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 ...

Diagnosing WHIM Syndrome

  David Dale, MD at the University of Washington Medical Center in Seattle, discusses some of the challenges in diagnosing WHIM syndrome. Individuals with WHIM syndrome have severe congenital neutropenia. In addition, because they also have profound white blood...

FDA Approves New Treatment for Hemophilia Patients

The U.S. Food and Drug Administration (FDA) has approved Sevenfact [coagulation factor VIIa (recombinant)-jncw] to treat and control of bleeding episodes that occur in persons 12 years of age and older with hemophilia A or B with inhibitors (neutralizing antibodies)....

WHIM Syndrome: Etiology and Diagnosis

  Philip M. Murphy, MD, Chief, Molecular Signaling Section, Laboratory of Molecular Immunology; Chief, Laboratory of Molecular Immunology, National Institute of Allergy and Infection, discusses the etiology and diagnosis of WHIM syndrome, a rare immunodeficiency...

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...
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