Dr. Wang and his team at CHOC are participating in a clinical trial of a drug intended to treat a rare pediatric disease called MPS IIIA.
CHOC receives $8 million to advance research for rare disorder
An $8 million gift from the Foundation of Caring will help CHOC advance research for a rare lysosomal storage disorder, Pompe Disease.
From the Nursing Frontline of the Batten Disease Battle
CHOC recently hit its second anniversary of the first Brineura infusion, a novel treatment for CLN2 disease, or late infantile Batten disease.
CHOC at forefront of treating Batten disease
Bringing hope to patients and families, CHOC is among a few hospitals in the country to offer treatment for Late Infantile Batten disease.
CHOC Metabolic Specialist Profiled in Science Magazine
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 Specialists Discover New Metabolic Condition
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 […]
