Barbara K Burton

  • 6056 Citations
1973 …2019
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Research Output 1973 2019

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
2 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 journalArticle

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 journalArticle

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. K., Pastores, G. M., Rutsch, F., Jha, A., Jurecki, E., Rowell, R. & Harding, C., Jan 1 2019, In : Molecular Genetics and Metabolism.

Research output: Contribution to journalArticle

Open Access
Phenylketonurias
Standard of Care
Phenylalanine
Nutrition
Blood
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
3 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
2018
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
10 Citations (Scopus)

Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease

Kwon, J. M., Matern, D., Kurtzberg, J., Wrabetz, L., Gelb, M. H., Wenger, D. A., Ficicioglu, C., Waldman, A. T., Burton, B. K., Hopkins, P. V. & Orsini, J. J., Feb 1 2018, In : Orphanet journal of rare diseases. 13, 1, 30.

Research output: Contribution to journalReview article

Globoid Cell Leukodystrophy
Consensus
Newborn Infant
Guidelines
Therapeutics
4 Citations (Scopus)

Impact of long-term elosulfase alfa on activities of daily living in patients with Morquio A syndrome in an open-label, multi-center, phase 3 extension study

Hendriksz, C. J., Parini, R., AlSayed, M. D., Raiman, J., Giugliani, R., Mitchell, J. J., Burton, B. K., Guelbert, N., Stewart, F. J., Hughes, D. A., Matousek, R., Hawley, S. M., Decker, C. & Harmatz, P. R., Feb 1 2018, In : Molecular Genetics and Metabolism. 123, 2, p. 127-134 8 p.

Research output: Contribution to journalArticle

Mucopolysaccharidosis IV
Activities of Daily Living
Self Care
Mucopolysaccharidoses
Labels
5 Citations (Scopus)

Long-term safety and efficacy of pegvaliase for the treatment of phenylketonuria in adults: Combined phase 2 outcomes through PAL-003 extension study

Longo, N., Zori, R., Wasserstein, M. P., Vockley, J., Burton, B. K., Decker, C., Li, M., Lau, K., Jiang, J., Larimore, K. & Thomas, J. A., Jul 4 2018, In : Orphanet journal of rare diseases. 13, 1, 108.

Research output: Contribution to journalArticle

Phenylketonurias
Phenylalanine
Safety
Phenylalanine Ammonia-Lyase
Social Adjustment
11 Citations (Scopus)

Pegvaliase for the treatment of phenylketonuria: A pivotal, double-blind randomized discontinuation Phase 3 clinical trial

PRISM-2 Investigators, May 1 2018, In : Molecular Genetics and Metabolism. 124, 1, p. 20-26 7 p.

Research output: Contribution to journalArticle

Phase III Clinical Trials
Phenylketonurias
Phenylalanine
Blood
Placebos
3 Citations (Scopus)

Prevalence of comorbid conditions among adult patients diagnosed with phenylketonuria

Burton, B. K., Jones, K. B., Cederbaum, S., Rohr, F., Waisbren, S., Irwin, D. E., Kim, G., Lilienstein, J., Alvarez, I., Jurecki, E. & Levy, H., Nov 1 2018, In : Molecular Genetics and Metabolism. 125, 3, p. 228-234 7 p.

Research output: Contribution to journalArticle

Phenylketonurias
Insurance
Comorbidity
International Classification of Diseases
Phenylalanine Hydroxylase
1 Citation (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., Jul 9 2018, (Accepted/In press) In : Journal of inherited metabolic disease. p. 1-8 8 p.

Research output: Contribution to journalArticle

Hospitalization
Fatty Acids
Rhabdomyolysis
Pediatrics
Cardiomyopathies
2017
3 Citations (Scopus)

Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures

Stern, D., Cho, M. T., Chikarmane, R., Willaert, R., Retterer, K., Kendall, F., Deardorff, M., Hopkins, S., Bedoukian, E., Slavotinek, A., Schrier Vergano, S., Spangler, B., McDonald, M., McConkie-Rosell, A., Burton, B. K., Kim, K. H., Oundjian, N., Kronn, D., Chandy, N., Baskin, B. & 5 others, Guillen Sacoto, M. J., Wentzensen, I. M., McLaughlin, H. M., McKnight, D. & Chung, W. K., Aug 1 2017, In : Clinical Genetics. 92, 2, p. 221-223 3 p.

