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Barbara K Burton

  • 6609 Citations
1973 …2020

Research output per year

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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

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Grants

BioMarin 307-902: A Prospective ClinicalObservational Study of Phenylketonuria (PKU)

Burton, B. K.

BioMarin Pharmaceutical Inc.

11/4/19 → 8/30/50

Project: Research project

Mucopolysaccharidosis VII Disease Monitoring Program (MPS VII DMP)

Burton, B. K.

Ultragenyx Pharmaceutical Inc.

8/22/19 → 8/31/50

Project: Research project

HMI-102-101: A Phase 1/2 Open-Label, Randomized, Concurrently-Controlled, Dose Escalation Study to Evaluate the Safety and Efficacy of HMI-102 in Adult PKU Subjects with PAH Deficiency

Burton, B. K.

Homology Medicines, Inc.

7/9/19 → 8/31/50

Project: Research project

AN OPEN LABEL STUDY TO DETERMINE THE SAFETY AND TOLERABILITY OF 12 WEEKS TREATMENT WITH ORAL REN001 IN SUBJECTS WITH FATTY ACID OXIDATION DISORDERS (FAOD)

Burton, B. K.

Reneo Pharma Ltd.

4/9/19 → 8/31/50

Project: Research project

A Global, Multicenter, Open-label, Matched Historical Control Study of Intrathecal SHP611-201 in Subjects with Late Infantile Metachromatic Leukodystrophy

Burton, B. K.

Shire Human Genetic Therapies, Inc.

3/5/19 → 8/31/50

Project: Research project

Research Output

Newborn screening for pompe disease in Illinois: Experience with 684,290 infants

Burton, B. K., Charrow, J., Hoganson, G. E., Fleischer, J., Grange, D. K., Braddock, S. R., Hitchins, L., Hickey, R., Christensen, K. M., Groepper, D., Shryock, H., Smith, P., Shao, R. & Basheeruddin, K., Jan 1 2020, In : International Journal of Neonatal Screening. 6, 1, ijns6010004.

Research output: Contribution to journal › Article

Open Access

    • 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

    • 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., 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

    • 10 Scopus citations

    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., Burton, B., 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 2019, In : American Journal of Medical Genetics, Part A. 179, 7, p. 1276-1286 11 p.

    Research output: Contribution to journal › Article

    • 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
    • 1 Scopus citations