Grants per year
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
| 1975 | Residency, Northwestern University, McGaw Medical Center (Children’s Memorial Hospital) |
| 1977 | Fellowship, Northwestern University, McGaw Medical Center (Children’s Memorial Hospital) |
Expertise related to UN Sustainable Development Goals
In 2015, UN member states agreed to 17 global Sustainable Development Goals (SDGs) to end poverty, protect the planet and ensure prosperity for all. This person’s work contributes towards the following SDG(s):
Education/Academic qualification
Medicine, MD, Northwestern University
… → 1973
Research interests keywords
- Genetic Testing/Counseling
- Genetics: Medical
- Metabolism
- Neurogenetics
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Collaborations and top research areas from the last five years
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
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HMI-102-102: An Open-Label, Long-Term Follow-Up Study of Safety and Efficacy in PKU Subjects with PAH Deficiency Previously Administered HMI-102
Burton, B. K. (PD/PI)
6/11/20 → 8/31/50
Project: Research project
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BioMarin 307-902: A Prospective ClinicalObservational Study of Phenylketonuria (PKU)
Burton, B. K. (PD/PI)
11/4/19 → 8/30/50
Project: Research project
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Mucopolysaccharidosis VII Disease Monitoring Program (MPS VII DMP)
Burton, B. K. (PD/PI)
Ultragenyx Pharmaceutical Inc.
8/22/19 → 8/31/50
Project: Research project
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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. (PD/PI)
4/9/19 → 8/31/50
Project: Research project
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Evaluation of early treatment with intravenous idursulfase and intrathecal idursulfase-IT on cognitive function in siblings with neuronopathic mucopolysaccharidosis II
Muenzer, J., Burton, B. K., Harmatz, P., Gutiérrez-Solana, L. G., Ruiz-Garcia, M., Jones, S. A., Guffon, N., Inbar-Feigenberg, M., Bratkovic, D., Rust, S., Hale, M., Wu, Y., Yee, K. S., Whiteman, D. A. H. & Alexanderian, D., May 2025, In: Journal of inherited metabolic disease. 48, 3, e12790.Research output: Contribution to journal › Article › peer-review
Open Access1 Scopus citations -
High precision newborn screening for mucopolysaccharidosis type I by enzymatic activity followed by endogenous, non-reducing end glycosaminoglycan analysis
Herbst, Z. M., Kubaski, F., Pollard, L., Basheeruddin, K., Burton, B., Orsini, J., Henderson, M., Chakraborty, P. & Gelb, M. H., Feb 2025, In: Molecular Genetics and Metabolism. 144, 2, 108612.Research output: Contribution to journal › Article › peer-review
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Phenylalanine hydroxylase deficiency diagnosis and management: A 2023 evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)
ACMG Board of Directors, Jan 2025, In: Genetics in Medicine. 27, 1, 101289.Research output: Contribution to journal › Article › peer-review
3 Scopus citations -
A Systematic Literature Review on the Global Status of Newborn Screening for Mucopolysaccharidosis II
Ayodele, O., Fertek, D., Evuarherhe, O., Siffel, C., Audi, J., Yee, K. S. & Burton, B. K., Dec 2024, In: International Journal of Neonatal Screening. 10, 4, 71.Research output: Contribution to journal › Review article › peer-review
Open Access -
Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States
Adang, L. A., Bonkowsky, J. L., Boelens, J. J., Mallack, E., Ahrens-Nicklas, R., Bernat, J. A., Bley, A., Burton, B., Darling, A., Eichler, F., Eklund, E., Emrick, L., Escolar, M., Fatemi, A., Fraser, J. L., Gaviglio, A., Keller, S., Patterson, M. C., Orchard, P. & Orthmann-Murphy, J. & 12 others, , Jul 2024, In: Cytotherapy. 26, 7, p. 739-748 10 p.Research output: Contribution to journal › Article › peer-review
9 Scopus citations
Datasets
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I45T cytosolic phosphoenolpyruvate carboxykinase in complex with beta-sulfopyruvate and GTP
Adams, D. R. (Contributor), Yuan, H. (Contributor), Holyoak, T. (Contributor), Arajs, K. H. (Contributor), Hakimi, P. (Contributor), Markello, T. C. (Contributor), Wolfe, L. A. (Contributor), Vilboux, T. (Contributor), Burton, B. K. (Contributor), Fajardo, K. F. (Contributor), Grahame, G. (Contributor), Holloman, C. (Contributor), Sincan, M. (Contributor), Smith, A. C. M. (Contributor), Wells, G. A. (Contributor), Huang, Y. (Contributor), Vega, H. (Contributor), Snyder, J. P. (Contributor), Golas, G. A. (Contributor), Tifft, C. J. (Contributor), Boerkoel, C. F. (Contributor), Hanson, R. W. (Contributor), Traynelis, S. F. (Contributor), Kerr, D. S. (Contributor) & Gahl, W. A. (Contributor), Protein Data Bank (PDB), Jun 11 2014
DOI: 10.2210/pdb4OX2/pdb, https://www.wwpdb.org/pdb?id=pdb_00004ox2
Dataset