Pesquisa | Portal de Pesquisa da BVS

1.

Enzyme replacement therapy initiated in adulthood: Findings from the mucopolysaccharidosis VI Clinical Surveillance Program.

Lampe, Christina; Harmatz, Paul R; Parini, Rossella; Sharma, Reena; Teles, Elisa Leão; Johnson, Julie; Sivam, Debbie; Sisic, Zlatko.

Mol Genet Metab ; 127(4): 355-360, 2019 08.

Artigo em Inglês | MEDLINE | ID: mdl-31324526

2.

Enzyme replacement therapy outcomes across the disease spectrum: Findings from the mucopolysaccharidosis VI Clinical Surveillance Program.

Harmatz, Paul R; Lampe, Christina; Parini, Rossella; Sharma, Reena; Teles, Elisa L; Johnson, Julie; Sivam, Debbie; Sisic, Zlatko.

J Inherit Metab Dis ; 42(3): 519-526, 2019 05.

Artigo em Inglês | MEDLINE | ID: mdl-30834539

3.

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

4.

Spinal cord issues in adult patients with MPS: transition of care survey.

Ghotme, Kemel A; Alvarado-Gomez, Fernando; Lampe, Christina; White, Klane K; Solano-Villareal, Martha; Giugliani, Roberto; Harmatz, Paul R.

Childs Nerv Syst ; 34(9): 1759-1765, 2018 09.

Artigo em Inglês | MEDLINE | ID: mdl-29804213

5.

Surgical management of neurological manifestations of mucopolysaccharidosis disorders.

Alden, Tord D; Amartino, Hernán; Dalla Corte, Amauri; Lampe, Christina; Harmatz, Paul R; Vedolin, Leonardo.

Mol Genet Metab ; 122S: 41-48, 2017 12.

Artigo em Inglês | MEDLINE | ID: mdl-29153846

6.

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

7.

The natural history of growth in patients with Hunter syndrome: Data from the Hunter Outcome Survey (HOS).

Parini, Rossella; Jones, Simon A; Harmatz, Paul R; Giugliani, Roberto; Mendelsohn, Nancy J.

Mol Genet Metab ; 117(4): 438-46, 2016 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-26846156

8.

Cervical cord compression in mucopolysaccharidosis VI (MPS VI): Findings from the MPS VI Clinical Surveillance Program (CSP).

Solanki, Guirish A; Sun, Peter P; Martin, Kenneth W; Hendriksz, Christian J; Lampe, Christina; Guffon, Nathalie; Hung, Annie; Sisic, Zlatko; Shediac, Renée; Harmatz, Paul R.

Mol Genet Metab ; 118(4): 310-8, 2016 08.

Artigo em Inglês | MEDLINE | ID: mdl-27339555

9.

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

10.

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

11.

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

12.

Mechanisms of plasma non-transferrin bound iron generation: insights from comparing transfused diamond blackfan anaemia with sickle cell and thalassaemia patients.

Porter, John B; Walter, Patrick B; Neumayr, Lynne D; Evans, Patricia; Bansal, Sukhvinder; Garbowski, Maciej; Weyhmiller, Marcela G; Harmatz, Paul R; Wood, John C; Miller, Jeffery L; Byrnes, Colleen; Weiss, Guenter; Seifert, Markus; Grosse, Regine; Grabowski, Dagmar; Schmidt, Angelica; Fischer, Roland; Nielsen, Peter; Niemeyer, Charlotte; Vichinsky, Elliott.

Br J Haematol ; 167(5): 692-6, 2014 Dec.

Artigo em Inglês | MEDLINE | ID: mdl-25209728

13.

Galsulfase (Naglazyme®) therapy in infants with mucopolysaccharidosis VI.

Harmatz, Paul R; Garcia, Paula; Guffon, Nathalie; Randolph, Linda M; Shediac, Renée; Braunlin, Elizabeth; Lachman, Ralph S; Decker, Celeste.

