Barbara K. Burton, MD

Attending Physician, Genetics, Birth Defects & Metabolism 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

Population-Based Newborn Screening for Mucopolysaccharidosis Type II in Illinois: The First Year Experience
J Pediatr214165-167.e1
Long-term comparative effectiveness of pegvaliase versus standard of care comparators in adults with phenylketonuria
Mol Genet Metab128 (1-2): 92-101
Genetic variants in the KDM6B gene are associated with neurodevelopmental delays and dysmorphic features
Am J Med Genet A179 (7): 1276-1286
Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuria
Genet Med21 (8): 1851-1867
Correction: TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants
Genet Med21 (8): 1899

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