Research output: Contribution to journalLetter

4 Citations (Scopus)

Erratum: De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype (American Journal of Human Genetics (2016) 99(4) (991–999)(S0002929716303718)(10.1016/j.ajhg.2016.08.017))

Shashi, V., Pena, L. D. M., Kim, K., Burton, B., Hempel, M., Schoch, K., Walkiewicz, M., McLaughlin, H. M., Cho, M., Stong, N., Hickey, S. E., Shuss, C. M., Freemark, M. S., Bellet, J. S., Keels, M. A., Bonner, M. J., El-Dairi, M., Butler, M., Kranz, P. G., Stumpel, C. T. R. M. & 14 others, Klinkenberg, S., Oberndorff, K., Alawi, M., Santer, R., Petrovski, S., Kuismin, O., Korpi-Heikkilä, S., Pietilainen, O., Aarno, P., Kurki, M. I., Hoischen, A., Need, A. C., Goldstein, D. B. & Kortüm, F., Jan 5 2017, In : American Journal of Human Genetics. 100, 1, 1 p.

Research output: Contribution to journalComment/debate

Medical Genetics
Phenotype
6 Citations (Scopus)

Impact of elosulfase alfa in patients with morquio A syndrome who have limited ambulation: An open-label, phase 2 study

Harmatz, P. R., Mengel, E., Geberhiwot, T., Muschol, N., Hendriksz, C. J., Burton, B. K., Jameson, E., Berger, K. I., Jester, A., Treadwell, M., Sisic, Z. & Decker, C., Feb 1 2017, In : American Journal of Medical Genetics, Part A. 173, 2, p. 375-383 9 p.

Research output: Contribution to journalArticle

Mucopolysaccharidosis IV
Walking
Enzyme Replacement Therapy
Keratan Sulfate
Pinch Strength
15 Citations (Scopus)

Mucopolysaccharidosis Type I Newborn Screening: Best Practices for Diagnosis and Management

Clarke, L. A., Atherton, A. M., Burton, B. K., Day-Salvatore, D. L., Kaplan, P., Leslie, N. D., Scott, C. R., Stockton, D. W., Thomas, J. A. & Muenzer, J., Mar 1 2017, In : Journal of Pediatrics. 182, p. 363-370 8 p.

Research output: Contribution to journalComment/debate

Mucopolysaccharidosis I
Practice Management
Practice Guidelines
28 Citations (Scopus)

Newborn Screening for Lysosomal Storage Disorders in Illinois: The Initial 15-Month Experience

Burton, B. K., Charrow, J., Hoganson, G. E., Waggoner, D., Tinkle, B., Braddock, S. R., Schneider, M., Grange, D. K., Nash, C., Shryock, H., Barnett, R., Shao, R., Basheeruddin, K. & Dizikes, G., Nov 1 2017, In : Journal of Pediatrics. 190, p. 130-135 6 p.

Research output: Contribution to journalArticle

Newborn Infant
Glycogen Storage Disease Type II
Mucopolysaccharidosis I
Fabry Disease
Gaucher Disease
2 Citations (Scopus)

Progression of liver disease in children and adults with lysosomal acid lipase deficiency

Burton, B. K., Silliman, N. & Marulkar, S., Jul 3 2017, In : Current Medical Research and Opinion. 33, 7, p. 1211-1214 4 p.

Research output: Contribution to journalArticle

Liver Transplantation
Liver Diseases
Fibrosis
Documentation
Biopsy
6 Citations (Scopus)

Survival in idursulfase-treated and untreated patients with mucopolysaccharidosis type II: data from the Hunter Outcome Survey (HOS)

Burton, B. K., Jego, V., Mikl, J. & Jones, S. A., Nov 1 2017, In : Journal of inherited metabolic disease. 40, 6, p. 867-874 8 p.

