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The journal publishes high-quality reviews on specific rare diseases. In addition, the journal may consider articles on clinical trial outcome reports, either positive or negative, and articles on public Orphanet Journal of Rare Diseases Review Open Access Transposition of the great arteries Paula Martins* and Eduardo Castela Address: Serviço de Cardiologia Pediátrica, Hospital Pediátrico de Orphanet Journal of Rare Diseases Review Open Access Cri du Chat syndrome Paola Cerruti Mainardi* Address: Paediatrics Department and Genetics Unit, S.Andrea Hospital, Vercelli, Italy Orphanet Journal of Rare Diseases Review Open Access Hypersensitivity pneumonitis Yves Lacasse* and Yvon Cormier Address: Centre de Pneumologie, Université Laval, Hôpital Laval, 2725 Chemin Ste-Foy, Ste-Foy, Quebec, G1V 4G5, Canada Email: Yves Lacasse* - yves.laca sse@med.ulaval.ca; Yvon Cormier - Yvon.Cormier@med.ulaval.ca * Corresponding author Orphanet Journal of Rare Diseases Publication Information. Title Open Access pathways permitted by this journal's policy are listed below by article version. Orphanet Journal of Rare Diseases Review Open Access Central core disease Heinz Jungbluth* Address: Evelina Children's Hospital, Department of Paediatric Neurology, St. Thomas' Hospital, London, UK Email: Heinz Jungbluth* - He inz.Jungbluth@gstt.nhs.uk * Corresponding author Abstract Volume 10, issue 1 articles listing for Orphanet Journal of Rare Diseases Orphanet Journal of Rare Diseases Review Open Access Multi-minicore Disease Heinz Jungbluth* Address: Department of Paediatric Neurology, Evelina Children's Hospital, St. Thomas' Hospital, Lambeth The ISSN of Orphanet Journal of Rare Diseases is 1750-1172 . An ISSN is an 8-digit code used to identify newspapers, journals, magazines and periodicals of all kinds and on all media–print and electronic. Orphanet Journal of Rare Diseases Key Factor Analysis Orphanet Journal of Rare DiseasesのISSNは 1750-1172 です。 Objective The aim of this scoping review was to overview the cost-of-illness studies conducted in rare diseases. Methods We searched papers published in English in PubMed from January 2007 to December 2018.

Orphanet Journal of Rare Diseases Review Open Access Biliary atresia Christophe Chardot* Address: Service de chirurgie pédiatrique, Hôpital Cantonal Univ ersitaire de Genève, Rue Willi Donzé 6 Orphanet journal of rare diseases Abbreviation. Orphanet J Rare Dis. ISSN: 1750-1172 (Online) Other Information: Country: England Publisher: [London] : BioMed Orphanet Journal of Rare Diseases Review Open Access Alpha-mannosidosis Dag Malm*1 and Øivind Nilssen2,3 Address: 1Department of Gastroenterology, University Hospital of North Norway, NO-9038, Norway, 2Department of Medical Genetics, Orphanet Journal of Rare Diseases Review Open Access The Exstrophy-epispadias complex Anne-Karoline Ebert*1, Heiko Reutter2,3, Michael Ludwig4 and Wolfgang H Rösch1 Orphanet Journal of Rare Diseases Research Open Access Screening for Alpha 1 antitrypsin deficiency in Tunisian subjects with obstructive lung disease: a feasibility report Sabri Denden1, Michele Zorzetto*2, Fethi Amri3, Jalel Knani4, Stefania Ottaviani 2, Roberta Scabini2, Marina Gorrini2, Ilaria Ferrarotti , 2017-01-18 · Clinical practice guidelines (CPGs) for rare diseases (RDs) are scarce, may be difficult to identify through Internet searches and may vary in quality depending on the source and methodology used. In order to contribute to the improvement of the diagnosis, treatment and care of patients, Orphanet (www.orpha.net) has set up a procedure for the selection, quality evaluation and dissemination of Orphanet Journal of Rare Diseases Review Open Access Anorectal malformations Marc A Levitt* and Alberto Peña Address: Department of Pediatric Surgery, Cincinnati Children's Hospital, University of Cincinnati, Cincinnati, Ohio 45229 USA Email: Marc A Levitt* - marc.levitt@cchmc.o rg; Alberto Peña - alberto.pena@cchmc.org * Corresponding author Orphanet Journal of Rare Diseases Review Open Access Hereditary sensory neuropathy type I Michaela Auer-Grumbach1,2 Address: 1Institute of Human Genetics, Graz, Austria and 2Department of Internal Medicine, Medical University of Graz, Austria Email: Michaela Auer-Gru mbach - Michaela.Auer-Grumbach@klinikum-graz.at Abstract El Metric de Impacto 2019 de Orphanet Journal of Rare Diseases es 3.710 (Datos más recientes en 2020). En comparación con el Metric de Impacto histórico, el Metric de Impacto 2019 de Orphanet Journal of Rare Diseases cayó un 1.07 %. El cuartil del Metric de impacto de Orphanet Journal of Rare Diseases es Q1. Orphanet Journal of Rare Diseases is an open access, peer-reviewed online journal that encompasses all aspects of rare diseases and orphan drugs.

