by Peter Ciszewski | Apr 15, 2020
The U.S. Food and Drug Administration (FDA) has approved Koselugo (selumetinib) for the treatment of patients, 2 years of age and older, who have neurofibromatosis type 1 (NF1) with inoperable plexiform neurofibromas. NFI is a genetic disorder due to mutations in the...
by Peter Ciszewski | Apr 14, 2020
Heather Lau, MD, Director of the Lysosomal Storage Disease Program at NYU Langone Health, provides an overview of how to manage a person with a Fabry disease during the current COVID-19 pandemic. Fabry disease an X-linked inherited disorder that results from...
by Peter Ciszewski | Apr 13, 2020
Heather Lau, MD, Director, Lysosomal Storage Disease Program and Associate Director, Division of Neurogenetics at NYU Langone Health, provides an overview of how to manage a person with a Pompe disease during the current COVID-19 pandemic. Pompe disease is a...
by Peter Ciszewski | Apr 10, 2020
Kirsty and Tony discuss living with WHIM syndrome, a rare, congenital primary immune disorder. The acronym WHIM stands for Warts, Hypogammaglobulinemia, Infections, and Myelokathexis. Myelokathexis refers to an abnormal retention of white blood cells in the...
by Peter Ciszewski | Apr 10, 2020
Heather Lau, MD, Director, Lysosomal Storage Disease Program and Associate Director, Division of Neurogenetics at NYU Langone Health, provides an overview of how to manage a person with a mucopolysaccharidosis (MPS) condition during the current COVID-19...
