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1.

Congenital Disorders of Glycosylation in Portugal-Two Decades of Experience.

Quelhas, Dulce; Martins, Esmeralda; Azevedo, Luísa; Bandeira, Anabela; Diogo, Luísa; Garcia, Paula; Sequeira, Sílvia; Ferreira, Ana Cristina; Teles, Elisa Leão; Rodrigues, Esmeralda; Fortuna, Ana Maria; Mendonça, Carla; Fernandes, Helena Cabral; Medeira, Ana; Gaspar, Ana; Janeiro, Patrícia; Oliveira, Anabela; Laranjeira, Francisco; Ribeiro, Isaura; Souche, Erica; Race, Valérie; Keldermans, Liesbeth; Matthijs, Gert; Jaeken, Jaak.

J Pediatr ; 231: 148-156, 2021 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-33340551

2.

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

3.

Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders-A successful strategy for clinical research of rare diseases.

Posset, Roland; Garbade, Sven F; Boy, Nikolas; Burlina, Alberto B; Dionisi-Vici, Carlo; Dobbelaere, Dries; Garcia-Cazorla, Angeles; de Lonlay, Pascale; Teles, Elisa Leão; Vara, Roshni; Mew, Nicholas Ah; Batshaw, Mark L; Baumgartner, Matthias R; McCandless, Shawn E; Seminara, Jennifer; Summar, Marshall; Hoffmann, Georg F; Kölker, Stefan; Burgard, Peter.

J Inherit Metab Dis ; 42(1): 93-106, 2019 01.

Artigo em Inglês | MEDLINE | ID: mdl-30740724

4.

Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders.

Posset, Roland; Garcia-Cazorla, Angeles; Valayannopoulos, Vassili; Teles, Elisa Leão; Dionisi-Vici, Carlo; Brassier, Anaïs; Burlina, Alberto B; Burgard, Peter; Cortès-Saladelafont, Elisenda; Dobbelaere, Dries; Couce, Maria L; Sykut-Cegielska, Jolanta; Häberle, Johannes; Lund, Allan M; Chakrapani, Anupam; Schiff, Manuel; Walter, John H; Zeman, Jiri; Vara, Roshni; Kölker, Stefan.

J Inherit Metab Dis ; 39(5): 661-672, 2016 09.

Artigo em Inglês | MEDLINE | ID: mdl-27106216

5.

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation.

Kölker, Stefan; Garcia-Cazorla, Angeles; Cazorla, Angeles Garcia; Valayannopoulos, Vassili; Lund, Allan M; Burlina, Alberto B; Sykut-Cegielska, Jolanta; Wijburg, Frits A; Teles, Elisa Leão; Zeman, Jiri; Dionisi-Vici, Carlo; Baric, Ivo; Karall, Daniela; Augoustides-Savvopoulou, Persephone; Aksglaede, Lise; Arnoux, Jean-Baptiste; Avram, Paula; Baumgartner, Matthias R; Blasco-Alonso, Javier; Chabrol, Brigitte; Chakrapani, Anupam; Chapman, Kimberly; I Saladelafont, Elisenda Cortès; Couce, Maria L; de Meirleir, Linda; Dobbelaere, Dries; Dvorakova, Veronika; Furlan, Francesca; Gleich, Florian; Gradowska, Wanda; Grünewald, Stephanie; Jalan, Anil; Häberle, Johannes; Haege, Gisela; Lachmann, Robin; Laemmle, Alexander; Langereis, Eveline; de Lonlay, Pascale; Martinelli, Diego; Matsumoto, Shirou; Mühlhausen, Chris; de Baulny, Hélène Ogier; Ortez, Carlos; Peña-Quintana, Luis; Ramadza, Danijela Petkovic; Rodrigues, Esmeralda; Scholl-Bürgi, Sabine; Sokal, Etienne; Staufner, Christian; Summar, Marshall L.

J Inherit Metab Dis ; 38(6): 1041-57, 2015 Nov.

Artigo em Inglês | MEDLINE | ID: mdl-25875215

6.

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.