Research output: Contribution to journalArticle

Mucopolysaccharidosis II
Survival
Confidence Intervals
Genetic Databases
Enzyme Replacement Therapy
15 Citations (Scopus)

Ten years of the Hunter Outcome Survey (HOS): insights, achievements, and lessons learned from a global patient registry

Muenzer, J., Jones, S. A., Tylki-Szymańska, A., Harmatz, P., Mendelsohn, N. J., Guffon, N., Giugliani, R., Burton, B. K., Scarpa, M., Beck, M., Jangelind, Y., Hernberg-Stahl, E., Larsen, M. P., Pulles, T. & Whiteman, D. A. H., May 2 2017, In : Orphanet journal of rare diseases. 12, 1, 82.

Research output: Contribution to journalReview article

Registries
Mucopolysaccharidosis II
Iduronate Sulfatase
Patient Care Management
Lysosomal Storage Diseases
6 Citations (Scopus)

The initial evaluation of patients after positive newborn screening: Recommended algorithms leading to a confirmed diagnosis of pompe disease

Burton, B. K., Kronn, D. F., Hwu, W. L. & Kishnani, P. S., Jul 1 2017, In : Pediatrics. 140, e20160280D.

Research output: Contribution to journalArticle

Glycogen Storage Disease Type II
Newborn Infant
DNA Sequence Analysis
Glucosidases
Essential Genes
15 Citations (Scopus)

UX007 for the treatment of long chain-fatty acid oxidation disorders: Safety and efficacy in children and adults following 24 weeks of treatment

Vockley, J., Burton, B. K., Berry, G. T., Longo, N., Phillips, J., Sanchez-Valle, A., Tanpaiboon, P., Grunewald, S., Murphy, E., Humphrey, R., Mayhew, J., Bowden, A., Zhang, L., Cataldo, J., Marsden, D. L. & Kakkis, E., Apr 1 2017, In : Molecular Genetics and Metabolism. 120, 4, p. 370-377 8 p.

Research output: Contribution to journalArticle

Fatty Acids
Safety
Oxidation
Exercise Tolerance
Muscle
2016
2 Citations (Scopus)

221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative

Bentler, K., Zhai, S., Elsbecker, S. A., Arnold, G. L., Burton, B. K., Vockley, J., Cameron, C. A., Hiner, S. J., Edick, M. J., Berry, S. A., Thomas, J., Dodge, M., Singh, R., Lakshman, S., Coakley, K., Stembridge, A., Russi, A. S., Phillips, E., Burton, B., Edano, C. & 62 others, Shrestha, S., Hoganson, G., Dwyer, L., Hainline, B., Romie, S., Hainline, S., Asamoah, A., Goodin, K., Rajakaruna, C., Jackson, K., Hamosh, A., Vernon, H., Smith, N., Ahmad, A., Lipinski, S., Feldman, G., Berry, S., Elsbecker, S., Bentler, K., Font-Montgomery, E., Peck, D., Pena, L. D. M., Koeberl, D. D., Jiang, Y. H., Kishnani, P. S., Rizzo, W., Dawson, M., Ambrose, N., Levy, P., Kronn, D., Fong, C. T., D'Aco, K., Hart, T., Erbe, R., Samons, M., Leslie, N., Powers, R., Bartholomew, D., Goff, M., vanCalcar, S., Hansen, J., Arnold, G., Vockley, J., Walsh-Vockley, C., Rhead, W., Dimmock, D., Engelking, P., Bird, C., Swan, A., Schwoerer, J. S., Henry, S., Narumanchi, T. C., Hummel, M., Wilkins, J., Davis-Keppen, L., Stein, Q., Loman, R., Cameron, C., Edick, M. J., Hiner, S. J., Justice, K. & Zhai, S., Sep 1 2016, In : Molecular Genetics and Metabolism. 119, 1-2, p. 75-82 8 p.

