Burton, Barbara K.

Mutation in BAG3 causes severe dominant childhood muscular dystrophy

Selcen, D., Muntoni, F., Burton, B. K., Pegoraro, E., Sewry, C., Bite, A. V., & Engel, A. G. (2009) · Annals of Neurology

Muscle Physiology and DisordersCardiomyopathy and Myosin Studies

Cited by 357

Efficacy of sapropterin dihydrochloride in increasing phenylalanine tolerance in children with phenylketonuria: a phase III, randomized, double-blind, placebo-controlled study

Trefz, F. K., Burton, B. K., Longo, N., Casanova, M. M.-P., Gruskin, D. J., Dorenbaum, A., Kakkis, E. D., Crombez, E. A., Grange, D. K., Harmatz, P., et al. (2009) · The Journal of Pediatrics

Metabolism and Genetic DisordersAmino Acid Enzymes and Metabolism

Cited by 196

Mucopolysaccharidosis type III (Sanfilippo syndrome) and misdiagnosis of idiopathic developmental delay, attention deficit/hyperactivity disorder or autism spectrum disorder

Wijburg, F. A., Węgrzyn, G., Burton, B. K., & Tylki‐Szymańska, A. (2013) · Acta Paediatrica

Lysosomal Storage Disorders ResearchGlycogen Storage Diseases and Myoclonus

Cited by 129

An atypical deletion of the Williams–Beuren syndrome interval implicates genes associated with defective visuospatial processing and autism

Edelmann, L., Prosnitz, A., Pardo, S., Bhatt, J., Cohen, N., Lauriat, T., Ouchanov, L., González, P. J., Manghi, E. R., Bondy, P., et al. (2007) · Journal of Medical Genetics

Williams Syndrome ResearchGenomic variations and chromosomal abnormalities

Cited by 113

Isolated sagittal and coronal craniosynostosis associated with TWIST box mutations

Seto, M. L., Hing, A. V., Chang, J., Hu, M., Kapp‐Simon, K. A., Patel, P. K., Burton, B. K., Kane, A. A., Smyth, M. D., Hopper, R., et al. (2007) · American Journal of Medical Genetics Part A

Craniofacial Disorders and Treatmentsdental development and anomalies

Cited by 108

Sapropterin therapy increases stability of blood phenylalanine levels in patients with BH4-responsive phenylketonuria (PKU)

Burton, B. K., Bausell, H., Katz, R., LaDuca, H., & Sullivan, C. (2010) · Molecular Genetics and Metabolism

Metabolism and Genetic DisordersAmino Acid Enzymes and Metabolism

Cited by 62