Tag Archives: rare diseases
Compounded medication for patients with rare diseases
Pharmaceutical compounding is the preparation of unlicensed medicines in order to meet specific patient needs that do not have a licensed (commercial) medicine available on the market. Especially for patients with rare diseases it is complementary when
International study of parents’ experiences when their baby was diagnosed with a limb difference
Dysmelia is a group of rare diseases involving limb differences. Rare diseases are those which affect less than 1 in 2000 people, but around 8000 rare diseases exist altogether and over 50 million people in the USA
Rare disease day; 500 years ago
A rare disease is a life-threatening or chronically debilitating condition with a very low prevalence. Several institutions such as Food and Drug Administration (FDA), European Medical Agency (EMA) and Therapeutic Goods Administration (TGA) have put in place
Understanding the rare disease alkaptonuria: the role of oxidative stress, inflammation and amyloidosis
Alkaptonuria (AKU) is an ultra-rare disease that was recognized among the first inborn errors of metabolism. In AKU, an altered activity of the enzyme homogentisate 1,2-dioxygenase (HGD) occurring upon gene mutation lead to a defective metabolism of