Research output: Contribution to journalArticle

Acyl-CoA Dehydrogenase
Inborn Errors Metabolism
Metabolism
Health
Newborn Infant
18 Citations (Scopus)

De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype

Shashi, V., Pena, L. D. M., Kim, K., Burton, B., Hempel, M., Schoch, K., Walkiewicz, M., McLaughlin, H. M., Cho, M., Stong, N., Hickey, S. E., Shuss, C. M., Bacino, A., Lee, B. H., Balasubramanyam, A., Burrage, L. C., Clark, G. D., Craigen, W. J., Dhar, S. U., Emrick, L. T. & 180 others, Graham, B. H., Jain, M., Lalani, S. R., Lewis, R. A., Moretti, P. M., Nicholas, S. K., Orange, J. S., Posey, J. E., Potocki, L., Rosenfeld, J. A., Scott, D. A., Hanchard, N. A., Alyssa, T. A., Mercedes, A. E., Mashid, A. S., Bellen, H. J., Yamamoto, S., Wangler, M. F., Westerfield, M., Postlethwait, J. H., Eng, C. M., Yang, Y., Muzny, D. M., Ward, P. A., Ramoni, R. B., McCray, A. T., Kohane, I. S., Holm, I. A., Might, M., Mazur, P., Splinter, K., Esteves, C., Shashi, V., Jiang, Y. H., Pena, L. D. M., McConkie-Rosell, A., Schoch, K., Spillmann, R. C., Sullivan, J. A., Walley, N. M., Goldstein, D. B., Stong, N., Beggs, A. H., Loscalzo, J., MacRae, C. A., Silverman, E. K., Stoler, J. M., Sweetser, D. A., Maas, R. L., Krier, J. B., Rodan, L. H., Walsh, C. A., Cooper, C. M., Pallais, J. C., Donnell-Fink, L. A., Krieg, E. L., Lincoln, S. A., Briere, L. C., Jacob, H. J., Worthey, E. A., Lazar, J., Strong, K. A., Handley, L. H., Newberry, J. S., Bick, D. P., Schroeder, M. C., Brown, D. M., Birch, C. L., Levy, S. E., Boone, B. E., Dorset, D. C., Jones, A. L., Manolio, T. A., Mulvihill, J. J., Wise, A. L., Dayal, J. G., Eckstein, D. J., Krasnewich, D. M., Loomis, C. R., Mamounas, L. A., Iglesias, B., Martin, C., Koeller, D. M., Metz, T. O., Ashley, E. A., Fisher, P. G., Bernstein, J. A., Wheeler, M. T., Zornio, P. A., Waggott, D. M., Dries, A. M., Kohler, J. N., Dipple, K. M., Nelson, S. F., Palmer, C. G. S., Vilain, E., Allard, P., Dell Angelica, E. C., Lee, H., Sinsheimer, J. S., Papp, J. C., Dorrani, N., Herzog, M. R., Barseghyan, H., Adams, D. R., Adams, C. J., Burke, E. A., Chao, K. R., Davids, M., Draper, D. D., Estwick, T., Frisby, T. S., Frost, K., Gahl, W. A., Gartner, V., Godfrey, R. A., Goheen, M., Golas, G. A., Gordon, M. G., Groden, C. A., Gropman, A. L., Hackbarth, M. E., Hardee, I., Johnston, J. M., Koehler, A. E., Latham, L., Latour, Y. L., Lau, C. Y. C., Lee, P. R., Levy, D. J., Liebendorder, A. P., Macnamara, E. F., Maduro, V. V., Malicdan, M. V., Markello, T. C., McCarty, A. J., Murphy, J. L., Nehrebecky, M. E., Novacic, D., Pusey, B. N., Sadozai, S., Schaffer, K. E., Sharma, P., Soldatos, A. G., Thomas, S. P., Tifft, C. J., Tolman, N. J., Toro, C., Valivullah, Z. M., Wahl, C. E., Warburton, M., Weech, A. A., Wolfe, L. A., Yu, G., Hamid, R., Newman, J. H., Phillips, J. A., Cogan, J. D., Freemark, M. S., Bellet, J. S., Keels, M. A., Bonner, M. J., El-Dairi, M., Butler, M., Kranz, P. G., Stumpel, C. T. R. M., Klinkenberg, S., Oberndorff, K., Alawi, M., Santer, R., Petrovski, S., Kuismin, O., Korpi-Heikkilä, S., Pietilainen, O., Aarno, P., Kurki, M. I., Hoischen, A., Need, A. C., Goldstein, D. B. & Kortüm, F., Oct 6 2016, In : American Journal of Human Genetics. 99, 4, p. 991-999 9 p.

