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Barbara K Burton

  • 6240 Citations
1973 …2019
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Personal profile

Research Interests

I am primarily interested in the diagnosis and treatment of patients with inherited metabolic disorders and in clinical trials of new therapies for rare disorders. I have particular interest and expertise in disorders diagnosed through newborn screening (phenylketonuria and others) and in lysosomal storage disorders.

Certifications and Licenses

Clinical Biochemical Genetics
Pediatrics
Clinical Genetics (MD)

Training Experience

1975Residency, Northwestern University, McGaw Medical Center (Children’s Memorial Hospital)
1977Fellowship, Northwestern University, McGaw Medical Center (Children’s Memorial Hospital)

Education/Academic qualification

MD, Northwestern University Feinberg School of Medicine

… → 1973

Research interests

  • Genetic Testing/Counseling
  • Genetics: Medical
  • Metabolism
  • Neurogenetics

Fingerprint Dive into the research topics where Barbara K Burton is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 4 Similar Profiles
Phenylketonurias Medicine & Life Sciences
Mucopolysaccharidosis II Medicine & Life Sciences
Phenylalanine Medicine & Life Sciences
Enzyme Replacement Therapy Medicine & Life Sciences
Mothers Medicine & Life Sciences
Mucopolysaccharidosis IV Medicine & Life Sciences
Newborn Infant Medicine & Life Sciences
Mucopolysaccharidoses Medicine & Life Sciences

Network Recent external collaboration on country level. Dive into details by clicking on the dots.

Grants 2013 2016

Inborn Errors of Metabolism Collaborative: Defining the Natural History of Inborn

Burton, B. K. & Charrow, J.

Michigan Public Health Institute, National Institute of Child Health and Human Development

3/1/13 → 2/29/16

Project: Research project

Research Output 1973 2019

Correction: TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants (Genetics in Medicine, (2019), 21, 3, (601-607), 10.1038/s41436-018-0137-y)

Dines, J. N., Golden-Grant, K., LaCroix, A., Muir, A. M., Cintrón, D. L., McWalter, K., Cho, M. T., Sun, A., Merritt, J. L., Thies, J., Niyazov, D., Burton, B., Kim, K., Fleming, L., Westman, R., Karachunski, P., Dalton, J., Basinger, A., Ficicioglu, C., Helbig, I. & 12 others, Pendziwiat, M., Muhle, H., Helbig, K. L., Caliebe, A., Santer, R., Becker, K., Suchy, S., Douglas, G., Millan, F., Begtrup, A., Monaghan, K. G. & Mefford, H. C., Aug 1 2019, In : Genetics in Medicine. 21, 8, 1 p.

Research output: Contribution to journal › Comment/debate

Medicine
Phenotype
5 Citations (Scopus)

Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuria

Longo, N., Dimmock, D., Levy, H., Viau, K., Bausell, H., Bilder, D. A., Burton, B. K., Gross, C., Northrup, H., Rohr, F., Sacharow, S., Sanchez-Valle, A., Stuy, M., Thomas, J., Vockley, J., Zori, R. & Harding, C. O., Aug 1 2019, In : Genetics in Medicine. 21, 8, p. 1851-1867 17 p.

Research output: Contribution to journal › Article

Phenylketonurias
Politics
Delivery of Health Care
Phenylalanine
Manuscripts

Genetic variants in the KDM6B gene are associated with neurodevelopmental delays and dysmorphic features

Stolerman, E. S., Francisco, E., Stallworth, J. L., Jones, J. R., Monaghan, K. G., Keller-Ramey, J., Person, R., Wentzensen, I. M., McWalter, K., Keren, B., Heron, B., Nava, C., Heron, D., Kim, K. H., Burton, B. K., Al-Musafri, F., O'Grady, L., Sahai, I., Escobar, L. F., Meuwissen, M. & 11 others, Reyniers, E., Kooy, F., Lacassie, Y., Gunay-Aygun, M., Schatz, K. S., Hochstenbach, R., Zwijnenburg, P. J. G., Waisfisz, Q., van Slegtenhorst, M., Mancini, G. M. S. & Louie, R. J., Jul 1 2019, In : American Journal of Medical Genetics, Part A. 179, 7, p. 1276-1286 11 p.

Research output: Contribution to journal › Article

Histones
Lysine
Methylation
Genes
Exome

Long-term comparative effectiveness of pegvaliase versus standard of care comparators in adults with phenylketonuria

Zori, R., Ahring, K., Burton, B., Pastores, G. M., Rutsch, F., Jha, A., Jurecki, E., Rowell, R. & Harding, C., Sep 1 2019, In : Molecular Genetics and Metabolism. 128, 1-2, p. 92-101 10 p.

Research output: Contribution to journal › Article

Open Access
Phenylketonurias
Standard of Care
Phenylalanine
Nutrition
Blood

Population-Based Newborn Screening for Mucopolysaccharidosis Type II in Illinois: The First Year Experience

Burton, B. K., Hoganson, G. E., Fleischer, J., Grange, D. K., Braddock, S. R., Hickey, R., Hitchins, L., Groepper, D., Christensen, K. M., Kirby, A., Moody, C., Shryock, H., Ashbaugh, L., Shao, R. & Basheeruddin, K., Nov 1 2019, In : Journal of Pediatrics. 214, p. 165-167.e1

Research output: Contribution to journal › Article

Mucopolysaccharidosis II
Iduronate Sulfatase
Newborn Infant
Population
Tandem Mass Spectrometry