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1.

The Genetic Landscape and Epidemiology of Phenylketonuria.

Hillert, Alicia; Anikster, Yair; Belanger-Quintana, Amaya; Burlina, Alberto; Burton, Barbara K; Carducci, Carla; Chiesa, Ana E; Christodoulou, John; Dordevic, Maja; Desviat, Lourdes R; Eliyahu, Aviva; Evers, Roeland A F; Fajkusova, Lena; Feillet, François; Bonfim-Freitas, Pedro E; Gizewska, Maria; Gundorova, Polina; Karall, Daniela; Kneller, Katya; Kutsev, Sergey I; Leuzzi, Vincenzo; Levy, Harvey L; Lichter-Konecki, Uta; Muntau, Ania C; Namour, Fares; Oltarzewski, Mariusz; Paras, Andrea; Perez, Belen; Polak, Emil; Polyakov, Alexander V; Porta, Francesco; Rohrbach, Marianne; Scholl-Bürgi, Sabine; Spécola, Norma; Stojiljkovic, Maja; Shen, Nan; Santana-da Silva, Luiz C; Skouma, Anastasia; van Spronsen, Francjan; Stoppioni, Vera; Thöny, Beat; Trefz, Friedrich K; Vockley, Jerry; Yu, Youngguo; Zschocke, Johannes; Hoffmann, Georg F; Garbade, Sven F; Blau, Nenad.

Am J Hum Genet ; 107(2): 234-250, 2020 08 06.

Artigo em Inglês | MEDLINE | ID: mdl-32668217

2.

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

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.

Mol Genet Metab ; 132(2): 119-127, 2021 02.

Artigo em Inglês | MEDLINE | ID: mdl-33485801

3.

Characterization of disease-specific chondroitin sulfate nonreducing end accumulation in mucopolysaccharidosis IVA.

Lawrence, Roger; Prill, Heather; Vachali, Preejith P; Adintori, Evan G; de Hart, Greg; Wang, Raymond Y; Burton, Barbara K; Pasquali, Marzia; Crawford, Brett E.

Glycobiology ; 30(7): 433-445, 2020 07 20.

Artigo em Inglês | MEDLINE | ID: mdl-31897472

4.

Pegvaliase for the treatment of phenylketonuria: Results of the phase 2 dose-finding studies with long-term follow-up.

Burton, Barbara K; Longo, Nicola; Vockley, Jerry; Grange, Dorothy K; Harding, Cary O; Decker, Celeste; Li, Mingjin; Lau, Kelly; Rosen, Orli; Larimore, Kevin; Thomas, Janet.

Mol Genet Metab ; 130(4): 239-246, 2020 08.

Artigo em Inglês | MEDLINE | ID: mdl-32593547

5.

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.

J Pediatr ; 214: 165-167.e1, 2019 11.

Artigo em Inglês | MEDLINE | ID: mdl-31477379

6.

A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency.

Burton, Barbara K; Balwani, Manisha; Feillet, François; Baric, Ivo; Burrow, T Andrew; Camarena Grande, Carmen; Coker, Mahmut; Consuelo-Sánchez, Alejandra; Deegan, Patrick; Di Rocco, Maja; Enns, Gregory M; Erbe, Richard; Ezgu, Fatih; Ficicioglu, Can; Furuya, Katryn N; Kane, John; Laukaitis, Christina; Mengel, Eugen; Neilan, Edward G; Nightingale, Scott; Peters, Heidi; Scarpa, Maurizio; Schwab, K Otfried; Smolka, Vratislav; Valayannopoulos, Vassili; Wood, Marnie; Goodman, Zachary; Yang, Yijun; Eckert, Stephen; Rojas-Caro, Sandra; Quinn, Anthony G.

N Engl J Med ; 373(11): 1010-20, 2015 Sep 10.

Artigo em Inglês | MEDLINE | ID: mdl-26352813

7.

Pegvaliase for the treatment of phenylketonuria: A pivotal, double-blind randomized discontinuation Phase 3 clinical trial.

Harding, Cary O; Amato, R Stephen; Stuy, Mary; Longo, Nicola; Burton, Barbara K; Posner, John; Weng, Haoling H; Merilainen, Markus; Gu, Zhonghua; Jiang, Joy; Vockley, Jerry.

Mol Genet Metab ; 124(1): 20-26, 2018 05.

Artigo em Inglês | MEDLINE | ID: mdl-29628378

8.

Prevalence of comorbid conditions among adult patients diagnosed with phenylketonuria.

Burton, Barbara K; Jones, Kyle Bradford; Cederbaum, Stephen; Rohr, Fran; Waisbren, Susan; Irwin, Debra E; Kim, Gilwan; Lilienstein, Joshua; Alvarez, Ignacio; Jurecki, Elaina; Levy, Harvey.

Mol Genet Metab ; 125(3): 228-234, 2018 11.

Artigo em Inglês | MEDLINE | ID: mdl-30266197

9.

Impact of long-term elosulfase alfa on activities of daily living in patients with Morquio A syndrome in an open-label, multi-center, phase 3 extension study.

Hendriksz, Christian J; Parini, Rossella; AlSayed, Moeenaldeen D; Raiman, Julian; Giugliani, Roberto; Mitchell, John J; Burton, Barbara K; Guelbert, Norberto; Stewart, Fiona J; Hughes, Derralynn A; Matousek, Robert; Hawley, Sara M; Decker, Celeste; Harmatz, Paul R.

Mol Genet Metab ; 123(2): 127-134, 2018 02.

Artigo em Inglês | MEDLINE | ID: mdl-29248359

10.