Research output: Contribution to journalArticle

Megalencephaly
Phenotype
Intellectual Disability
Body Patterning
Port-Wine Stain
27 Citations (Scopus)

Immune response to enzyme replacement therapies in lysosomal storage diseases and the role of immune tolerance induction

Kishnani, P. S., Dickson, P. I., Muldowney, L., Lee, J. J., Rosenberg, A., Abichandani, R., Bluestone, J. A., Burton, B. K., Dewey, M., Freitas, A., Gavin, D., Griebel, D., Hogan, M., Holland, S., Tanpaiboon, P., Turka, L. A., Utz, J. J., Wang, Y. M., Whitley, C. B., Kazi, Z. B. & 1 others, Pariser, A. R., Feb 1 2016, In : Molecular Genetics and Metabolism. 117, 2, p. 66-83 18 p.

Research output: Contribution to journalReview article

Lysosomal Storage Diseases
Enzyme Replacement Therapy
Immune Tolerance
Anti-Idiotypic Antibodies
Antibodies
7 Citations (Scopus)

Impact of long-term elosulfase alfa treatment on respiratory function in patients with Morquio A syndrome

Hendriksz, C. J., Berger, K. I., Parini, R., AlSayed, M. D., Raiman, J., Giugliani, R., Mitchell, J. J., Burton, B. K., Guelbert, N., Stewart, F., Hughes, D. A., Matousek, R., Jurecki, E., Decker, C. & Harmatz, P. R., Nov 1 2016, In : Journal of inherited metabolic disease. 39, 6, p. 839-847 9 p.

Research output: Contribution to journalArticle

Mucopolysaccharidosis IV
Enzyme Replacement Therapy
Therapeutics
Vital Capacity
Forced Expiratory Volume

Inherited Metabolic Disorders

Burton, BK., 2016, Avery's Neonatology: Pathophysiology and Management of the Newborn, 7th Ed. MacDonald, MG. & Seshia, MMK. (eds.). Philadelphia: Wolters Kluwer, p. 740-9

Research output: Chapter in Book/Report/Conference proceedingChapter

4 Citations (Scopus)

In vivo monitoring of urea cycle activity with 13C-acetate as a tracer of ureagenesis

Opladen, T., Lindner, M., Das, A. M., Marquardt, T., Khan, A., Emre, S. H., Burton, B. K., Barshop, B. A., Böhm, T., Meyburg, J., Zangerl, K., Mayorandan, S., Burgard, P., Dürr, U. H. N., Rosenkranz, B., Rennecke, J., Derbinski, J., Yudkoff, M. & Hoffmann, G. F., Jan 1 2016, In : Molecular Genetics and Metabolism. 117, 1, p. 19-26 8 p.

Research output: Contribution to journalArticle

Activity Cycles
Urea
Acetates
Monitoring
Assays
20 Citations (Scopus)

Long-term endurance and safety of elosulfase alfa enzyme replacement therapy in patients with Morquio A syndrome

Hendriksz, C. J., Parini, R., AlSayed, M. D., Raiman, J., Giugliani, R., Solano Villarreal, M. L., Mitchell, J. J., Burton, B. K., Guelbert, N., Stewart, F., Hughes, D. A., Berger, K. I., Slasor, P., Matousek, R., Jurecki, E., Shaywitz, A. J. & Harmatz, P. R., Sep 1 2016, In : Molecular Genetics and Metabolism. 119, 1-2, p. 131-143 13 p.

Research output: Contribution to journalArticle

Mucopolysaccharidosis IV
Keratan Sulfate
Enzyme Replacement Therapy
Stairs
Durability
3 Citations (Scopus)

Pregnancy in patients with mucopolysaccharidosis: A case series

Stewart, F. J., Bentley, A., Burton, B. K., Guffon, N., Hale, S. L., Harmatz, P. R., Kircher, S. G., Kochhar, P. K., Mitchell, J. J., Plöckinger, U., Graham, S., Sande, S., Sisic, Z. & Johnston, T. A., Sep 1 2016, In : Molecular Genetics and Metabolism Reports. 8, p. 111-115 5 p.

