Vyzkoušejte nový nástroj s podporou AI
Summon Research Assistant
BETA
Newborn Screening for Lysosomal Storage Disorders in Illinois: The Initial 15-Month Experience
Burton, Barbara K., Charrow, Joel, Hoganson, George E., Waggoner, Darrell, Tinkle, Brad, Braddock, Stephen R., Schneider, Michael, Grange, Dorothy K., Nash, Claudia, Shryock, Heather, Barnett, Rebecca, Shao, Rong, Basheeruddin, Khaja, Dizikes, George
Published in The Journal of pediatrics (01.11.2017)
Published in The Journal of pediatrics (01.11.2017)
Get full text
Journal Article
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 Survey (HOS)
Muenzer, Joseph, Botha, Jaco, Harmatz, Paul, Giugliani, Roberto, Kampmann, Christoph, Burton, Barbara K.
Published in Orphanet journal of rare diseases (30.10.2021)
Published in Orphanet journal of rare diseases (30.10.2021)
Get full text
Journal Article
Triheptanoin for the treatment of long‐chain fatty acid oxidation disorders: Final results of an open‐label, long‐term extension study
Vockley, Jerry, Burton, Barbara K., Berry, Gerard, Longo, Nicola, Phillips, John, Sanchez‐Valle, Amarilis, Chapman, Kimberly A., Tanpaiboon, Pranoot, Grunewald, Stephanie, Murphy, Elaine, Lu, Xiaoxiao, Rahman, Syeda, Ray, Kathryn, Reineking, Bridget, Pisani, Laura, Ramirez, Antonio Nino
Published in Journal of inherited metabolic disease (01.09.2023)
Published in Journal of inherited metabolic disease (01.09.2023)
Get full text
Journal Article
Single-dose, subcutaneous recombinant phenylalanine ammonia lyase conjugated with polyethylene glycol in adult patients with phenylketonuria: an open-label, multicentre, phase 1 dose-escalation trial
Longo, Nicola, Harding, Cary O, Burton, Barbara K, Grange, Dorothy K, Vockley, Jerry, Wasserstein, Melissa, Rice, Gregory M, Dorenbaum, Alejandro, Neuenburg, Jutta K, Musson, Donald G, Gu, Zhonghua, Sile, Saba
Published in The Lancet (British edition) (05.07.2014)
Published in The Lancet (British edition) (05.07.2014)
Get full text
Journal Article
Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease
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.
Published in Orphanet journal of rare diseases (01.02.2018)
Published in Orphanet journal of rare diseases (01.02.2018)
Get full text
Journal Article
Mutation in BAG3 causes severe dominant childhood muscular dystrophy
Selcen, Duygu, Muntoni, Francesco, Burton, Barbara K., Pegoraro, Elena, Sewry, Caroline, Bite, Anna V., Engel, Andrew G.
Published in Annals of neurology (01.01.2009)
Published in Annals of neurology (01.01.2009)
Get full text
Journal Article
Unmet needs of adults living with mucopolysaccharidosis II: data from the Hunter Outcome Survey
Muenzer, Joseph, Amartino, Hernan, Giugliani, Roberto, Harmatz, Paul, Lin, Shuan-Pei, Link, Bianca, Molter, David, Ramaswami, Uma, Scarpa, Maurizio, Botha, Jaco, Audi, Jennifer, Burton, Barbara K.
Published in Orphanet journal of rare diseases (01.07.2025)
Published in Orphanet journal of rare diseases (01.07.2025)
Get full text
Journal Article
Clinical Features of Lysosomal Acid Lipase Deficiency
Burton, Barbara K., Deegan, Patrick B., Enns, Gregory M., Guardamagna, Ornella, Horslen, Simon, Hovingh, Gerard K., Lobritto, Steve J., Malinova, Vera, McLin, Valerie A., Raiman, Julian, Di Rocco, Maja, Santra, Saikat, Sharma, Reena, Sykut‐Cegielska, Jolanta, Whitley, Chester B., Eckert, Stephen, Valayannopoulos, Vassili, Quinn, Anthony G.
Published in Journal of pediatric gastroenterology and nutrition (01.12.2015)
Published in Journal of pediatric gastroenterology and nutrition (01.12.2015)
Get full text
Journal Article
Survey of health status and complications among propionic acidemia patients
Pena, Loren, Burton, Barbara K.