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.

J Pediatr ; 190: 130-135, 2017 11.

Artigo em Inglês | MEDLINE | ID: mdl-28728811

11.

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

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.

Am J Med Genet A ; 173(2): 375-383, 2017 Feb.

Artigo em Inglês | MEDLINE | ID: mdl-27774754

12.

Survival in idursulfase-treated and untreated patients with mucopolysaccharidosis type II: data from the Hunter Outcome Survey (HOS).

Burton, Barbara K; Jego, Virginie; Mikl, Jaromir; Jones, Simon A.

J Inherit Metab Dis ; 40(6): 867-874, 2017 11.

Artigo em Inglês | MEDLINE | ID: mdl-28887757

13.

221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative.

Bentler, Kristi; Zhai, Shaohui; Elsbecker, Sara A; Arnold, Georgianne L; Burton, Barbara K; Vockley, Jerry; Cameron, Cynthia A; Hiner, Sally J; Edick, Mathew J; Berry, Susan A.

Mol Genet Metab ; 119(1-2): 75-82, 2016 09.

Artigo em Inglês | MEDLINE | ID: mdl-27477829

14.

Long-term endurance and safety of elosulfase alfa enzyme replacement therapy in patients with Morquio A syndrome.

Hendriksz, Christian J; Parini, Rossella; AlSayed, Moeenaldeen D; Raiman, Julian; Giugliani, Roberto; Solano Villarreal, Martha L; Mitchell, John J; Burton, Barbara K; Guelbert, Norberto; Stewart, Fiona; Hughes, Derralynn A; Berger, Kenneth I; Slasor, Peter; Matousek, Robert; Jurecki, Elaina; Shaywitz, Adam J; Harmatz, Paul R.

Mol Genet Metab ; 119(1-2): 131-43, 2016 09.

Artigo em Inglês | MEDLINE | ID: mdl-27380995

15.

Immune response to enzyme replacement therapies in lysosomal storage diseases and the role of immune tolerance induction.

Kishnani, Priya S; Dickson, Patricia I; Muldowney, Laurie; Lee, Jessica J; Rosenberg, Amy; Abichandani, Rekha; Bluestone, Jeffrey A; Burton, Barbara K; Dewey, Maureen; Freitas, Alexandra; Gavin, Derek; Griebel, Donna; Hogan, Melissa; Holland, Stephen; Tanpaiboon, Pranoot; Turka, Laurence A; Utz, Jeanine J; Wang, Yow-Ming; Whitley, Chester B; Kazi, Zoheb B; Pariser, Anne R.

Mol Genet Metab ; 117(2): 66-83, 2016 Feb.

Artigo em Inglês | MEDLINE | ID: mdl-26597321

16.

In vivo monitoring of urea cycle activity with (13)C-acetate as a tracer of ureagenesis.

Opladen, Thomas; Lindner, Martin; Das, Anibh M; Marquardt, Thorsten; Khan, Aneal; Emre, Sukru H; Burton, Barbara K; Barshop, Bruce A; Böhm, Thea; Meyburg, Jochen; Zangerl, Kathrin; Mayorandan, Sebene; Burgard, Peter; Dürr, Ulrich H N; Rosenkranz, Bernd; Rennecke, Jörg; Derbinski, Jens; Yudkoff, Marc; Hoffmann, Georg F.

Mol Genet Metab ; 117(1): 19-26, 2016 Jan.

Artigo em Inglês | MEDLINE | ID: mdl-26597322

17.

Impact of long-term elosulfase alfa treatment on respiratory function in patients with Morquio A syndrome.

Hendriksz, Christian J; Berger, Kenneth I; Parini, Rossella; AlSayed, Moeenaldeen D; Raiman, Julian; Giugliani, Roberto; Mitchell, John J; Burton, Barbara K; Guelbert, Norberto; Stewart, Fiona; Hughes, Derralynn A; Matousek, Robert; Jurecki, Elaina; Decker, Celeste; Harmatz, Paul R.

J Inherit Metab Dis ; 39(6): 839-847, 2016 11.

Artigo em Inglês | MEDLINE | ID: mdl-27553181

18.

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.

Lancet ; 384(9937): 37-44, 2014 Jul 05.

Artigo em Inglês | MEDLINE | ID: mdl-24743000

19.

Long-term developmental progression in infants and young children taking sapropterin for phenylketonuria: a two-year analysis of safety and efficacy.

Longo, Nicola; Siriwardena, Komudi; Feigenbaum, Annette; Dimmock, David; Burton, Barbara K; Stockler, Sylvia; Waisbren, Susan; Lang, William; Jurecki, Elaina; Zhang, Charlie; Prasad, Suyash.

Genet Med ; 17(5): 365-73, 2015 May.

Artigo em Inglês | MEDLINE | ID: mdl-25232857

20.

Longitudinal analysis of endurance and respiratory function from a natural history study of Morquio A syndrome.

Harmatz, Paul R; Mengel, Karl Eugen; Giugliani, Roberto; Valayannopoulos, Vassili; Lin, Shuan-Pei; Parini, Rossella; Guffon, Nathalie; Burton, Barbara K; Hendriksz, Christian J; Mitchell, John J; Martins, Ana Maria; Jones, Simon A; Guelbert, Norberto; Vellodi, Ashok; Wijburg, Frits A; Yang, Ke; Slasor, Peter; Decker, Celeste.

Mol Genet Metab ; 114(2): 186-94, 2015 Feb.

Artigo em Inglês | MEDLINE | ID: mdl-25582974

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