Research output: Contribution to journalArticle

Mucopolysaccharidoses
Pregnancy Outcome
Fathers
Fertility
Mothers
9 Citations (Scopus)

Unique medical issues in adult patients with mucopolysaccharidoses

Mitchell, J., Berger, K. I., Borgo, A., Braunlin, E. A., Burton, B. K., Ghotme, K. A., Kircher, S. G., Molter, D., Orchard, P. J., Palmer, J., Pastores, G. M., Rapoport, D. M., Wang, R. Y. & White, K., Oct 1 2016, In : European Journal of Internal Medicine. 34, p. 2-10 9 p.

Research output: Contribution to journalReview article

Mucopolysaccharidoses
Glycosaminoglycans
Metabolic Diseases
Disease Management
Life Expectancy
2015
3 Citations (Scopus)

A cerebrospinal fluid collection study in pediatric and adult patients with hunter syndrome

Hendriksz, C. J., Muenzer, J., Burton, B. K., Pan, L., Wang, N., Naimy, H., Pano, A. & Barbier, A. J., Dec 1 2015, In : Journal of Inborn Errors of Metabolism and Screening. 2015, January-December, p. 1-5 5 p.

Research output: Contribution to journalArticle

Mucopolysaccharidosis II
Cerebrospinal Fluid
Glycosaminoglycans
Pediatrics
Heparitin Sulfate
104 Citations (Scopus)

A phase 3 trial of sebelipase alfa in lysosomal acid lipase deficiency

Burton, B. K., Balwani, M., Feillet, F., Baric, I., Burrow, T. A., Grande, C. C., Coker, M., Consuelo-Sanchez, A., Deegan, P., Di Rocco, M., Enns, G. M., Erbe, R., Ezgu, F., Ficicioglu, C., Furuya, K. N., Kane, J., Laukaitis, C., Mengel, E., Neilan, E. G., Nightingale, S. & 11 others, Peters, H., Scarpa, M., Schwab, K. O., Smolka, V., Valayannopoulos, V., Wood, M., Goodman, Z., Yang, Y., Eckert, S., Rojas-Caro, S. & Quinn, A. G., Sep 10 2015, In : New England Journal of Medicine. 373, 11, p. 1010-1020 11 p.

Research output: Contribution to journalArticle

Enzyme Replacement Therapy
Lipids
Placebos
Alanine Transaminase
Fibrosis
17 Citations (Scopus)

A randomized, placebo-controlled, double-blind study of sapropterin to treat ADHD symptoms and executive function impairment in children and adults with sapropterin-responsive phenylketonuria

Burton, B. K., Grant, M., Feigenbaum, A., Singh, R., Hendren, R., Siriwardena, K., Phillips, J., Sanchez-Valle, A., Waisbren, S., Gillis, J., Prasad, S., Merilainen, M., Lang, W., Zhang, C., Yu, S. & Stahl, S., Mar 1 2015, In : Molecular Genetics and Metabolism. 114, 3, p. 415-424 10 p.

Research output: Contribution to journalArticle

Phenylketonurias
Executive Function
Attention Deficit Disorder with Hyperactivity
Double-Blind Method
Placebos
45 Citations (Scopus)

Clinical Features of Lysosomal Acid Lipase Deficiency

Burton, B. K., Deegan, P. B., Enns, G. M., Guardamagna, O., Horslen, S., Hovingh, G. K., Lobritto, S. J., Malinova, V., McLin, V. A., Raiman, J., Di Rocco, M., Santra, S., Sharma, R., Sykut-Cegielska, J., Whitley, C. B., Eckert, S., Valayannopoulos, V. & Quinn, A. G., Dec 1 2015, In : Journal of pediatric gastroenterology and nutrition. 61, 6, p. 619-625 7 p.

Research output: Contribution to journalArticle

Liver
Lysosomal acid lipase deficiency
Liver Failure
HDL Lipoproteins
Dyslipidemias
9 Citations (Scopus)

Levels of glycosaminoglycans in the cerebrospinal fluid of healthy young adults, surrogate-normal children, and Hunter syndrome patients with and without cognitive impairment

Hendriksz, C. J., Muenzer, J., Vanderver, A., Davis, J. M., Burton, B. K., Mendelsohn, N. J., Wang, N., Pan, L., Pano, A. & Barbier, A. J., Dec 1 2015, In : Molecular Genetics and Metabolism Reports. 5, p. 103-106 4 p.

