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  1. Content type: Review

    IDeAl (Integrated designs and analysis of small population clinical trials) is an EU funded project developing new statistical design and analysis methodologies for clinical trials in small population groups. ...

    Authors: Ralf-Dieter Hilgers, Malgorzata Bogdan, Carl-Fredrik Burman, Holger Dette, Mats Karlsson, Franz König, Christoph Male, France Mentré, Geert Molenberghs and Stephen Senn

    Citation: Orphanet Journal of Rare Diseases 2018 13:77

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  2. Content type: Review

    Naxos disease, first described by Dr. Nikos Protonotarios and colleagues on the island of Naxos, Greece, is a special form of arrhythmogenic right ventricular dysplasia (ARVD). It is an inherited condition wit...

    Authors: Guo-Liang Li, Ardan M. Saguner and Guy H. Fontaine

    Citation: Orphanet Journal of Rare Diseases 2018 13:74

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  3. Content type: Research

    Fibrous dysplasia of the proximal femur presents with heterogeneous clinical manifestations dictating different surgical approaches. However, to date there are no clear recommendations to guide the choice of s...

    Authors: Bas C. J. Majoor, Andreas Leithner, Michiel A. J. van de Sande, Natasha M. Appelman-Dijkstra, Neveen A. T. Hamdy and P. D. Sander Dijkstra

    Citation: Orphanet Journal of Rare Diseases 2018 13:72

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  4. Content type: Review

    GNE myopathy is an ultra-rare autosomal recessive disease, which starts as a distal muscle weakness and ultimately leads to a wheelchair bound state. Molecular research and animal modelling significantly moved...

    Authors: Oksana Pogoryelova, José Andrés González Coraspe, Nikoletta Nikolenko, Hanns Lochmüller and Andreas Roos

    Citation: Orphanet Journal of Rare Diseases 2018 13:70

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  5. Content type: Letter to the Editor

    Vitamin A intoxication is a rare cause of liver disease, but the risk increases in patients with underlying liver dysfunction. We present a patient with Shwachman-Diamond Syndrome who developed liver fibrosis,...

    Authors: Giorgia Bucciol, David Cassiman, Tania Roskams, Marleen Renard, Ilse Hoffman, Peter Witters, Rik Schrijvers, Heidi Schaballie, Barbara Bosch, Maria Caterina Putti, Olivier Gheysens, Noel Knops, Marc Gewillig, Djalila Mekahli, Jacques Pirenne and Isabelle Meyts

    Citation: Orphanet Journal of Rare Diseases 2018 13:69

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  6. Content type: Research

    Epilepsy is a heterogeneous disease with a broad phenotypic spectrum and diverse genotypes. A significant proportion of epilepsies has a genetic aetiology.

    Authors: David Staněk, Petra Laššuthová, Katalin Štěrbová, Markéta Vlčková, Jana Neupauerová, Marcela Krůtová and Pavel Seeman

    Citation: Orphanet Journal of Rare Diseases 2018 13:71

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  7. Content type: Research

    A Multi Criteria Decision Analysis (MCDA) technique was adopted to reveal the preferences of the Appraisal Body of the Polish HTA agency towards orphan drugs (OMPs).

    Authors: Katarzyna Kolasa, Krzysztof Miroslaw Zwolinski, Vladimir Zah, Zoltán Kaló and Tadeusz Lewandowski

    Citation: Orphanet Journal of Rare Diseases 2018 13:67

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  8. Content type: Position statement

    In spite of recent major advances in the understanding and treatment of inhibitor development in patients with haemophilia, multidisciplinary management of many of these patients remains suboptimal and highly ...

    Authors: P. L. F. Giangrande, C. Hermans, B. O’Mahony, P. de Kleijn, M. Bedford, A. Batorova, J. Blatný and K. Jansone

    Citation: Orphanet Journal of Rare Diseases 2018 13:66

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  9. Content type: Research

    Fabry disease is frequently characterized by gastrointestinal symptoms, including diarrhea. Migalastat is an orally-administered small molecule approved to treat the symptoms of Fabry disease in patients with ...

    Authors: Raphael Schiffmann, Daniel G. Bichet, Ana Jovanovic, Derralynn A. Hughes, Roberto Giugliani, Ulla Feldt-Rasmussen, Suma P. Shankar, Laura Barisoni, Robert B. Colvin, J. Charles Jennette, Fred Holdbrook, Andrew Mulberg, Jeffrey P. Castelli, Nina Skuban, Jay A. Barth and Kathleen Nicholls

    Citation: Orphanet Journal of Rare Diseases 2018 13:68

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  10. Content type: Review

    Adenosine deaminase (ADA) deficiency leads to an accumulation of toxic purine degradation by-products, most potently affecting lymphocytes, leading to adenosine deaminase-deficient severe combined immunodefici...