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EU har upprättat en databas, Orphanet, som knyter ihop över 6 000 sjukdomar och finns på sju språk. I slutet av 2013 hade den identifierat 2 Genetic Diseases, Inborn: Diseases that are caused by genetic mutations present during embryo or fetal development, Orphanet J Rare Dis 2017:12(1):28. Besöksförbud och begränsningar för medföljare. 03 april 2020, 08:53.

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An ISSN is an 8-digit code used to identify newspapers, journals, magazines and periodicals of all kinds and on all media–print and electronic. Orphanet Journal of Rare Diseases Key Factor Analysis Orphanet Journal of Rare DiseasesのISSNは 1750-1172 です。 Objective The aim of this scoping review was to overview the cost-of-illness studies conducted in rare diseases. Methods We searched papers published in English in PubMed from January 2007 to December 2018.

av MG till startsidan Sök — Niemann-Pick disease type C. Orphanet journal of rare diseases 2010; 5: 16. Medicinsk expert/granskare/redaktion. Medicinsk expert som skrivit Orphanet journal of rare diseases, 13(1), 3. doi: 10.1186/s13023-017-0752-8.
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Orphanet J Rare Dis. ISSN: 1750-1172 (Online) Other Information: Country: England Publisher: [London] : BioMed Orphanet Journal of Rare Diseases Review Open Access Alpha-mannosidosis Dag Malm*1 and Øivind Nilssen2,3 Address: 1Department of Gastroenterology, University Hospital of North Norway, NO-9038, Norway, 2Department of Medical Genetics, Orphanet Journal of Rare Diseases Review Open Access The Exstrophy-epispadias complex Anne-Karoline Ebert*1, Heiko Reutter2,3, Michael Ludwig4 and Wolfgang H Rösch1 Orphanet Journal of Rare Diseases Research Open Access Screening for Alpha 1 antitrypsin deficiency in Tunisian subjects with obstructive lung disease: a feasibility report Sabri Denden1, Michele Zorzetto*2, Fethi Amri3, Jalel Knani4, Stefania Ottaviani 2, Roberta Scabini2, Marina Gorrini2, Ilaria Ferrarotti , 2017-01-18 · Clinical practice guidelines (CPGs) for rare diseases (RDs) are scarce, may be difficult to identify through Internet searches and may vary in quality depending on the source and methodology used. In order to contribute to the improvement of the diagnosis, treatment and care of patients, Orphanet (www.orpha.net) has set up a procedure for the selection, quality evaluation and dissemination of Orphanet Journal of Rare Diseases Review Open Access Anorectal malformations Marc A Levitt* and Alberto Peña Address: Department of Pediatric Surgery, Cincinnati Children's Hospital, University of Cincinnati, Cincinnati, Ohio 45229 USA Email: Marc A Levitt* - marc.levitt@cchmc.o rg; Alberto Peña - alberto.pena@cchmc.org * Corresponding author Orphanet Journal of Rare Diseases Review Open Access Hereditary sensory neuropathy type I Michaela Auer-Grumbach1,2 Address: 1Institute of Human Genetics, Graz, Austria and 2Department of Internal Medicine, Medical University of Graz, Austria Email: Michaela Auer-Gru mbach - Michaela.Auer-Grumbach@klinikum-graz.at Abstract El Metric de Impacto 2019 de Orphanet Journal of Rare Diseases es 3.710 (Datos más recientes en 2020). En comparación con el Metric de Impacto histórico, el Metric de Impacto 2019 de Orphanet Journal of Rare Diseases cayó un 1.07 %. El cuartil del Metric de impacto de Orphanet Journal of Rare Diseases es Q1. Orphanet Journal of Rare Diseases is an open access, peer-reviewed online journal that encompasses all aspects of rare diseases and orphan drugs.

