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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

Programs & Conditions:

Bicuspid Aortic Valve Program

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

Newborn Screening for Mucopolysaccharidosis Type II in Illinois: An Update
Int J Neonatal Screen6 (3): 73
Case report: A case of Norrie disease due to deletion of the entire coding region of NDP gene
Am J Ophthalmol Case Rep23101151
Pharmacokinetic, pharmacodynamic, and immunogenic rationale for optimal dosing of pegvaliase, a PEGylated bacterial enzyme, in adult patients with phenylketonuria
Clin Transl Sci .101111/cts.13043
Consensus recommendations for the classification and long-term follow up of infants who screen positive for Krabbe Disease
Mol Genet MetabS1096-7192(21)00083-4
Long-term preservation of intellectual functioning in sapropterin-treated infants and young children with phenylketonuria: A seven-year analysis
Mol Genet Metab132 (2): 119-227

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