Published in American journal of medical genetics. Part A (01.07.2012)
Published in American journal of medical genetics. Part A (01.07.2012)
Get full text
Journal Article
Mucopolysaccharidosis type III (Sanfilippo syndrome) and misdiagnosis of idiopathic developmental delay, attention deficit/hyperactivity disorder or autism spectrum disorder
Wijburg, Frits A, Węgrzyn, Grzegorz, Burton, Barbara K, Tylki-Szymańska, Anna
Published in Acta Paediatrica (01.05.2013)
Published in Acta Paediatrica (01.05.2013)
Get full text
Journal Article
Neurodevelopmental status and adaptive behavior of pediatric patients with mucopolysaccharidosis II: a longitudinal observational study
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.
Published in Orphanet journal of rare diseases (16.11.2023)
Published in Orphanet journal of rare diseases (16.11.2023)
Get full text
Journal Article
Mucopolysaccharidosis Type I Newborn Screening: Best Practices for Diagnosis and Management
Clarke, Lorne A., Atherton, Andrea M., Burton, Barbara K., Day-Salvatore, Debra L., Kaplan, Paige, Leslie, Nancy D., Scott, C. Ronald, Stockton, David W., Thomas, Janet A., Muenzer, Joseph
Published in The Journal of pediatrics (01.03.2017)
Published in The Journal of pediatrics (01.03.2017)
Get full text
Journal Article
The Morquio A Clinical Assessment Program: Baseline results illustrating progressive, multisystemic clinical impairments in Morquio A subjects
Harmatz, Paul, Mengel, Karl Eugen, Giugliani, Roberto, Valayannopoulos, Vassili, Lin, Shuan-Pei, Parini, Rossella, Guffon, Nathalie, Burton, Barbara K., Hendriksz, Christian J., Mitchell, John, Martins, Ana, Jones, Simon, Guelbert, Norberto, Vellodi, Ashok, Hollak, Carla, Slasor, Peter, Decker, Celeste
Published in Molecular genetics and metabolism (01.05.2013)
Published in Molecular genetics and metabolism (01.05.2013)
Get full text
Journal Article
Long-term safety and efficacy of pegvaliase for the treatment of phenylketonuria in adults: combined phase 2 outcomes through PAL-003 extension study
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.
Published in Orphanet journal of rare diseases (04.07.2018)
Published in Orphanet journal of rare diseases (04.07.2018)
Get full text
Journal Article
Population-Based Newborn Screening for Mucopolysaccharidosis Type II in Illinois: The First Year Experience
Burton, Barbara K., Hoganson, George E., Fleischer, Julie, Grange, Dorothy K., Braddock, Stephen R., Hickey, Rachel, Hitchins, Lauren, Groepper, Daniel, Christensen, Katherine M., Kirby, Amelia, Moody, Conny, Shryock, Heather, Ashbaugh, Laura, Shao, Rong, Basheeruddin, Khaja
Published in The Journal of pediatrics (01.11.2019)
Published in The Journal of pediatrics (01.11.2019)
Get full text
Journal Article
A Systematic Literature Review on the Global Status of Newborn Screening for Mucopolysaccharidosis II
Ayodele, Olulade, Fertek, Daniel, Evuarherhe, Obaro, Siffel, Csaba, Audi, Jennifer, Yee, Karen S., Burton, Barbara K.
Published in International journal of neonatal screening (01.12.2024)
Published in International journal of neonatal screening (01.12.2024)
Get full text
Journal Article
Newborn Screening for Mucopolysaccharidosis Type II in Illinois: An Update
Burton, Barbara K., Hickey, Rachel, Hitchins, Lauren
Published in International journal of neonatal screening (03.09.2020)
Published in International journal of neonatal screening (03.09.2020)
Get full text
Journal Article
Ten years of the Hunter Outcome Survey (HOS): insights, achievements, and lessons learned from a global patient registry
Muenzer, Joseph, Jones, Simon A., Tylki-Szymańska, Anna, Harmatz, Paul, Mendelsohn, Nancy J., Guffon, Nathalie, Giugliani, Roberto, Burton, Barbara K., Scarpa, Maurizio, Beck, Michael, Jangelind, Yvonne, Hernberg-Stahl, Elizabeth, Larsen, Maria Paabøl, Pulles, Tom, Whiteman, David A. H.
Published in Orphanet journal of rare diseases (02.05.2017)
Published in Orphanet journal of rare diseases (02.05.2017)
Get full text
Journal Article