A young European royal has died due to a rare genetic disorder at the age of 22 ... an emotional intelligence and compassion that were off the charts, a sense of justice, fairness and decency ...
What Are Inherited Metabolic Disorders? Inherited metabolic disorders are genetic conditions that result in metabolism problems. Most people with inherited metabolic disorders have a defective ...
A federal advisory committee that provides guidance on which rare diseases newborns should be screened for has been dissolved ...
Further genetic testing would show that Sophie has one of a group of rare conditions called CODE (congenital diarrhea and enteropathies) that disrupts the function of cells in the intestine, causing ...