Published on in CHOP News
Improved and standardized variant curation guidelines will improve diagnostic accuracy for patients with mitochondrial disease evaluation.
Published on in CHOP News
CHOP’S Mitochondrial Medicine team helped bring this book for researchers and clinicians to life.
Published on in CHOP News
CHOP Researchers Discover New, Aggressive Form of Mitochondrial Disease.
Published on in CHOP News
The international prize is given each year to a scientist who has demonstrated outstanding achievement in research in the broad field of mitochondrial biology.
Published on in Health Tip of the Week
If your child has symptoms of an inherited condition or one that might be caused by a spontaneous gene mutation, your doctor may recommend genetic testing. Here's what you need to know.
Published on in CHOP News
New results in cell and animal studies suggest that a drug already used for a rare kidney disease could benefit patients with mitochondrial disorders.
Published on in Children's Doctor
Using the case of a 24-month-old African-American boy, Drs. Ganetzky and Goldstein discuss sideroblastic anemia and how it might be an indicator for multisystem mitochondrial disease.
Published on in Children's Doctor
Dr. Cunningham writes about when and why should a muscle biopsy be considered in the evaluation of mitochondrial disease, and how to obtain a muscle biopsy.
Published on in Children's Doctor
Dr. Marni Falk provides an overview of the field of mitochondrial medicine and the role of CHOP's Mitochondrial Medicine Frontier Program in advancing research and care.
Published on in Children's Doctor
The case of a 5-year-old patient is used to explain the importance of obtaining an accurate genetic diagnosis for mitochondrial diseases, properly explaining the testing process to families, and providing counseling.