Barbara K. Burton, MD

Professor of Pediatrics (Genetics, Birth Defects, and Metabolism), Northwestern University Feinberg School of Medicine

Language: English

About Me

Clinical Interests: PKU and other metabolic disorders, lysosomal storage disorders, neurogenetic disorders, connective tissue disorders, MPS disorders, Morquio syndrome

Specialties, Programs & Conditions

Specialties:

Genetics, Birth Defects & Metabolism

Education & Training

Education: Northwestern University, 1973

Postgraduate Training: Children's Memorial Hospital, 1973-1977

Board Certifications: Medical Genetics, Clinical Biochemical Genetics, General Pediatrics

See Northwestern University Faculty Profile >

Research

Research Interests: Phenylketonuria; lysosomal storage disorders; inborn errors of metabolism

Northwestern Scholars Profile >

Publications

Effects of Triheptanoin (UX007) in Patients with Long-chain Fatty Acid Oxidation Disorders (LC-FAOD): Results from an Open-Label, Long-Term Extension Study
J Inherit Metab Dis
The Genetic Landscape and Epidemiology of Phenylketonuria
Am J Hum Genet107 (2): 234-250
Pegvaliase for the treatment of phenylketonuria: Results of the phase 2 dose-finding studies with long-term follow-up
Mol Genet Metab130 (4): 239-246
Executive function in phenylketonuria (PKU): Insights from the Behavior Rating Inventory of Executive Function (BRIEF) and a large sample of individuals with PKU
Neuropsychology34 (4): 456-466
Newborn Screening for Pompe Disease in Illinois: Experience with 684,290 Infants
Int J Neonatal Screen6 (4):

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