Barbara K Burton

  • 6080 Citations
1973 …2019
If you made any changes in Pure, your changes will be visible here soon.

Research Output 1973 2019

Filter
Review article
2018
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
2017
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
2016
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
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
2013
51 Citations (Scopus)
Mucopolysaccharidosis III
Language Development Disorders
Inborn Genetic Diseases
Attention Deficit Disorder with Hyperactivity
Rare Diseases
2012
21 Citations (Scopus)

A multinational, multidisciplinary consensus for the diagnosis and management of spinal cord compression among patients with mucopolysaccharidosis VI

Solanki, G. A., Alden, T. D., Burton, B. K., Giugliani, R., Horovitz, D. D. G., Jones, S. A., Lampe, C., Martin, K. W., Ryan, M. E., Schaefer, M. K., Siddiqui, A., White, K. K. & Harmatz, P., Sep 1 2012, In : Molecular Genetics and Metabolism. 107, 1-2, p. 15-24 10 p.

Research output: Contribution to journalReview article

Mucopolysaccharidosis VI
Spinal Cord Compression
Compaction
Airway Management
Practice Guidelines
27 Citations (Scopus)

Diagnosing Hunter syndrome in pediatric practice: Practical considerations and common pitfalls

Burton, B. K. & Giugliani, R., Apr 1 2012, In : European Journal of Pediatrics. 171, 4, p. 631-639 9 p.

Research output: Contribution to journalReview article

Mucopolysaccharidosis II
Pediatrics
Family Practice
Family Physicians
Signs and Symptoms
8 Citations (Scopus)
Butyryl-CoA Dehydrogenase
Growth and Development
Newborn Infant
Mutation
Isobutyryl-CoA dehydrogenase deficiency
2010
38 Citations (Scopus)

Importance of surgical history in diagnosing mucopolysaccharidosis type II (Hunter syndrome): Data from the Hunter Outcome Survey

Mendelsohn, N. J., Harmatz, P., Bodamer, O., Burton, B. K., Giugliani, R., Jones, S. A., Lampe, C., Malm, G., Steiner, R. D. & Parini, R., Dec 1 2010, In : Genetics in Medicine. 12, 12, p. 816-822 7 p.

Research output: Contribution to journalReview article

Mucopolysaccharidosis II
History
Carpal Tunnel Syndrome
Hernia
Population
2007

A 30 month old with speech delay

Burton, B. K., Jan 1 2007, In : Pediatric annals. 36, 5, p. 280-281 2 p.

Research output: Contribution to journalReview article

Language Development Disorders
Fragile X Syndrome
Preschool Children
1 Citation (Scopus)

An 8-year-old girl with short stature

Burton, B. K., Jan 1 2007, In : Pediatric Annals. 36, 5, p. 267-268 2 p.

Research output: Contribution to journalReview article

Noonan Syndrome
Growth Disorders
2002

An infant with seizures and acidosis

Listernick, R., Unti, S., Burton, B., Nordli, D., Sullivan, J., Cohn, R. & Charrow, J., Sep 1 2002, In : Pediatric Annals. 31, 9

Research output: Contribution to journalReview article

MELAS Syndrome
Failure to Thrive
Lactic Acidosis
Genetic Counseling
Acidosis
1998
198 Citations (Scopus)

Inborn errors of metabolism in infancy: a guide to diagnosis.

Burton, B. K., Jan 1 1998, In : Pediatrics. 102, 6

Research output: Contribution to journalReview article

Inborn Errors Metabolism
Nonketotic Hyperglycinemia
Smith-Lemli-Opitz Syndrome
Metabolic Brain Diseases
Zellweger Syndrome
1987
26 Citations (Scopus)

Inborn errors of metabolism, the clinical diagnosis in early infancy

Burton, B. K., Jan 1 1987, In : Pediatrics. 79, 3, p. 359-369 11 p.

Research output: Contribution to journalReview article

Inborn Errors Metabolism
Physicians
Metabolic Diseases
Therapeutics
1986
10 Citations (Scopus)

alpha-Fetoprotein screening.

Burton, B. K., Dec 1 1986, In : Advances in Pediatrics. 33, p. 181-196 16 p.

Research output: Contribution to journalReview article

alpha-Fetoproteins
Mothers
Technology
Infant Welfare
Pregnancy
1981

Antenatal diagnosis of metabolic disorders

Burton, B. K. & Nadler, H. L., Jan 1 1981, In : Clinical Obstetrics and Gynecology. 24, 4, p. 1041-1054 14 p.

Research output: Contribution to journalReview article

Prenatal Diagnosis
Inborn Genetic Diseases
Physicians
1980

Antenatal diagnosis of metabolic disorders

Burton, B. K. & Nadler, H. L., Dec 1 1980, In : Clinics in Obstetrics and Gynaecology. 7, 1, p. 27-40 14 p.

Research output: Contribution to journalReview article

Prenatal Diagnosis
Inborn Genetic Diseases
Chromosome Aberrations
1974
20 Citations (Scopus)

Present status of intrauterine diagnosis of genetic defects

Burton, B. K., Gerbie, A. B. & Nadler, H. L., Jan 1 1974, In : American Journal of Obstetrics and Gynecology. 118, 5, p. 718-746 29 p.

Research output: Contribution to journalReview article

Prenatal Diagnosis
Inborn Genetic Diseases
Genetic Counseling
Marriage
Fear