Pulmonary arterial hypertension (PAH) is a serious disease of the arteries connecting the lungs to the heart (the pulmonary arteries).
Type 1 Gaucher disease, an inherited autosomal recessive disorder, is the most common disease among all inherited glycosphingolipid storage disorders, affecting approximately 7,000 patients worldwide.
Dupuytren's disease is a common and disabling fibroproliferative condition of the hand, which may progress slowly over time to Dupuytren's contracture.
Peyronie’s disease is a localised connective tissue disorder characterised by changes in collagen composition in the tunica albuginea.
Niemann-Pick type C disease is a rare genetic lysosomal storage disorder that causes severe, progressive neurological symptoms.
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