Torthaí cuardaigh - Burton, Barbara

Diagnosing Hunter syndrome in pediatric practice: practical considerations and common pitfalls de réir Burton, Barbara K., Giugliani, Roberto

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Diagnosis and Clinical Management of Long-chain Fatty-acid Oxidation Disorders: A Review de réir Baker, Joshua J, Burton, Barbara K

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Newborn Screening for Mucopolysaccharidosis Type II in Illinois: An Update de réir Burton, Barbara K., Hickey, Rachel, Hitchins, Lauren

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Congenital scalp defects with distal limb anomalies: Report of a family de réir Burton, Barbara K., Hauser, Lynn, Nadler, Henry L.

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Successful reduction of high-sustained anti-idursulfase antibody titers by immune modulation therapy in a patient with severe mucopolysaccharidosis type II de réir Kim, Katherine H., Messinger, Yoav H., Burton, Barbara K.

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Mucopolysaccharidosis type III (Sanfilippo syndrome) and misdiagnosis of idiopathic developmental delay, attention deficit/hyperactivity disorder or autism spectrum disorder de réir Wijburg, Frits A, Węgrzyn, Grzegorz, Burton, Barbara K, Tylki-Szymańska, Anna

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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... de réir Muenzer, Joseph, Botha, Jaco, Harmatz, Paul, Giugliani, Roberto, Kampmann, Christoph, Burton, Barbara K.

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Case report: A case of Norrie disease due to deletion of the entire coding region of NDP gene de réir Zhou, Yujia, Shapiro, Michael J., Burton, Barbara K., Mets, Marilyn B., Kurup, Sudhi P.

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Newborn Screening for X-Linked Adrenoleukodystrophy: The Initial Illinois Experience de réir Burton, Barbara K., Hickey, Rachel, Hitchins, Lauren, Shively, Vera, Ehrhardt, Joan, Ashbaugh, Laura, Peng, Yin, Basheeruddin, Khaja

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Mutation in BAG3 Causes Severe Dominant Childhood Muscular Dystrophy de réir Selcen, Duygu, Muntoni, Francesco, Burton, Barbara K., MD, Elena Pegoraro, Sewry, Caroline, Bite, Anna V., Engel, Andrew G.

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N-carbamylglutamate Markedly Enhances Ureagenesis in N-acetylglutamate Deficiency and Propionic Acidemia as Measured by Isotopic Incorporation and Blood Biomarkers de réir Tuchman, Mendel, Caldovic, Ljubica, Daikhin, Yevgeny, Horyn, Oksana, Nissim, Ilana, Nissim, Itzhak, Korson, Mark, Burton, Barbara, Yudkoff, Marc

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Long-term comparative effectiveness of pegvaliase versus standard of care comparators in adults with phenylketonuria de réir Zori, Roberto, Ahring, Kirsten, Burton, Barbara, Pastores, Gregory M., Rutsch, Frank, Jha, Ashok, Jurecki, Elaina, Rowell, Richard, Harding, Cary

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A Cerebrospinal Fluid Collection Study in Pediatric and Adult Patients With Hunter Syndrome de réir Hendriksz, Christian J., Muenzer, Joseph, Burton, Barbara K., Pan, Luying, Wang, Nan, Naimy, Hicham, Pano, Arian, Barbier, Ann J.

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Evaluation of Two Methods for Quantification of Glycosaminoglycan Biomarkers in Newborn Dried Blood Spots from Patients with Severe and Attenuated Mucopolysaccharidosis Type II de réir Herbst, Zackary M., Urdaneta, Leslie, Klein, Terri, Burton, Barbara K., Basheeruddin, Khaja, Liao, Hsuan-Chieh, Fuller, Maria, Gelb, Michael H.

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Long-term experience with enzyme replacement therapy (ERT) in MPS II patients with a severe phenotype: an international case series de réir Lampe, Christina, Bosserhoff, Ann-Kathrin, Burton, Barbara K., Giugliani, Roberto, de Souza, Carolina F., Bittar, Camila, Muschol, Nicole, Olson, Rebecca, Mendelsohn, Nancy J.

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The role of enzyme replacement therapy in severe Hunter syndrome—an expert panel consensus de réir Muenzer, Joseph, Bodamer, Olaf, Burton, Barbara, Clarke, Lorne, Frenking, Gudrun Schulze, Giugliani, Roberto, Jones, Simon, Rojas, Maria Verónica Muñoz, Scarpa, Maurizio, Beck, Michael, Harmatz, Paul

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Phase 1 Trial of Subcutaneous rAvPAL-PEG in Subjects with Phenylketonuria de réir Longo, Nicola, Harding, Cary O., Burton, Barbara K., Grange, Dorothy K., Vockley, Jerry, Wasserstein, Melissa, Rice, Gregory M., Musson, Donald G., Gu, Zhonghua, Sile, Saba

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

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

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Effects of triheptanoin (UX007) in patients with long‐chain fatty acid oxidation disorders: Results from an open‐label, long‐term extension study de réir Vockley, Jerry, Burton, Barbara, Berry, Gerard, Longo, Nicola, Phillips, John, Sanchez‐Valle, Amarilis, Chapman, Kimberly, Tanpaiboon, Pranoot, Grunewald, Stephanie, Murphy, Elaine, Lu, Xiaoxiao, Cataldo, Jason

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