The Greenwood Genetic Center has designed a functional platform to assess the pathogenicity of variants of uncertain significance in IDUA identified by newborn screening for MPS I. With further ...

Bartter syndrome is a group of similar rare conditions that affect the kidneys. It's genetic, meaning it's caused by a problem with a gene. If you have this condition, too much salt and calcium ...

There are currently seven known different types of MPS disorders: MPS I (Hurler-Scheie syndrome), MPS II (Hunter syndrome), MPS III (Sanfilippo syndrome), MPS IV (Morquio syndrome), MPS VI ...