Pesquisa | Biblioteca Virtual em Saúde

1.

De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.

Shashi, Vandana; Pena, Loren D M; Kim, Katherine; Burton, Barbara; Hempel, Maja; Schoch, Kelly; Walkiewicz, Magdalena; McLaughlin, Heather M; Cho, Megan; Stong, Nicholas; Hickey, Scott E; Shuss, Christine M; Freemark, Michael S; Bellet, Jane S; Keels, Martha Ann; Bonner, Melanie J; El-Dairi, Maysantoine; Butler, Megan; Kranz, Peter G; Stumpel, Constance T R M; Klinkenberg, Sylvia; Oberndorff, Karin; Alawi, Malik; Santer, Rene; Petrovski, Slavé; Kuismin, Outi; Korpi-Heikkilä, Satu; Pietilainen, Olli; Aarno, Palotie; Kurki, Mitja I; Hoischen, Alexander; Need, Anna C; Goldstein, David B; Kortüm, Fanny.

Am J Hum Genet; 99(4): 991-999, 2016 Oct 06.

Artigo em Inglês | MEDLINE | ID: mdl-27693232

2.

Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuria.

Longo, Nicola; Dimmock, David; Levy, Harvey; Viau, Krista; Bausell, Heather; Bilder, Deborah A; Burton, Barbara; Gross, Christel; Northrup, Hope; Rohr, Fran; Sacharow, Stephanie; Sanchez-Valle, Amarilis; Stuy, Mary; Thomas, Janet; Vockley, Jerry; Zori, Roberto; Harding, Cary O.

Genet Med; 21(8): 1851-1867, 2019 08.

Artigo em Inglês | MEDLINE | ID: mdl-30546086

3.

Long-term comparative effectiveness of pegvaliase versus standard of care comparators in adults with phenylketonuria.

Zori, Roberto; Ahring, Kirsten; Burton, Barbara; Pastores, Gregory M; Rutsch, Frank; Jha, Ashok; Jurecki, Elaina; Rowell, Richard; Harding, Cary.

Mol Genet Metab; 128(1-2): 92-101, 2019.

Artigo em Inglês | MEDLINE | ID: mdl-31439512

4.

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 Nov.

Artigo em Inglês | MEDLINE | ID: mdl-31477379

5.

Genetic variants in the KDM6B gene are associated with neurodevelopmental delays and dysmorphic features.

Stolerman, Elliot S; Francisco, Elizabeth; Stallworth, Jennifer L; Jones, Julie R; Monaghan, Kristin G; Keller-Ramey, Jennifer; Person, Richard; Wentzensen, Ingrid M; McWalter, Kirsty; Keren, Boris; Heron, Benedicte; Nava, Caroline; Heron, Delphine; Kim, Katherine; Burton, Barbara; Al-Musafri, Fatima; O'Grady, Lauren; Sahai, Inderneel; Escobar, Luis F; Meuwissen, Marije; Reyniers, Edwin; Kooy, Frank; Lacassie, Yves; Gunay-Aygun, Meral; Schatz, Krista Sondergaard; Hochstenbach, Ron; Zwijnenburg, Petra J G; Waisfisz, Quinten; van Slegtenhorst, Marjon; Mancini, Grazia M S; Louie, Raymond J.

Am J Med Genet A; 179(7): 1276-1286, 2019 Jul.

Artigo em Inglês | MEDLINE | ID: mdl-31124279

6.

Results from a 78-week, single-arm, open-label phase 2 study to evaluate UX007 in pediatric and adult patients with severe long-chain fatty acid oxidation disorders (LC-FAOD).

Vockley, Jerry; Burton, Barbara; Berry, Gerard T; Longo, Nicola; Phillips, John; Sanchez-Valle, Amarilis; Tanpaiboon, Pranoot; Grunewald, Stephanie; Murphy, Elaine; Bowden, Alexandra; Chen, Wencong; Chen, Chao-Yin; Cataldo, Jason; Marsden, Deborah; Kakkis, Emil.

J Inherit Metab Dis; 42(1): 169-177, 2019 01.

Artigo em Inglês | MEDLINE | ID: mdl-30740733

7.

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

8.

Correction: TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants.

Dines, Jennifer N; Golden-Grant, Katie; LaCroix, Amy; Muir, Alison M; Cintrón, Dianne Laboy; McWalter, Kirsty; Cho, Megan T; Sun, Angela; Merritt, J Lawrence; Thies, Jenny; Niyazov, Dmitriy; Burton, Barbara; Kim, Katherine; Fleming, Leah; Westman, Rachel; Karachunski, Peter; Dalton, Joline; Basinger, Alice; Ficicioglu, Can; Helbig, Ingo; Pendziwiat, Manuela; Muhle, Hiltrud; Helbig, Katherine L; Caliebe, Almuth; Santer, René; Becker, Kolja; Suchy, Sharon; Douglas, Ganka; Millan, Francisca; Begtrup, Amber; Monaghan, Kristin G; Mefford, Heather C.

Genet Med; 2018 Oct 15.

Artigo em Inglês | MEDLINE | ID: mdl-30327536

9.

TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants.

Dines, Jennifer N; Golden-Grant, Katie; LaCroix, Amy; Muir, Alison M; Cintrón, Dianne Laboy; McWalter, Kirsty; Cho, Megan T; Sun, Angela; Merritt, J Lawrence; Thies, Jenny; Niyazov, Dmitriy; Burton, Barbara; Kim, Katherine; Fleming, Leah; Westman, Rachel; Karachunski, Peter; Dalton, Joline; Basinger, Alice; Ficicioglu, Can; Helbig, Ingo; Pendziwiat, Manuela; Muhle, Hiltrud; Helbig, Katherine L; Caliebe, Almuth; Santer, René; Becker, Kolja; Suchy, Sharon; Douglas, Ganka; Millan, Francisca; Begtrup, Amber; Monaghan, Kristin G; Mefford, Heather C.

Genet Med; 2018 Sep 24.

Artigo em Inglês | MEDLINE | ID: mdl-30245509

10.

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

11.

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 May.

Artigo em Inglês | MEDLINE | ID: mdl-29628378

12.

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 Nov.

Artigo em Inglês | MEDLINE | ID: mdl-30266197

13.

Results from a 78-week, single-arm, open-label Phase 2 study to evaluate UX007 in pediatric and adult patients with severe long-chain fatty acid oxidation disorders (LC-FAOD).

Vockley, Jerry; Burton, Barbara; Berry, Gerard T; Longo, Nicola; Phillips, John; Sanchez-Valle, Amarilis; Tanpaiboon, Pranoot; Grunewald, Stephanie; Murphy, Elaine; Bowden, Alexandra; Chen, Wencong; Chen, Chao-Yin; Cataldo, Jason; Marsden, Deborah; Kakkis, Emil.

J Inherit Metab Dis; 2018 Jul 09.

Artigo em Inglês | MEDLINE | ID: mdl-29987492

14.

A longitudinal study of housing status and crime in a homeless population.

Burton, Barbara; Pollio, David E; North, Carol S.

Ann Clin Psychiatry; 30(4): 280-288, 2018 Nov.

Artigo em Inglês | MEDLINE | ID: mdl-30372505

15.

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 Nov.

Artigo em Inglês | MEDLINE | ID: mdl-28728811

16.

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

17.

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

18.

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

19.

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

20.

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

Biblioteca Virtual em Saúde

Brasil

Sua seleção (0)

Formato de exportação:

Exportar: