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The burden of rare diseases

American Journal of Medical Genetics Part A, 2019
The subject of rare disease numbers is rife with misconceptions, not just in websites and other layman's literature, but also in the medical literature. Various websites mention numbers that are not validated by any solid data, while in turn the medical literature cites the aforementioned websites as sources, thus perpetuating a number of myths about ...
C. Ferreira
openaire   +3 more sources

Rare liver diseases are not rare in China

Liver International, 2022
AbstractRare diseases, also known as orphan diseases, are a group of diseases that affect a relatively small number of people. Low incidence rates, atypical symptoms, imperfect diagnosis criteria and few treatment options impose medical, psychological and financial stress on the local healthcare system.
Tingting Lv, Jidong Jia
openaire   +2 more sources

Genetic and Rare Diseases Information Center (GARD)

Medical Reference Services Quarterly, 2022
The Genetic and Rare Diseases Information Center (GARD) is a database dedicated to aiding anyone who may be seeking assistance and knowledge regarding rare diseases.
Amber Hoskins
semanticscholar   +1 more source

Progress, challenges and global approaches to rare diseases

Acta paediatrica, 2021
Rare diseases occur globally at every stage of life. Patients, families and caregivers have many unmet medical and social needs leading to extraordinary psychosocial and economic burdens.
S. Groft, M. Posada, D. Taruscio
semanticscholar   +1 more source

Applying artificial intelligence to rare diseases: a literature review highlighting lessons from Fabry disease

Orphanet Journal of Rare Diseases
Use of artificial intelligence (AI) in rare diseases has grown rapidly in recent years. In this review we have outlined the most common machine-learning and deep-learning methods currently being used to classify and analyse large amounts of data, such as
Dominique P. Germain   +3 more
semanticscholar   +1 more source

Rare Autoimmune Diseases

2010
Under the term "autoimmune diseases" are comprised a large number of disorders with variable clinical expression which have in common an autoimmune pathogenesis as defined by direct, indirect or circumstantial evidence. Autoimmune diseases may affect a single organ or may determine a multisystem involvement, and most of them cause significant and ...
Arrigo, Schieppati, Erica, Daina
openaire   +2 more sources

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