    Authors: Aisling M. Flinn and Andrew R. Gennery

    Citation: Orphanet Journal of Rare Diseases 2018 13:65

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  11. Content type: Review

    Rare diseases can lead to a significant reduction in quality of life for patients and their families. Ensuring the patients voice is central to clinical decision making is key to delivering, evaluating and und...

    Authors: Anita Slade, Fatima Isa, Derek Kyte, Tanya Pankhurst, Larissa Kerecuk, James Ferguson, Graham Lipkin and Melanie Calvert

    Citation: Orphanet Journal of Rare Diseases 2018 13:61

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  12. Content type: Research

    Optic pathway gliomas (OPGs) are present in 20% of children with neurofibromatosis 1 (NF1) but are less frequently observed in adults. Our goal was to determine the natural history of OPGs in children and adul...

    Authors: Laura Sellmer, Said Farschtschi, Marco Marangoni, Manraj K. S. Heran, Patricia Birch, Ralph Wenzel, Victor-Felix Mautner and Jan M. Friedman

    Citation: Orphanet Journal of Rare Diseases 2018 13:62

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  13. Content type: Research

    Prader-Willi syndrome (PWS) is the most common genetic human obesity syndrome and is characterized by hypotonia, endocrine disturbances, hyperphagia, obesity and mild mental retardation. Oral abnormalities, su...

    Authors: Ronnaug Saeves, Finn Strøm, Leiv Sandvik and Hilde Nordgarden

    Citation: Orphanet Journal of Rare Diseases 2018 13:64

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  14. Content type: Research

    Infants and children with syndromic craniosynostosis (SCS), such as Apert-, Crouzon- or Pfeiffer syndrome, are prone to sleep disordered breathing (SDB) including obstructive sleep apnea and upper airway resis...

    Authors: Silvia Müller-Hagedorn, Cornelia Wiechers, Jörg Arand, Wolfgang Buchenau, Margit Bacher, Michael Krimmel, Siegmar Reinert and Christian F. Poets

    Citation: Orphanet Journal of Rare Diseases 2018 13:63

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  15. Content type: Research

    Cryopyrin-associated periodic syndrome (CAPS) is a rare disease. Knowledge on the quality of life (QoL) and the disease’s societal impact is limited. Canakinumab is used in increasing frequency for the treatme...

    Authors: Catharina M. Mulders-Manders, Tim A. Kanters, Paul L. A. van Daele, Esther Hoppenreijs, G. Elizabeth Legger, Jan A. M. van Laar, Anna Simon and Leona Hakkaart-van Roijen

    Citation: Orphanet Journal of Rare Diseases 2018 13:59

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  16. Content type: Research

    Pulmonary hemosiderosis is a rare and complex disease in children. A previous study from the French RespiRare® network led to two important findings: 20% of the children presented with both pulmonary hemosider...

    Authors: Aurelia Alimi, Jessica Taytard, Rola Abou Taam, Véronique Houdouin, Aude Forgeron, Marc Lubrano Lavadera, Pierrick Cros, Isabelle Gibertini, Jocelyne Derelle, Antoine Deschildre, Caroline Thumerelle, Ralph Epaud, Philippe Reix, Michael Fayon, Sylvie Roullaud, Françoise Troussier…

    Citation: Orphanet Journal of Rare Diseases 2018 13:60

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  17. Content type: Research

    Lysosomal α-glucosidase deficiency (Pompe disease) not only leads to glycogen accumulation in skeletal muscle, but also in the cerebral arteries. Dolichoectasia of the basilar artery (BA) has been frequently r...

    Authors: Ole Hensel, Ilka Schneider, Mathias Wieprecht, Torsten Kraya and Stephan Zierz

    Citation: Orphanet Journal of Rare Diseases 2018 13:57

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  18. Content type: Position statement

    Epidermal necrolysis (EN) encompasses Stevens-Johnson syndrome (SJS, < 10% of the skin affected), Lyell syndrome (toxic epidermal necrolysis, TEN, with ≥30% of the skin affected) and an overlap syndrome (10 to...

