Niemann-Pick Diseases Type A and B

  Melissa Wasserstein, MD, from the Children’s Hospital at Montefiore, talks about Acid Sphingomyelinase Deficiency (ASMD), also known as Niemann-Pick Diseases type A or type B. ASMD is a genetic disorder caused by mutations in the SMPD1 gene that encodes for ...

Is it Gaucher or Niemann-Pick Disease?

  Petra Oliva, PhD of Archimed Life Science explains the value of testing for both Gaucher disease and Neimann-Pick disease in persons suspected of having one of those rare conditions. Gaucher disease is a rare lysosomal storage disorder due to a deficiency in...

Morquio Syndrome Type A Overview

  Barbara Burton, MD of Lurie Children’s Hospital of Chicago explains Morquio syndrome type A, a rare lysosomal storage disorder. Morquio syndrome type A, or mucopolysaccharidosis (MPS) IVA, is due to a mutation in the GALNS gene that leads to a deficiency in the...

Sickle Cell Disease Explained

  Farzana Sayani, MD, Assistant Professor of Medicine at the Hospital of the University of Pennsylvania explains the pathophysiology of sickle cell disease. Sickle cell disease is an inherited blood disorder in which the red blood cells are abnormally sickle...

Farber Syndrome Explained

  John Mitchell, MD, pediatric endocrinologist at Montreal Children’s Hospital and McGill University explains the pathophysiology, symptoms, and treatment options for Farber disease. Farber disease is a rare lysosomal disorder due to mutations of the ASAH1 gene....

Latest Results from the Morquio A Registry Study (MARS)

  Barbara Burton, MD of Lurie Children’s Hospital of Chicago discusses the latest results from the Morquio A Registry Study (MARS). The registry data shows that persons with Morquio syndrome type A who are taking enzyme replacement therapy (ERT) experience...
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