Methods We searched papers published in English in PubMed from January 2007 to December 2018. We selected cost-of-illness studies on rare diseases defined as those with prevalence lower than 5 per 10,000 cases. Studies were selected by one researcher and verified by a second Orphanet Journal of Rare Diseases Ausgabe 1/2019 Inhaltsverzeichnis ( 293 Artikel ) 01.12.2019 | Review | Ausgabe 1/2019 Open Orphanet Journal of Rare Diseases This Provisional PDF corresponds to the article as it appeared upon acceptance.
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This is a picture of how Dercums Disease attaches itself to the Orphanet journal of rare diseases biomed central review plummer-vinson syndrome One of the most important clinical aspects of Plummer-Vinson syndrome is Vit B12 status hos barn/ungdomar med CF: (Maqbool et al, J Pediatr Gastroenterol Nutr 2014) Huemer et al, Orphanet Journal of rare disease 2014. Orphanet journal of rare diseases. 2012;7:51. 20.

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El cuartil del Metric de impacto de Orphanet Journal of Rare Diseases es Q1. Orphanet Journal of Rare Diseases is an open access, peer-reviewed online journal that encompasses all aspects of rare diseases and orphan drugs. The journal welcomes high quality review articles encompassing all aspects of diagnosis, clinical description, clinical work-up and management as well as aetiopathogenesis, *epidemiology, and genetic Please note that this is just a selection of Orphanet's rare disease epidemiological data. Currently 6077 rare diseases are Orphanet Journal of Rare Diseases Case Report Open Access Successful bone marrow transplantation in a patient with DNA ligase IV deficiency and bone marrow failure Bernd Gruhn* 1, Joerg Seidel , Felix Zintl1, Raymonda Varon2, Holger Tönnies2, Heidemarie Neitzel2, Astrid Bechtold3,4, Holger Hoehn3 and Detlev Schindler3 A peer-reviewed, open access journal in rare diseases & orphan drugs. Orphanet Journal of Rare Diseases is an open access, peer-reviewed online journal that encompasses all aspects of rare diseases, including genetic diseases, “To what degree are orphan drugs patient-centered?

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(mesothelium) of the pleural and peritoneal cavities Orphanet Journal of Rare Diseases, 1750-1172. Tidskrift. Översikt · Forskningsoutput. Fler filtreringsmöjligheter. Fler filtreringsmöjligheter. Författare. Training medical students on rare disorders-article.

December 2020, issue 2. French Recommendations for the Management of Systemic Necrotizing Vasculitides (polyarteritis nodosa and ANCA-associated vasculitides) This is a supplement. December 2020, issue 1. November 2020, issue 1. 10th European Conference on Rare Diseases & Orphan Products (ECRD 2020) This is a supplement. RarERN Path: a methodology towards the optimisation of patients’ care pathways in rare and complex diseases developed within the European Reference Networks Authors (first, second and last of 12) Rosaria Talarico; Sara Cannizzo; Giuseppe Turchetti; Content type: Research; Open Access; Published: 14 December 2020; Article: 347 Articles from Orphanet Journal of Rare Diseases are provided here courtesy of BioMed Central Se hela listan på ojrd.biomedcentral.com Encompassing all aspects of rare diseases and orphan drugs, Orphanet Journal of Rare Diseases features high quality reviews and original articles in 2006-10-11 · Rare cases present with macular atrophy, salt-and-pepper retinopathy, and vascular attenuation. • Abetalipoproteinemia (Bassen Korntzweig disease) is characterized by progressive ataxia, steatorrhea, reduction of plasma lipids and pigmentary retinopathy that resembles retinitis punctata albescens in some cases.