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Patient passports for rare diseases: results of a pilot study. [PDF]

open access: yesEur J Hum Genet
Balfour J   +7 more
europepmc   +1 more source

Rare diseases load through the study of a regional population. [PDF]

open access: yesPLoS Genet
Michel É   +12 more
europepmc   +1 more source

HTA Evidence in Rare Diseases: Just Rare or Also Special? [PDF]

open access: yesPharmacoeconomics
Basu A   +3 more
europepmc   +1 more source
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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

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

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 ...
openaire   +2 more sources

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