by Craig McCabe | May 10, 2023
Aimee Donald, MBChB, PhD, Pediatrician at Royal Manchester Children’s Hospital, and Professor at the University of Manchester, discusses the management of patients with Gaucher disease type 2. Gaucher disease is a rare lysosomal disorder due to reduced...
by James Radke, PhD and Craig McCabe | May 8, 2023
Brenna Bentley , MS, GCG, genetic counselor and patient research coordinator for the United MSD Foundation lists some of the more common symptoms observed in children with multiple sulfatase deficiency (MSD). MSD is a rare genetic disease due to mutations in...
by Craig McCabe and James Radke, PhD | May 8, 2023
Gerard Vockley, MD, PhD, Professor of Pediatrics and Human Genetics at the University of Pittsburgh, provides an overview of galactosemia. Galactosemia is a rare, metabolic disorder that affects an individual’s ability to metabolize galactose, which is...
by Craig McCabe | Apr 21, 2023
Alpha mannosidosis is a multisystemic, lysosomal disorder caused by a deficiency in the enzyme alpha-D-mannosidase that leads to an abnormal accumulation of glycoproteins that can damage various tissues and organs. The symptoms and severity of alpha...
by James Radke, PhD and Craig McCabe | Apr 19, 2023
MSD is a rare genetic disease due to mutations in the SUMF1 gene and absences of SUMF1 leads to the buildup of glycosaminoglycans in cells and organs. MSD is a progressive disease. There is no treatment currently available that targets the pathophysiology of this...