Kölker, Stefan; Valayannopoulos, Vassili; Burlina, Alberto B; Sykut-Cegielska, Jolanta; Wijburg, Frits A; Teles, Elisa Leão; Zeman, Jiri; Dionisi-Vici, Carlo; Baric, Ivo; Karall, Daniela; Arnoux, Jean-Baptiste; Avram, Paula; Baumgartner, Matthias R; Blasco-Alonso, Javier; Boy, S P Nikolas; Rasmussen, Marlene Bøgehus; Burgard, Peter; Chabrol, Brigitte; Chakrapani, Anupam; Chapman, Kimberly; Cortès I Saladelafont, Elisenda; Couce, Maria L; de Meirleir, Linda; Dobbelaere, Dries; Furlan, Francesca; Gleich, Florian; González, Maria Julieta; Gradowska, Wanda; Grünewald, Stephanie; Honzik, Tomas; Hörster, Friederike; Ioannou, Hariklea; Jalan, Anil; Häberle, Johannes; Haege, Gisela; Langereis, Eveline; de Lonlay, Pascale; Martinelli, Diego; Matsumoto, Shirou; Mühlhausen, Chris; Murphy, Elaine; de Baulny, Hélène Ogier; Ortez, Carlos; Pedrón, Consuelo C; Pintos-Morell, Guillem; Pena-Quintana, Luis; Ramadza, Danijela Petkovic; Rodrigues, Esmeralda; Scholl-Bürgi, Sabine; Sokal, Etienne.

J Inherit Metab Dis ; 38(6): 1059-74, 2015 Nov.

Artigo em Inglês | MEDLINE | ID: mdl-25875216

7.

A frequent splicing mutation and novel missense mutations color the updated mutational spectrum of classic galactosemia in Portugal.

Coelho, Ana I; Ramos, Ruben; Gaspar, Ana; Costa, Cláudia; Oliveira, Anabela; Diogo, Luísa; Garcia, Paula; Paiva, Sandra; Martins, Esmeralda; Teles, Elisa Leão; Rodrigues, Esmeralda; Cardoso, M Teresa; Ferreira, Elena; Sequeira, Sílvia; Leite, Margarida; Silva, Maria João; de Almeida, Isabel Tavares; Vicente, João B; Rivera, Isabel.

J Inherit Metab Dis ; 37(1): 43-52, 2014 Jan.

Artigo em Inglês | MEDLINE | ID: mdl-23749220

8.

Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: the clinical relevance of an early diagnosis and report of four new cases.

Martins, Esmeralda; Cardoso, M Luis; Rodrigues, Esmeralda; Barbot, Clara; Ramos, Altina; Bennett, Michael J; Teles, Elisa Leão; Vilarinho, Laura.

J Inherit Metab Dis ; 34(3): 835-42, 2011 Jun.

Artigo em Inglês | MEDLINE | ID: mdl-21347589

9.

Incidence of maple syrup urine disease in Portugal.

Quental, Sofia; Vilarinho, Laura; Martins, Esmeralda; Teles, Elisa Leão; Rodrigues, Esmeralda; Diogo, Luísa; Garcia, Paula; Eusébio, Filomena; Gaspar, Ana; Sequeira, Sílvia; Amorim, António; Prata, Maria João.

Mol Genet Metab ; 100(4): 385-7, 2010 Aug.

Artigo em Inglês | MEDLINE | ID: mdl-20466570

10.

Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase.

Harmatz, Paul; Yu, Zi-Fan; Giugliani, Roberto; Schwartz, Ida Vanessa D; Guffon, Nathalie; Teles, Elisa Leão; Miranda, M Clara Sá; Wraith, J Edmond; Beck, Michael; Arash, Laila; Scarpa, Maurizio; Ketteridge, David; Hopwood, John J; Plecko, Barbara; Steiner, Robert; Whitley, Chester B; Kaplan, Paige; Swiedler, Stuart J; Hardy, Karen; Berger, Kenneth I; Decker, Celeste.

J Inherit Metab Dis ; 33(1): 51-60, 2010 Feb.

Artigo em Inglês | MEDLINE | ID: mdl-20140523

11.

Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation.

