Barbara K Burton

  • 6015 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
Enzyme Replacement Therapy Medicine & Life Sciences
Mothers Medicine & Life Sciences
Phenylalanine 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

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. K., Kim, K. H., 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 journalComment/debate

Medicine
Phenotype

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 journalArticle

Histones
Lysine
Methylation
Genes
Exome
3 Citations (Scopus)

Results from a 78-week, single-arm, open-label phase 2 study to evaluate UX007 in pediatric and adult patients with severe long-chain fatty acid oxidation disorders (LC-FAOD)

Vockley, J., Burton, B. K., Berry, G. T., Longo, N., Phillips, J., Sanchez-Valle, A., Tanpaiboon, P., Grunewald, S., Murphy, E., Bowden, A., Chen, W., Chen, C. Y., Cataldo, J., Marsden, D. & Kakkis, E., Jan 1 2019, In : Journal of inherited metabolic disease. 42, 1, p. 169-177 9 p.

Research output: Contribution to journalArticle

Open Access
Hospitalization
Fatty Acids
Rhabdomyolysis
Pediatrics
Cardiomyopathies
2 Citations (Scopus)

TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants

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. K., Kim, K. H., 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., Mar 1 2019, In : Genetics in Medicine. 21, 3, p. 601-607 7 p.

Research output: Contribution to journalArticle

Exome
Phenotype
Genotype
Rhabdomyolysis
Brain Diseases
1 Citation (Scopus)

Cardiopulmonary exercise testing reflects improved exercise capacity in response to treatment in morquio a patients: Results of a 52-week pilot study of two different doses of elosulfase alfa

Berger, K. I., Burton, B. K., Lewis, G. D., Tarnopolsky, M., Harmatz, P. R., Mitchell, J. J., Muschol, N., Jones, S. A., Sutton, V. R., Pastores, G. M., Lau, H., Sparkes, R. & Shaywitz, A. J., Jan 1 2018, JIMD Reports. Springer, p. 9-17 9 p. (JIMD Reports; vol. 42).

Research output: Chapter in Book/Report/Conference proceedingChapter

Exercise
Stairs
Testing
Oxygen
Enzyme Replacement Therapy