Response to Drs. Strong and Ficicioglu

por Burton, Barbara K.
Publicado 2023

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

por Burton, Barbara K., Giugliani, Roberto
Publicado 2012

Newborn Screening for Mucopolysaccharidosis Type II in Illinois: An Update

por Burton, Barbara K., Hickey, Rachel, Hitchins, Lauren
Publicado 2020

Successful reduction of high-sustained anti-idursulfase antibody titers by immune modulation therapy in a patient with severe mucopolysaccharidosis type II

por Kim, Katherine H., Messinger, Yoav H., Burton, Barbara K.
Publicado 2014

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

por Wijburg, Frits A, Węgrzyn, Grzegorz, Burton, Barbara K, Tylki-Szymańska, Anna
Publicado 2013

Pegvaliase dose escalation to 80 mg daily may lead to efficacy in patients who do not exhibit an optimal response at lower doses

por Vucko, Erika R., Havens, Kirsten E., Baker, Joshua J., Burton, Barbara K.
Publicado 2022

Evaluation of the long-term treatment effects of intravenous idursulfase in patients with mucopolysaccharidosis II (MPS II) using statistical modeling: data from the Hunter Outcome...

por Muenzer, Joseph, Botha, Jaco, Harmatz, Paul, Giugliani, Roberto, Kampmann, Christoph, Burton, Barbara K.
Publicado 2021

Case report: A case of Norrie disease due to deletion of the entire coding region of NDP gene

por Zhou, Yujia, Shapiro, Michael J., Burton, Barbara K., Mets, Marilyn B., Kurup, Sudhi P.
Publicado 2021

Development of high sustained anti-drug antibody titers and corresponding clinical decline in a late-onset Pompe disease patient after 11+ years on enzyme replacement therapy

por Kim, Katherine H., Desai, Ankit K., Vucko, Erika R., Boggs, Tracy, Kishnani, Priya S., Burton, Barbara K.
Publicado 2023

Newborn Screening for X-Linked Adrenoleukodystrophy: The Initial Illinois Experience

por Burton, Barbara K., Hickey, Rachel, Hitchins, Lauren, Shively, Vera, Ehrhardt, Joan, Ashbaugh, Laura, Peng, Yin, Basheeruddin, Khaja
Publicado 2022

Evaluation of Two Methods for Quantification of Glycosaminoglycan Biomarkers in Newborn Dried Blood Spots from Patients with Severe and Attenuated Mucopolysaccharidosis Type II

por Herbst, Zackary M., Urdaneta, Leslie, Klein, Terri, Burton, Barbara K., Basheeruddin, Khaja, Liao, Hsuan-Chieh, Fuller, Maria, Gelb, Michael H.
Publicado 2022

Long-term experience with enzyme replacement therapy (ERT) in MPS II patients with a severe phenotype: an international case series

por Lampe, Christina, Bosserhoff, Ann-Kathrin, Burton, Barbara K., Giugliani, Roberto, de Souza, Carolina F., Bittar, Camila, Muschol, Nicole, Olson, Rebecca, Mendelsohn, Nancy J.
Publicado 2014

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

por Hendriksz, Christian J., Muenzer, Joseph, Vanderver, Adeline, Davis, Jonathan M., Burton, Barbara K., Mendelsohn, Nancy J., Wang, Nan, Pan, Luying, Pano, Arian, Barbier, Ann J.
Publicado 2015

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

por Longo, Nicola, Zori, Roberto, Wasserstein, Melissa P., Vockley, Jerry, Burton, Barbara K., Decker, Celeste, Li, Mingjin, Lau, Kelly, Jiang, Joy, Larimore, Kevin, Thomas, Janet A.
Publicado 2018

Long-term preservation of intellectual functioning in sapropterin-treated infants and young children with phenylketonuria: A seven-year analysis

por Waisbren, Susan, Burton, Barbara K., Feigenbaum, Annette, Konczal, Laura L., Lilienstein, Joshua, McCandless, Shawn E., Rowell, Richard, Sanchez-Valle, Amarilis, Whitehall, Kaleigh B., Longo, Nicola
Publicado 2021

Real-world treatment, dosing, and discontinuation patterns among patients treated with pegvaliase for phenylketonuria: Evidence from dispensing data

por Lah, Melissa, Cook, Keziah, Gomes, Dumingu Aparna, Liu, Stephanie, Tabatabaeepour, Nadia, Kirson, Noam, Chen, Er, Lindstrom, Kristin, Whitehall, Kaleigh Bulloch, Van Backle, Joost, Burton, Barbara K.
Publicado 2022

Neurodevelopmental status and adaptive behavior of pediatric patients with mucopolysaccharidosis II: a longitudinal observational study

por Muenzer, Joseph, Burton, Barbara K., Amartino, Hernan M., Harmatz, Paul R., Gutiérrez-Solana, Luis González, Ruiz-Garcia, Matilde, Wu, Yuna, Merberg, David, Alexanderian, David, Jones, Simon A.
Publicado 2023

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

por Harmatz, Paul R., Mengel, Eugen, Geberhiwot, Tarekegn, Muschol, Nicole, Hendriksz, Christian J., Burton, Barbara K., Jameson, Elisabeth, Berger, Kenneth I., Jester, Andrea, Treadwell, Marsha, Sisic, Zlatko, Decker, Celeste
Publicado 2016

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

por Kwon, Jennifer M., Matern, Dietrich, Kurtzberg, Joanne, Wrabetz, Lawrence, Gelb, Michael H., Wenger, David A., Ficicioglu, Can, Waldman, Amy T., Burton, Barbara K., Hopkins, Patrick V., Orsini, Joseph J.
Publicado 2018

A non-interventional observational study to identify and validate clinical outcome assessments for adults with phenylketonuria for use in clinical trials

por Burton, Barbara K., Skalicky, Anne, Baerwald, Christoph, Bilder, Deborah A., Harding, Cary O., Ilan, Aaron B., Jurecki, Elaina, Longo, Nicola, Madden, David T., Sivri, H. Serap, Wilcox, Gisela, Thomas, Janet, Delaney, Kathleen
Publicado 2021