Kölker, Stefan; Cazorla, Angeles Garcia; Valayannopoulos, Vassili; Lund, Allan M; Burlina, Alberto B; Sykut-Cegielska, Jolanta; Wijburg, Frits A; Teles, Elisa Leão; Zeman, Jiri; Dionisi-Vici, Carlo; Baric, Ivo; Karall, Daniela; Augoustides-Savvopoulou, Persephone; Aksglaede, Lise; Arnoux, Jean-Baptiste; Avram, Paula; Baumgartner, Matthias R; Blasco-Alonso, Javier; Chabrol, Brigitte; Chakrapani, Anupam; Chapman, Kimberly; I Saladelafont, Elisenda Cortès; Couce, Maria L; de Meirleir, Linda; Dobbelaere, Dries; Dvorakova, Veronika; Furlan, Francesca; Gleich, Florian; Gradowska, Wanda; Grünewald, Stephanie; Jalan, Anil; Häberle, Johannes; Haege, Gisela; Lachmann, Robin; Laemmle, Alexander; Langereis, Eveline; de Lonlay, Pascale; Martinelli, Diego; Matsumoto, Shirou; Mühlhausen, Chris; de Baulny, Hélène Ogier; Ortez, Carlos; Peña-Quintana, Luis; Ramadza, Danijela Petkovic; Rodrigues, Esmeralda; Scholl-Bürgi, Sabine; Sokal, Etienne; Staufner, Christian; Summar, Marshall L; Thompson, Nicholas.

J Inherit Metab Dis ; 38(6): 1155-6, 2015 Nov.

Artigo em Inglês | MEDLINE | ID: mdl-26077420

12.

Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.

Kölker, Stefan; Valayannopoulos, Vassili; Burlina, Alberto B; Sykut-Cegielska, Jolanta; Wijburg, Frits A; Teles, Elisa Leão; Zeman, Jiri; Dionisi-Vici, Carlo; Baric, Ivo; Karall, Daniela; Arnoux, Jean-Baptiste; Avram, Paula; Baumgartner, Matthias R; Blasco-Alonso, Javier; Boy, S P Nikolas; Rasmussen, Marlene Bøgehus; Burgard, Peter; Chabrol, Brigitte; Chakrapani, Anupam; Chapman, Kimberly; Cortès I Saladelafont, Elisenda; Couce, Maria L; de Meirleir, Linda; Dobbelaere, Dries; Furlan, Francesca; Gleich, Florian; González, Maria Julieta; Gradowska, Wanda; Grünewald, Stephanie; Honzik, Tomas; Hörster, Friederike; Ioannou, Hariklea; Jalan, Anil; Häberle, Johannes; Haege, Gisela; Langereis, Eveline; de Lonlay, Pascale; Martinelli, Diego; Matsumoto, Shirou; Mühlhausen, Chris; Murphy, Elaine; de Baulny, Hélène Ogier; Ortez, Carlos; Pedrón, Consuelo C; Pintos-Morell, Guillem; Pena-Quintana, Luis; Ramadza, Danijela Petkovic; Rodrigues, Esmeralda; Scholl-Bürgi, Sabine; Sokal, Etienne.

J Inherit Metab Dis ; 38(6): 1157-8, 2015 Nov.

Artigo em Inglês | MEDLINE | ID: mdl-26077421

13.

Molecular and structural analyses of maple syrup urine disease and identification of a founder mutation in a Portuguese Gypsy community.

Quental, Sofia; Macedo-Ribeiro, Sandra; Matos, Raquel; Vilarinho, Laura; Martins, Esmeralda; Teles, Elisa Leão; Rodrigues, Esmeralda; Diogo, Luísa; Garcia, Paula; Eusébio, Filomena; Gaspar, Ana; Sequeira, Sílvia; Furtado, Fátima; Lança, Isabel; Amorim, António; Prata, Maria João.

Mol Genet Metab ; 94(2): 148-56, 2008 Jun.

Artigo em Inglês | MEDLINE | ID: mdl-18378174

14.

Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: Final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfatase.

Harmatz, Paul; Giugliani, Roberto; Schwartz, Ida Vanessa D; Guffon, Nathalie; Teles, Elisa Leão; Miranda, M Clara Sá; Wraith, J Edmond; Beck, Michael; Arash, Laila; Scarpa, Maurizio; Ketteridge, David; Hopwood, John J; Plecko, Barbara; Steiner, Robert; Whitley, Chester B; Kaplan, Paige; Yu, Zi-Fan; Swiedler, Stuart J; Decker, Celeste.