    Authors: Saskia Ingen-Housz-Oro, Tu-Anh Duong, Benoit Bensaid, Nathalia Bellon, Nicolas de Prost, Dévy Lu, Bénédicte Lebrun-Vignes, Julie Gueudry, Emilie Bequignon, Karim Zaghbib, Gérard Royer, Audrey Colin, Giao Do-Pham, Christine Bodemer, Nicolas Ortonne, Annick Barbaud…

    Citation: Orphanet Journal of Rare Diseases 2018 13:56

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  19. Content type: Research

    Infantile and late infantile neuronal ceroid lipofuscinoses (NCLs) are lysosomal storage diseases affecting the central nervous system (CNS). The infantile NCL (INCL) is caused by mutations in the PPT1 gene and l...

    Authors: Ni Sima, Rong Li, Wei Huang, Miao Xu, Jeanette Beers, Jizhong Zou, Steven Titus, Elizabeth A. Ottinger, Juan J. Marugan, Xing Xie and Wei Zheng

    Citation: Orphanet Journal of Rare Diseases 2018 13:54

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  20. Content type: Research

    Fabry disease is a multisystemic lysosomal storage disorder caused by the impairment of α-galactosidase A. The incidence of this rare disease is underestimated due to delayed diagnosis. Moreover, the managemen...

    Authors: Irene Vieitez, Olga Souto-Rodriguez, Lorena Fernandez-Mosquera, Beatriz San Millan, Susana Teijeira, Julian Fernandez-Martin, Felisa Martinez-Sanchez, Luis Jose Aldamiz-Echevarria, Monica Lopez-Rodriguez, Carmen Navarro and Saida Ortolano

    Citation: Orphanet Journal of Rare Diseases 2018 13:52

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  21. Content type: Research

    Hereditary angioedema with C1 inhibitor deficiency is a disabling, potentially fatal condition characterized by recurrent episodes of swelling. Self-treatment is recommended, in order to reduce admissions to t...

    Authors: Andrea Zanichelli, Giulia Maria Azin, Federico Cristina, Romualdo Vacchini and Teresa Caballero

    Citation: Orphanet Journal of Rare Diseases 2018 13:51

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  22. Content type: Research

    Autoantibodies against the smaller isoform of glutamate decarboxylase (GAD65Ab) reflect autoimmune etiologies in Type 1 diabetes (T1D) and several neurological disorders, including Stiff Person Syndrome (SPS)....

    Authors: Suvi Liimatainen, Jerome Honnorat, Sean J. Pittock, Andrew McKeon, Mario Manto, Jared R. Radtke and Christiane S. Hampe

    Citation: Orphanet Journal of Rare Diseases 2018 13:55

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  23. Content type: Review

    Niemann-Pick Type C (NPC) is a progressive and life limiting autosomal recessive disorder caused by mutations in either the NPC1 or NPC2 gene. Mutations in these genes are associated with abnormal endosomal-lysos...

    Authors: Tarekegn Geberhiwot, Alessandro Moro, Andrea Dardis, Uma Ramaswami, Sandra Sirrs, Mercedes Pineda Marfa, Marie T. Vanier, Mark Walterfang, Shaun Bolton, Charlotte Dawson, Bénédicte Héron, Miriam Stampfer, Jackie Imrie, Christian Hendriksz, Paul Gissen, Ellen Crushell…

    Citation: Orphanet Journal of Rare Diseases 2018 13:50

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  24. Content type: Research

    Strimvelis (autologous CD34+ cells transduced to express adenosine deaminase [ADA]) is the first ex vivo stem cell gene therapy approved by the European Medicines Agency (EMA), indicated as a single treatment ...

    Authors: Heide Stirnadel-Farrant, Mahesh Kudari, Nadia Garman, Jessica Imrie, Bikramjit Chopra, Stefania Giannelli, Michela Gabaldo, Ambra Corti, Stefano Zancan, Alessandro Aiuti, Maria Pia Cicalese, Rohit Batta, Jonathan Appleby, Mario Davinelli and Pauline Ng

    Citation: Orphanet Journal of Rare Diseases 2018 13:49

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  25. Content type: Research

    The study aim was to verify the feasibility of a diagnostic algorithm with the evaluation of beta glucocerebrosidase (GBA) activity on dried blood spots (DBS) in screening high-risk Gaucher disease (GD) childr...

    Authors: Ke Lei, Yanxia Zhao, Lirong Sun, Hui Liang, Ronghua Luo, Xiaojing Sun, Yanling Tao, Lijun Chen, Lingling Zhang, Aimin Li, Fu Li and Hongfang Ding

    Citation: Orphanet Journal of Rare Diseases 2018 13:48

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  26. Content type: Research

    KARS encodes lysyl- transfer ribonucleic acid (tRNA) synthetase, which catalyzes the aminoacylation of tRNA-Lys in the cytoplasm and mitochondria. Eleven families/sporadic patients and 16 different mutations in K...

