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Orphanet

Known as: OJRD, Orpha.net, Orphanet J Rare Dis 
Orphanet is a European website providing information about orphan drugs and rare diseases. It contains content both for physicians and for patients… 
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Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2017
2017
Erratum zu: Langzeitergebnisse der Karotisendarteriektomie im Methodenvergleich bei asymptomatischer Karotisstenose
Der folgende Artikel fasst die aktuelle Studienlage zur Therapie der asymptomatischen Karotisstenose zusammen und diskutiert… 
2016
2016
Neuromuscular Imaging and Phenotypical Variation in Pompe Disease
markdownabstractPompe disease is a progressive metabolic myopathy. It is caused by a deficiency of the enzyme acid α-glucosidase… 
2015
2015
Anomalies dysimmunitaires et de la thrombophilie au cours des fausses couches spontanées et des insuffisances vasculo-placentaires : prévalence et prises en charge thérapeutiques (analyse descriptive…
Contexte : Les anomalies auto-immunes et de la thrombophilie sont des facteurs de risque connus de fausses couches spontanees… 
2014
2014
Impact of Cystic versus Cylindrical Types of Bronchiectasis on Pulmonary and Cardiac Functions
Background: The combination of the clinical features, HRCT score and echocardiographic evidence of pulmonary hypertension help… 
Review
2013
Review
2013
Genetic Implications in COPD. The Current Knowledge
Chronic Obstructive Pulmonary Disease (COPD) is a multifactorial disease in the pathogenesis of which contributes a variety of… 
Review
2013
Review
2013
Developments in Simulation Bronchoscopy Training
Flexible bronchoscopy is a common procedure. Training in bronchoscopy is a complex process involving learning technical skills… 
2012
2012
Prognostic Values of PET/CT Findings and Tumor/Patient Characteristics with Non-Small Cell Lung Cancer
Background/Aim: Although numerous prognostic factors have been described for non-small cell lung cancer (NSCLC), there is still a… 
2012
2012
Projet OrphaOnto - Première étape de l'ontologisation des bases de connaissances d'Orphanet
La premiere etape du projet ORPHAONTO comprend la construction d'une ontologie de domaine des maladies rares a partir de bases de… 
2004
2004
Benson's syndrome or Posterior Cortical Atrophy
Key-words Disease name and synonyms Definition / diagnostic criteria Epidemiology Genetic Etiology Abstract Benson's syndrome or… 
2003
2003
Adenine phosphoribosyltransferase deficiency
Key-words Disease name and synonyms Definition Excluded diseases Diagnosis criteria Differential diagnosis Prevalence Molecular… 
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