CHOC Pediatrica
News and Information for Pediatric Healthcare Professionals
The work of a CHOC metabolic disorders specialist and is highlighted in a recent Science magazine article. The article hinges on Dr. Raymond Wang’s work to help a patient with a rare condition called Niemann-Pic Type C, a condition that causes cholesterol to accumulate in the brain, lungs, liver and spleen, leading to deterioration and […]
CHOC metabolic disorders division has discovered a previously unreported condition that could provide answers for parents of children experiencing unexplained liver failure. Led by Dr. Jose Abdenur, the division’s medical director, the team has coined the genetic condition Mitochondrial Transcription Factor A (TFAM) deficiency and has published its findings this month in the journal Molecular […]
CHOC Metabolic Disorders Division specializes in diagnosing rare conditions that require hours of unraveling symptoms.
