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) |
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
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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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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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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
4 Scopus citations -
Disease characteristics, effectiveness, and safety of vestronidase alfa for the treatment of patients with mucopolysaccharidosis VII in a novel, longitudinal, multicenter disease monitoring program
Giugliani, R., Gonzalez-Meneses, A., Scarpa, M., Burton, B., Wang, R., Martins, E., Oussoren, E., Hennermann, J. B., Chabrol, B., Grant, C. L., Sun, A., Durand, C., Hetzer, J., Malkus, B., Marsden, D. & Merritt, J. L., Dec 2024, In: Orphanet journal of rare diseases. 19, 1, 189.Research output: Contribution to journal › Article › peer-review
Open Access -
Efficacy and safety of sapropterin before and during pregnancy: Final analysis of the Kuvan® Adult Maternal Paediatric European Registry (KAMPER) maternal and Phenylketonuria Developmental Outcomes and Safety (PKUDOS) PKU-MOMs sub-registries
Feillet, F., Ficicioglu, C., Lagler, F. B., Longo, N., Muntau, A. C., Burlina, A., Trefz, F. K., van Spronsen, F. J., Arnoux, J. B., Lindstrom, K., Lilienstein, J., Clague, G. E., Rowell, R. & Burton, B. K., Jul 2024, In: Journal of inherited metabolic disease. 47, 4, p. 636-650 15 p.Research output: Contribution to journal › Article › peer-review
Open Access3 Scopus citations -
Evaluating change in diet with pegvaliase treatment in adults with phenylketonuria: Analysis of phase 3 clinical trial data
Rohr, F., Burton, B., Dee, A., Harding, C. O., Lilienstein, J., Lindstrom, K., MacLeod, E., Rose, S., Singh, R., van Calcar, S. & Whitehall, K., Mar 2024, In: Molecular Genetics and Metabolism. 141, 3, 108122.Research output: Contribution to journal › Article › peer-review
Open Access6 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