Research output: Contribution to journalArticle

Mucopolysaccharidosis II
Glycosaminoglycans
Cerebrospinal Fluid
Young Adult
Mucopolysaccharidoses
21 Citations (Scopus)

Longitudinal analysis of endurance and respiratory function from a natural history study of Morquio A syndrome

Harmatz, P. R., Mengel, K. E., Giugliani, R., Valayannopoulos, V., Lin, S. P., Parini, R., Guffon, N., Burton, B. K., Hendriksz, C. J., Mitchell, J. J., Martins, A. M., Jones, S. A., Guelbert, N., Vellodi, A., Wijburg, F. A., Yang, K., Slasor, P. & Decker, C., Feb 1 2015, In : Molecular Genetics and Metabolism. 114, 2, p. 186-194 9 p.

Research output: Contribution to journalArticle

Mucopolysaccharidosis IV
Natural History
Stairs
Ventilation
Vital Capacity
9 Citations (Scopus)

Long-term developmental progression in infants and young children taking sapropterin for phenylketonuria: A two-year analysis of safety and efficacy

Longo, N., Siriwardena, K., Feigenbaum, A., Dimmock, D., Burton, B. K., Stockler, S., Waisbren, S., Lang, W., Jurecki, E., Zhang, C. & Prasad, S., May 8 2015, In : Genetics in Medicine. 17, 5, p. 365-373 9 p.

Research output: Contribution to journalArticle

Phenylketonurias
Phenylalanine
Safety
Social Adjustment
sapropterin
35 Citations (Scopus)

Multi-domain impact of elosufase alfa in Morquio A syndrome in the pivotal phase III trial

STRIVE Investigators, Jan 1 2015, In : Molecular Genetics and Metabolism. 114, 2, p. 178-185 8 p.

Research output: Contribution to journalArticle

Mucopolysaccharidosis IV
Placebos
Maximal Voluntary Ventilation
Ventilation
Composite materials
60 Citations (Scopus)

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

Snijders Blok, L., Madsen, E., Juusola, J., Gilissen, C., Baralle, D., Reijnders, M. R. F., Venselaar, H., Helsmoortel, C., Cho, M. T., Hoischen, A., Vissers, L. E. L. M., Koemans, T. S., Wissink-Lindhout, W., Eichler, E. E., Romano, C., Van Esch, H., Stumpel, C., Vreeburg, M., Smeets, E., Oberndorff, K. & 65 others, Van Bon, B. W. M., Shaw, M., Gecz, J., Haan, E., Bienek, M., Jensen, C., Loeys, B. L., Van Dijck, A., Innes, A. M., Racher, H., Vermeer, S., Di Donato, N., Rump, A., Tatton-Brown, K., Parker, M. J., Henderson, A., Lynch, S. A., Fryer, A., Ross, A., Vasudevan, P., Kini, U., Newbury-Ecob, R., Chandler, K., Male, A., Dijkstra, S., Schieving, J., Giltay, J., Van gassen, K. L. I., Schuurs-Hoeijmakers, J., Tan, P. L., Pediaditakis, I., Haas, S. A., Retterer, K., Reed, P., Monaghan, K. G., Haverfield, E., Natowicz, M., Myers, A., Kruer, M. C., Stein, Q., Strauss, K. A., Brigatti, K. W., Keating, K., Burton, B. K., Kim, K. H., Charrow, J., Norman, J., Foster-Barber, A., Kline, A. D., Kimball, A., Zackai, E., Harr, M., Fox, J., McLaughlin, J., Lindstrom, K., Haude, K. M., Van Roozendaal, K., Brunner, H., Chung, W. K., Kooy, R. F., Pfundt, R., Kalscheuer, V., Mehta, S. G., Katsanis, N. & Kleefstra, T., Aug 6 2015, In : American Journal of Human Genetics. 97, 2, p. 343-352 10 p., 1916.

Research output: Contribution to journalArticle

Intellectual Disability
Mutation
X-Linked Genes
Exome
Sexism
20 Citations (Scopus)

Safety and physiological effects of two different doses of elosulfase alfa in patients with morquio a syndrome: A randomized, double-blind, pilot study

Burton, B. K., Berger, K. I., Lewis, G. D., Tarnopolsky, M., Treadwell, M., Mitchell, J. J., Muschol, N., Jones, S. A., Sutton, V. R., Pastores, G. M., Lau, H., Sparkes, R., Genter, F., Shaywitz, A. J. & Harmatz, P., Oct 1 2015, In : American Journal of Medical Genetics, Part A. 167, 10, p. 2272-2281 10 p.