J Inherit Metab Dis ; 37(2): 277-87, 2014 Mar.

Artigo em Inglês | MEDLINE | ID: mdl-24108527

14.

Anaesthesia and airway management in mucopolysaccharidosis.

Walker, Robert; Belani, Kumar G; Braunlin, Elizabeth A; Bruce, Iain A; Hack, Henrik; Harmatz, Paul R; Jones, Simon; Rowe, Richard; Solanki, Guirish A; Valdemarsson, Barbara.

J Inherit Metab Dis ; 36(2): 211-9, 2013 Mar.

Artigo em Inglês | MEDLINE | ID: mdl-23197104

15.

Spinal involvement in mucopolysaccharidosis IVA (Morquio-Brailsford or Morquio A syndrome): presentation, diagnosis and management.

Solanki, Guirish A; Martin, Kenneth W; Theroux, Mary C; Lampe, Christina; White, Klane K; Shediac, Renée; Lampe, Christian G; Beck, Michael; Mackenzie, William G; Hendriksz, Christian J; Harmatz, Paul R.

J Inherit Metab Dis ; 36(2): 339-55, 2013 Mar.

Artigo em Inglês | MEDLINE | ID: mdl-23385297

16.

Outcomes of a Physician Survey on the Type, Progression, Assessment, and Treatment of Neurological Disease in Mucopolysaccharidoses

Scarpa, Maurizio; Harmatz, Paul R.; Meesen, Bianca; Giugliani, Roberto.

J. inborn errors metab. screen ; 6: 170022, 2018. tab, graf

Artigo em Inglês | LILACS-Express | ID: biblio-1090953

17.

Long-Term Galsulfase Treatment Associated With Improved Survival of Patients With Mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome): 15-Year Follow-Up From the Survey Study

Quartel, Adrian; Harmatz, Paul R.; Lampe, Christina; Guffon, Nathalie; Ketteridge, David; Leão-Teles, Elisa; Jones, Simon A.; Giugliani, Roberto.

J. inborn errors metab. screen ; 6: e170025, 2018. tab, graf

Artigo em Inglês | LILACS-Express | ID: biblio-1090972

18.

Impact of Elosulfase Alfa on Pain in Patients with Morquio A Syndrome over 52 Weeks: MOR-008: A Randomized, Double-Blind, Pilot Study

Treadwell, Marsha; Harmatz, Paul R.; Burton, Barbara K.; Mitchell, John J.; Muschol, Nicole; Jones, Simon A.; Pastores, Gregory M.; Lau, Heather A.; Sparkes, Rebecca; Sutton, V. Reid; Meesen, Bianca; Haller, Christine A.; Shaywitz, Adam J.; Gold, Jeffrey I..

J. inborn errors metab. screen ; 5: e170008, 2017. tab, graf

Artigo em Inglês | LILACS-Express | ID: biblio-1090939

19.

Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management.

Braunlin, Elizabeth A; Harmatz, Paul R; Scarpa, Maurizio; Furlanetto, Beatriz; Kampmann, Christoph; Loehr, James P; Ponder, Katherine P; Roberts, William C; Rosenfeld, Howard M; Giugliani, Roberto.

J Inherit Metab Dis ; 34(6): 1183-97, 2011 Dec.

Artigo em Inglês | MEDLINE | ID: mdl-21744090

20.

Expert Opinions on Managing Fertility and Pregnancy in Patients With Mucopolysaccharidosis

Stewart, Fiona; Bentley, Andrew; Burton, Barbara K; Guffon, Nathalie; Hale, Susan L.; Harmatz, Paul R.; Kircher, Susanne G.; Kochhar, Pavan K.; Mitchell, John J.; Plöckinger, Ursula; Semotok, Jennifer; Graham, Sue; Sande, Stephen; Sisic, Zlatko; Johnston, Tracey A..

J. inborn errors metab. screen ; 4: e160029, 2016. tab, graf

Artigo em Inglês | LILACS-Express | ID: biblio-1090890

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