Treating Phelan-McDermid Syndrome (PMS) Is Complicated

  Alex Kolevzon, MD, Professor of Psychiatry and Pediatrics at the Icahn School of Medicine at Mount Sinai, explains the pathophysiology of Phelan-McDermid syndrome and how it is current treated. Phelan-McDermid syndrome is genetic disorder and one of few known...

Type 1 Galactosemia Roundtable Discussion

« Prev1 / 1Next »Galactosemia Roundtable DiscussionGalactosemia Foundation OverviewGalactosemia Expert PerspectivesPatient AdvocacyGalactosemia Family Story: Allison and BrooksGalactosemia Family Story: Megan and AvaGalactosemia Family Story: David and...

Diagnosing Alpha Mannosidosis

  Barbara Burton, MD, Attending Physician, Genetics, Birth Defects & Metabolism, Ann & Robert H. Lurie Children’s Hospital of Chicago, discusses the diagnostic challenges often faced by alpha mannosidosis patients. Alpha mannosidosis is a multisystemic,...