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Immunological Rare Diseases

2017
The immune system is delegated to defend the body from attacks from outside or inside. Many diseases can affect immune system reducing its ability to defend self or inducing an abnormal response against external or internal antigens. Rare diseases affecting immune system present some issue in common with other rare diseases and some peculiarities due ...
Simone, Baldovino   +3 more
openaire   +2 more sources

Gastric sarcoidosis: rare presentation of a rare disease

Acta Clinica Belgica, 2014
Gastrointestinal sarcoidosis is a rare form of extrapulmonary sarcoidosis. Most of the cases are represented by gastric involvement. We describe a patient with previous systemic sarcoidosis who presented with non-specific abdominal complaints. The workup showed the unusual combination of isolated active gastric sarcoidosis and quiescent activity of the
openaire   +3 more sources

Rare and Ultra Rare Diseases

Journal of Developing Drugs, 2012
In the last years, rare and ultra rare diseases have attracted worldwide more and more attention. However, there is no universal definition of a rare disease: In Japan the term “orphan disease” describes a condition with a prevalence of 2.5 cases per 10,000 population; in the US 7 cases per 10,000 population.
openaire   +1 more source

Drugs for rare diseases

Nursing, 2020
Kavitha S, Dalal, Mary Barna, Bridgeman
openaire   +2 more sources

Rare diseases in ophthalmology

Archivos de la Sociedad Española de Oftalmología (English Edition), 2022
J, Jiménez Benito   +3 more
openaire   +2 more sources

Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes

Genetics in Medicine, 2022
Christopher Oermann   +2 more
exaly  

Undiagnosed and Rare Diseases

Clinics in Perinatology, 2017
Robert M, Kliegman, Brett J, Bordini
openaire   +2 more sources

Deep learning for rare disease: A scoping review

Journal of Biomedical Informatics, 2022
James R Rogers   +2 more
exaly  

Rare variant contribution to human disease in 281,104 UK Biobank exomes

Nature, 2021
Glenda Lassi   +2 more
exaly  

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