    Authors: Anna Ardissone, Davide Tonduti, Andrea Legati, Eleonora Lamantea, Rita Barone, Imen Dorboz, Odile Boespflug-Tanguy, Gabriella Nebbia, Marco Maggioni, Barbara Garavaglia, Isabella Moroni, Laura Farina, Anna Pichiecchio, Simona Orcesi, Luisa Chiapparini and Daniele Ghezzi

    Citation: Orphanet Journal of Rare Diseases 2018 13:45

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  27. Content type: Research

    Acitretin is the main retinoid used to treat severe inherited ichthyosis. Alternatives may be considered if it results ineffective or there are side-effects, or for women of childbearing age.

    Authors: Giuliana Onnis, Christine Chiaverini, Geoffroy Hickman, Isabelle Dreyfus, Judith Fischer, Emmanuelle Bourrat and Juliette Mazereeuw-Hautier

    Citation: Orphanet Journal of Rare Diseases 2018 13:46

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  28. Content type: Research

    Hajdu-Cheney syndrome (HCS) (#OMIM 102500) is a rare, autosomal dominant condition that presents in early childhood. It is caused by mutations in the terminal exon of NOTCH2, which encodes the transmembrane NOTCH...

    Authors: James F. H. Pittaway, Christopher Harrison, Yumie Rhee, Muriel Holder-Espinasse, Alan E. Fryer, Tim Cundy, William M. Drake and Melita D. Irving

    Citation: Orphanet Journal of Rare Diseases 2018 13:47

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  29. Content type: Position statement

    The reversal of the Rett syndrome disease process in the Mecp2 mouse model of Guy et al. (2007) has motivated families and researchers to work on this condition. The reversibility in adult mice suggests that t...

    Authors: Angus John Clarke and Ana Paula Abdala Sheikh

    Citation: Orphanet Journal of Rare Diseases 2018 13:44

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  30. Content type: Research

    Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disorder characterized by the development of numerous benign tumors. Renal angiomyolipoma (RAML) occur in up to 80% of TSC patients, which ...

    Authors: Yi Cai, Hao Guo, Wenda Wang, Hanzhong Li, Hao Sun, Bing Shi and Yushi Zhang

    Citation: Orphanet Journal of Rare Diseases 2018 13:43

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  31. Content type: Research

    Hermansky-Pudlak syndrome (HPS), a hereditary multisystem disorder with oculocutaneous albinism, may be caused by mutations in one of at least 10 separate genes. The HPS-2 subtype is distinguished by the prese...

    Authors: Meike Hengst, Lutz Naehrlich, Poornima Mahavadi, Joerg Grosse-Onnebrink, Suzanne Terheggen-Lagro, Lars Høsøien Skanke, Luise A. Schuch, Frank Brasch, Andreas Guenther, Simone Reu, Julia Ley-Zaporozhan and Matthias Griese

    Citation: Orphanet Journal of Rare Diseases 2018 13:42

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  32. Content type: Research

    Thoracic and abdominal aortic aneurysms and dissection often develop in hypertensive elderly patients. At higher risk are smokers and those who have a family history of aortic aneurysms. In most affected famil...

    Authors: Adel Shalata, Mohammad Mahroom, Dianna M. Milewicz, Gong Limin, Fadi Kassum, Khader Badarna, Nader Tarabeih, Nimmer Assy, Rona Fell, Hector Cohen, Munir Nashashibi, Alejandro Livoff, Muhammad Azab, George Habib, Dan Geiger, Omer Weissbrod…

    Citation: Orphanet Journal of Rare Diseases 2018 13:41

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  33. Content type: Letter to the Editor

    Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant disorder mainly due to a deletion of chromosome 17p11.2 including PMP22 (PMP22 Del HNPP). The prevalence of HNPP is estimat...

    Authors: Jong Eun Park, Seung-Jae Noh, Mijin Oh, Dae-Yeon Cho, So Young Kim and Chang-Seok Ki

    Citation: Orphanet Journal of Rare Diseases 2018 13:40

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  34. Content type: Review

    Pigmentary mosaicism is a term that describes varied patterns of pigmentation in the skin caused by genetic heterogeneity of the skin cells. In a substantial number of cases, pigmentary mosaicism is observed a...

    Authors: Anna Boye Kromann, Lilian Bomme Ousager, Inas Kamal Mohammad Ali, Nurcan Aydemir and Anette Bygum

    Citation: Orphanet Journal of Rare Diseases 2018 13:39

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  35. Content type: Review

    Taliglucerase alfa is an enzyme replacement therapy (ERT) approved for treatment of adult and paediatric patients with Type 1 Gaucher disease (GD) in several countries and the first plant cell–expressed recomb...