Mol Genet Metab ; 94(4): 469-75, 2008 Aug.

Artigo em Inglês | MEDLINE | ID: mdl-18502162

15.

Mitochondrial Encephalopathy: First Portuguese Report of a VARS2 Causative Variant.

Pereira, Sandra; Adrião, Mariana; Sampaio, Mafalda; Basto, Margarida Ayres; Rodrigues, Esmeralda; Vilarinho, Laura; Teles, Elisa Leão; Alonso, Isabel; Leão, Miguel.

JIMD Rep ; 42: 113-119, 2018.

Artigo em Inglês | MEDLINE | ID: mdl-29478218

16.

Trimethylaminuria (fish odor syndrome): genotype characterization among Portuguese patients.

Ferreira, Filipa; Esteves, Sofia; Almeida, Lígia S; Gaspar, Ana; da Costa, Cláudia Dias; Janeiro, Patrícia; Bandeira, Anabela; Martins, Esmeralda; Teles, Elisa Leão; Garcia, Paula; Azevedo, Luísa; Vilarinho, Laura.

Gene ; 527(1): 366-70, 2013 Sep 15.

Artigo em Inglês | MEDLINE | ID: mdl-23791655

17.

Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease.

Scarpa, Maurizio; Almássy, Zsuzsanna; Beck, Michael; Bodamer, Olaf; Bruce, Iain A; De Meirleir, Linda; Guffon, Nathalie; Guillén-Navarro, Encarna; Hensman, Pauline; Jones, Simon; Kamin, Wolfgang; Kampmann, Christoph; Lampe, Christina; Lavery, Christine A; Teles, Elisa Leão; Link, Bianca; Lund, Allan M; Malm, Gunilla; Pitz, Susanne; Rothera, Michael; Stewart, Catherine; Tylki-Szymanska, Anna; van der Ploeg, Ans; Walker, Robert; Zeman, Jiri; Wraith, James E.

Orphanet J Rare Dis ; 6: 72, 2011 Nov 07.

Artigo em Inglês | MEDLINE | ID: mdl-22059643

18.

Radiologic and neuroradiologic findings in the mucopolysaccharidoses.

Lachman, Ralph; Martin, Kenneth W; Castro, Sérgio; Basto, Margarida Ayres; Adams, Alexandra; Teles, Elisa Leão.

J Pediatr Rehabil Med ; 3(2): 109-18, 2010.

Artigo em Inglês | MEDLINE | ID: mdl-21791838

19.

Enzyme replacement therapy for mucopolysaccharidosis VI: Growth and pubertal development in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase.

Decker, Celeste; Yu, Zi-Fan; Giugliani, Roberto; Schwartz, Ida Vanessa D; Guffon, Nathalie; Teles, Elisa Leão; Miranda, M Clara Sá; Wraith, J Edmond; Beck, Michael; Arash, Laila; Scarpa, Maurizio; Ketteridge, David; Hopwood, John J; Plecko, Barbara; Steiner, Robert; Whitley, Chester B; Kaplan, Paige; Swiedler, Stuart J; Conrad, Susan; Harmatz, Paul.

J Pediatr Rehabil Med ; 3(2): 89-100, 2010.

Artigo em Inglês | MEDLINE | ID: mdl-20634905

20.

Enzyme replacement therapy for mucopolysaccharidosis VI: a phase 3, randomized, double-blind, placebo-controlled, multinational study of recombinant human N-acetylgalactosamine 4-sulfatase (recombinant human arylsulfatase B or rhASB) and follow-on, open-label extension study.

Harmatz, Paul; Giugliani, Roberto; Schwartz, Ida; Guffon, Nathalie; Teles, Elisa Leão; Miranda, M Clara Sá; Wraith, J Edmond; Beck, Michael; Arash, Laila; Scarpa, Maurizio; Yu, Zi-Fan; Wittes, Janet; Berger, Kenneth I; Newman, Mary S; Lowe, Ann M; Kakkis, Emil; Swiedler, Stuart J.

J Pediatr ; 148(4): 533-539, 2006 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-16647419

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