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Genome Sequencing of Rare Disease Patients Through the Korean Regional Rare Disease Diagnostic Support Program. [PDF]

open access: yesHum Mutat
Khang R   +25 more
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Rare disease surveillance

Journal of Paediatrics and Child Health, 1994
AbstractRare diseases in children account for disproportionate morbidity and mortality and are particularly demanding of both families and health resources. Surveillance may provide data on their epidemiology, aetiology, management and outcome and on the support requirements of affected children.
E J, Elliott, K G, Chant
openaire   +2 more sources

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 ...
Baldovino, Simone   +3 more
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

Rare Diseases

2015
Gaucher disease - Niemann–Pick disease - Castleman disease - Kikuchi disease - The porphyrias - Retroperitoneal fibrosis - Langerhans cell histiocytosis ...
Drew Provan   +3 more
  +4 more sources

Rare Diseases

Neurology Now, 2012
Rare diseases or also commonly known as orphan diseases are devastating for the person dealing with them, but also for the entire family. They are emotionally difficult to deal with, but also a huge financial burden for families because they require a lot of treatments and medication. The two rare diseases that will be profiled have no cure.
openaire   +2 more sources

Rare disease

Russian Otorhinolaryngology, 2016
Due to specific features of polyclinics operation, little attention is paid to rare diseases. Nevertheless, these diseases are widely studied and should provoke apprehensive attitude of a doctor, and if necessary, become a reason of the patient for referring to a relevant specialist.
openaire   +1 more source

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