Von Willebrand disease is one of the most prevalent blood disorders in the world.Bowman M, Hopman WM, Rapson D, Lillicrap D, James P. The prevalence of symptomatic von Willebrand...
Malignant hyperthermia is a sudden, severe onset of muscle rigidity, hypermetabolism, respiratory failure, and cardiovascular compromise in a patient in response to the anesthetic...
Hunter syndrome (also known as mucopolysaccharidosis II or MPS II) is a rare X-linked recessive lysosomal storage disorder with a significantly higher prevalence in...
Batten disease is a rare disease affecting the nervous system. Weak eyesight, seizures, slowed growth rate, delays in cognitive learning, motor skills disability, and...
MODY Diabetes
Maturity-onset diabetes of the young (MODY) is a non-insulin-dependent type of diabetes mellitus that doctors usually discover in young adults. MODY is mostly...
Chronic granulomatous disease (CGD) is a rare genetic condition where white blood cells, known as phagocytes, cannot effectively destroy certain bacteria and fungi. This...