    Citation: Orphanet Journal of Rare Diseases 2013 8:113

    Content type: Research

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  42. Phyllodes tumors are uncommon breast tumors that account for less than 0.5% of all breast malignancies. After metastases develop, the prognosis is poor, with very few patients living more than 1 year. The biol...

    Authors: Denis L Fontes Jardim, Anthony Conley and Vivek Subbiah

    Citation: Orphanet Journal of Rare Diseases 2013 8:112

    Content type: Research

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  43. Fabry_CEP is a user-friendly web-application designed to help clinicians Choose Eligible Patients for the therapy with pharmacological chaperones. It provides a database and a predictive tool to evaluate the r...

    Authors: Marco Cammisa, Antonella Correra, Giuseppina Andreotti and Maria Vittoria Cubellis

    Citation: Orphanet Journal of Rare Diseases 2013 8:111

    Content type: Letter to the Editor

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  44. Mutations in EFTUD2 were proven to cause a very distinct mandibulofacial dysostosis type Guion-Almeida (MFDGA, OMIM #610536). Recently, gross deletions and mutations in EFTUD2 were determined to cause syndromic e...

    Authors: Claudia Voigt, André Mégarbané, Kornelia Neveling, Johanna Christina Czeschik, Beate Albrecht, Bert Callewaert, Florian von Deimling, Andreas Hehr, Marie Falkenberg Smeland, Rainer König, Alma Kuechler, Carlo Marcelis, Maria Puiu, Willie Reardon, Hilde Monica Frostad Riise Stensland, Bernd Schweiger…

    Citation: Orphanet Journal of Rare Diseases 2013 8:110

    Content type: Research

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  45. Mutations in MECP2 are the main cause of Rett Syndrome. To date, no pathogenic synonymous MECP2 mutation has yet been identified. Here, we investigated a de novo synonymous variant c.48C>T (p.Gly16Gly) identified...

    Authors: Taimoor I Sheikh, Kirti Mittal, Mary J Willis and John B Vincent

    Citation: Orphanet Journal of Rare Diseases 2013 8:108

    Content type: Research

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  46. Almost every female classic galactosemia patient develops primary ovarian insufficiency (POI) as a diet-independent complication of the disease. This is a major concern for patients and their parents, and phys...

    Authors: Britt van Erven, Cynthia S Gubbels, Ron J van Golde, Gerard A Dunselman, Josien G Derhaag, Guido de Wert, Joep P Geraedts, Annet M Bosch, Eileen P Treacy, Corrine K Welt, Gerard T Berry and M Estela Rubio-Gozalbo

    Citation: Orphanet Journal of Rare Diseases 2013 8:107

    Content type: Review

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