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Our team is working on a study to better understand neurological problems, including seizures and developmental delays, that occur in children with hyperinsulinism, including HI/HA syndrome, and type 1 diabetes mellitus.
Study focusing on non-invasive MRI procedures to measure biological activity within leg muscles of individuals, including both healthy volunteers and those with mitochondrial disease.
The primary goal of this research study is to learn if patients with autosomal recessive polycystic kidney disease (ARPKD) are at risk for brain aneurysms or cardiovascular abnormalities.
CTX is typically a highly progressive disease, with case reports of symptoms that first appear at any time from birth through adulthood and then worsen over time.
We are asking teens with autism between the ages of 16-21 who have expressed interest in learning how to drive or have received their learner's permit in the past 3 months, and their parent/primary caregiver to participate in an interview study.
We are looking for teens with CHD who are 15 to 19 years old and have a learner’s permit or valid driver’s license, or interest in obtaining a learner’s permit or driver’s license and their parent/legal guardian. The study will be conducted remotely.
Healthy control children are needed to help participate in a study on Immunometabolic Dysregulation.
A research study about bone health in children and adolescents at high risk of suffering a broken bone.
This study aims to collect data from patients seen at CHOP, CHOP's 3550 Market St. primary care location, Penn, or from the surrounding communities.