    Authors: Ari Zimran, Michael Wajnrajch, Betina Hernandez and Gregory M. Pastores

    Citation: Orphanet Journal of Rare Diseases 2018 13:36

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  36. Content type: Review

    To evaluate the feasibility of microRNAs (miR) in clinical use to fill in the gap of current methodology commonly used to test hearing impairment in MELAS patients.

    Authors: Arianna Di Stadio, Valentina Pegoraro, Laura Giaretta, Laura Dipietro, Roberta Marozzo and Corrado Angelini

    Citation: Orphanet Journal of Rare Diseases 2018 13:35

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  37. Content type: Research

    Sirolimus has been shown to be effective in patients with lymphangioleiomyomatosis (LAM). We wish to summarize our experience using sirolimus and its effectiveness in LAM patients.

    Authors: Yongzhong Zhan, Lisha Shen, Wenshuai Xu, Xiuxiu Wu, Weihong Zhang, Jun Wang, Xue Li, Yanli Yang, Xinlun Tian and Kai-Feng Xu

    Citation: Orphanet Journal of Rare Diseases 2018 13:34

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  38. Content type: Research

    Evaluation of the efficacy of oral cyclosporine A as a prophylactic agent in preventing second-eye involvement in Leber’s hereditary optic neuropathy (LHON) in a prospective, open-label, non-randomized, multic...

    Authors: Stéphanie Leruez, Christophe Verny, Dominique Bonneau, Vincent Procaccio, Guy Lenaers, Patrizia Amati-Bonneau, Pascal Reynier, Clarisse Scherer, Adriana Prundean, Christophe Orssaud, Xavier Zanlonghi, Marie-Bénédicte Rougier, Caroline Tilikete and Dan Miléa

    Citation: Orphanet Journal of Rare Diseases 2018 13:33

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  39. Content type: Research

    The PHARE-M care quality improvement program, modeled on the US Cystic Fibrosis Quality Improvement Program, was introduced at 14 cystic fibrosis centers (CFCs) in the French Cystic Fibrosis Network between 20...

    Authors: Dominique Pougheon Bertrand, Emmanuel Nowak, Clémence Dehillotte, Lydie Lemmonier and Gilles Rault

    Citation: Orphanet Journal of Rare Diseases 2018 13(Suppl 1):10

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    This article is part of a Supplement: Volume 13 Supplement 1

  40. Content type: Research

    In 2010, the time on the lung transplant waiting list in Nantes University Hospital (NUH) was 9.2 months, compared to a French national median of about 4 months. The NUH transplant unit performs both heart and...

    Authors: Isabelle Danner-Boucher, Véronique Loppinet, Aurore Boxus, Claire Dary, Anne Brigitte Lambert, Marine Prieur, Céline Vallet and Adrien Tissot

    Citation: Orphanet Journal of Rare Diseases 2018 13(Suppl 1):11

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    This article is part of a Supplement: Volume 13 Supplement 1

  41. Content type: Research

    The two pediatric cystic fibrosis centers (CFCs) in Paris (Robert Debré) and Nantes, France, have been developing therapeutic patient education (TPE) programs since 2006 and have been engaged in the pilot phas...

    Authors: Michele Gérardin, Anne Pesle, Dominique Pougheon-Bertrand, Pilar Léger, Céline Vallet, Tiphaine Bihouee and Valérie David

    Citation: Orphanet Journal of Rare Diseases 2018 13(Suppl 1):7

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    This article is part of a Supplement: Volume 13 Supplement 1

  42. Content type: Research

    Between 2002 and 2006 France launched a national cystic fibrois (CF) newborn screening program; organized a network of specialized CF care centers; and issued CF diagnostic and treatment standards. To continue...

    Authors: Kathryn A. Sabadosa, Marjorie M. Godfrey and Bruce C. Marshall

    Citation: Orphanet Journal of Rare Diseases 2018 13(Suppl 1):13

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    This article is part of a Supplement: Volume 13 Supplement 1

  43. Content type: Research

    The Cystic Fibrosis (CF) center in Roscoff (Brittany) has been involved in therapeutic education programs (TEP) since 2006 and took part in the pilot phase of the French quality improvement program (QIP) since...

    Authors: Krista Revert, Laurence Audran, Jocelyne Pengam, Pascal Lesne and Dominique Pougheon Bertrand

    Citation: Orphanet Journal of Rare Diseases 2018 13(Suppl 1):8

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    This article is part of a Supplement: Volume 13 Supplement 1