BarbaraKayBurtonMD
Medical Genetics • Chicago, ILClinical Biochemical Genetics, Clinical Genetics
Professor in Pediatrics, Northwestern University Medical School
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Office
2300 Childrens Plaza
Chicago, IL 60614Phone+1 773-880-4462Fax+1 773-929-9565
Education & Training
McGaw Medical Center of Northwestern UniversityResidency, Pediatrics, 1973 - 1975- Northwestern University The Feinberg School of MedicineClass of 1973
Certifications & Licensure
IL State Medical License 1975 - 2026
NC State Medical License 1977 - 1990- American Board of Medical Genetics and Genomics Clinical Biochemical Genetics
- American Board of Medical Genetics and Genomics Clinical Genetics
- American Board of Pediatrics Pediatrics
Awards, Honors, & Recognition
- Super Doctor SuperDoctors.com
- Top MD Consumers Checkbook
Clinical Trials
- Human Heterologous Liver Cells for Infusion in Children With Urea Cycle Disorders Start of enrollment: 2010 Dec 01
- An Open-Label Phase 3 Study of BMN 165 for Adults With PKU Not Previously Treated w/ BMN 165 Start of enrollment: 2013 May 01
- A Study of UX007 (Triheptanoin) in Participants With Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD) Start of enrollment: 2014 Feb 06
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Publications & Presentations
PubMed
- Phenylalanine hydroxylase deficiency diagnosis and management: A 2023 evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG).Wendy E Smith, Susan A Berry, Kaitlyn Bloom, Christine Brown, Barbara K Burton
Genetics in Medicine. 2025-01-01 - A Systematic Literature Review on the Global Status of Newborn Screening for Mucopolysaccharidosis II.Olulade Ayodele, Daniel Fertek, Obaro Evuarherhe, Csaba Siffel, Jennifer Audi
International Journal of Neonatal Screening. 2024-10-10 - Genotype-phenotype findings in patients with mucopolysaccharidosis II from the Hunter Outcome Survey.Joseph Muenzer, Hernan Amartino, Barbara K Burton, Maurizio Scarpa, Anna Tylki-Szymańska
Molecular Genetics and Metabolism. 2024-09-10
Journal Articles
- TANGO2: Expanding the Clinical Phenotype and Spectrum of Pathogenic VariantsJennifer N Dines, Heather C Mefford, Barbara Burton, Joline Dalton, Alice Basinger, Peter Karachunski, Can Ficicioglu, Katherine L Helbig, Nature
Press Mentions
‘We Have a Healthy Child:’ Eau Claire Couple Says Their Son Is Living Proof of the Need for Rare Disease ScreeningFebruary 16th, 2020- ‘What’s Wrong with My Son?’ Wisconsin Rejects $4 Test for Rare, Terminal DiseaseJanuary 22nd, 2020
10 Years After Law Passed, Illinois Finally Ready to Test Newborns for Devastating DiseaseDecember 1st, 2017
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