Research output: Contribution to journalArticle

Mucopolysaccharidosis IV
Double-Blind Method
Muscle Strength
Keratan Sulfate
Safety
1 Citation (Scopus)
Mucopolysaccharidosis II
Anti-Idiotypic Antibodies
Intravenous Immunoglobulins
Urine
Methotrexate
2014
96 Citations (Scopus)

Efficacy and safety of enzyme replacement therapy with BMN 110 (elosulfase alfa) for Morquio A syndrome (mucopolysaccharidosis IVA): a phase 3 randomised placebo-controlled study

Hendriksz, C. J., Burton, B. K., Fleming, T. R., Harmatz, P., Hughes, D., Jones, S. A., Lin, S. P., Mengel, E., Scarpa, M., Valayannopoulos, V., Giugliani, R., Slasor, P., Lounsbury, D. & Dummer, W., Oct 23 2014, In : Journal of inherited metabolic disease. 37, 6, p. 979-990 12 p.

Research output: Contribution to journalArticle

Mucopolysaccharidosis IV
Mucopolysaccharidoses
Enzyme Replacement Therapy
Keratan Sulfate
Placebos
18 Citations (Scopus)

Enzyme replacement therapy in mucopolysaccharidosis ii patients under 1 year of age

Lampe, C., Atherton, A., Burton, B. K., Descartes, M., Giugliani, R., Horovitz, D. D. G., Kyosen, S. O., Magalhães, T. S. P. C., Martins, A. M., Mendelsohn, N. J., Muenzer, J. & Smith, L. D., Jan 1 2014, JIMD Reports. Springer, p. 99-113 15 p. (JIMD Reports; vol. 14).

Research output: Chapter in Book/Report/Conference proceedingChapter

Mucopolysaccharidoses
Enzyme Replacement Therapy
Mucopolysaccharidosis II
Enzymes
Siblings
1 Citation (Scopus)

Erratum: Phenylalanine hydroxylase deficiency: Diagnosis and management guideline (Genetics in Medicine (2014) 16:2 (188-200) DOI:10.1038/gim.2013.157)

Vockley, J., Andersson, H. C., Antshel, K. M., Braverman, N. E., Burton, B. K., Frazier, D. M., Mitchell, J., Smith, W. E., Thompson, B. H. & Berry, S. A., Jan 1 2014, In : Genetics in Medicine. 16, 4, 1 p.

Research output: Contribution to journalComment/debate

Phenylketonurias
Medicine
Guidelines
17 Citations (Scopus)

Genitourinary defects associated with genomic deletions in 2p15 encompassing OTX1

Jorgez, C. J., Rosenfeld, J. A., Wilken, N. R., Vangapandu, H. V., Sahin, A., Pham, D., Carvalho, C. M. B., Bandholz, A., Miller, A., Weaver, D. D., Burton, B. K., Babu, D., Bamforth, J. S., Wilks, T., Flynn, D. P., Roeder, E., Patel, A., Cheung, S. W., Lupski, J. R. & Lamb, D. J., Sep 1 2014, In : PLoS One. 9, 9, e107028.

Research output: Contribution to journalArticle

genomics
Defects
Genitalia
bladder
genitalia
2 Citations (Scopus)
Mucopolysaccharidosis II
Intensive care units
Transient Tachypnea of the Newborn
Neonatal Intensive Care
Neonatal Intensive Care Units
36 Citations (Scopus)

Liver transplantation for pediatric metabolic disease

Mazariegos, G., Shneider, B., Burton, B. K., Fox, I. J., Hadzic, N., Kishnani, P., Morton, D. H., Mcintire, S., Sokol, R. J., Summar, M., White, D., Chavanon, V. & Vockley, J., Jan 1 2014, In : Molecular Genetics and Metabolism. 111, 4, p. 418-427 10 p.

Research output: Contribution to journalArticle

Pediatrics
Metabolic Diseases
Liver
Liver Transplantation
Liver Diseases