Browsing by Author Martins, Ana Maria [UNIFESP]

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Issue DateTitleAuthor(s)
1-Jan-2011ACE activity is modulated by the enzyme alpha-galactosidase ABatista, Elice Carneiro; Carvalho, Luiz Roberto; Casarini, Dulce Elena [UNIFESP]; Carmona, Adriana Karaoglanovic; Santos, Edson Lucas dos; Silva, Elton Dias da; Santos, Robson Augusto dos; Nakaie, Clovis Ryuichi; Munoz Rojas, Maria Veronica; Oliveira, Suzana Macedo de; Bader, Michael; D'Almeida, Vania [UNIFESP]; Martins, Ana Maria [UNIFESP]; Souza, Kely de Picoly; Pesquero, Joao Bosco [UNIFESP]; Universidade Federal de São Paulo (UNIFESP); Max Delbruck Ctr Mol Med MDC; Genzyme Brasil; Universidade Federal de Minas Gerais (UFMG); Fed Univ Grande Dourados; Hosp Sao Vicente de Paulo
1-Nov-2010Agalsidase beta treatment is associated with improved quality of life in patients with Fabry disease: Findings from the Fabry RegistryWatt, Torquil; Burlina, Alessandro P.; Cazzorla, Chiara; Schoenfeld, Dorothee; Banikazemi, Maryam; Hopkin, Robert J.; Martins, Ana Maria [UNIFESP]; Sims, Katherine; Beitner-Johnson, Dana; O'Brien, Fanny; Feldt-Rasmussen, Ulla; Natl Univ Hosp; San Bassano Hosp; Univ Padua; Univ Wurzburg; Columbia Univ; Cincinnati Childrens Hosp; Universidade Federal de São Paulo (UNIFESP); Massachusetts Gen Hosp; Genzyme Corp
1-Oct-2009The Brazilian Consensus on the Management of Pompe DiseaseLlerena, Juan C.; Horovitz, Dafne Maria; Nagahashi Marie, Suely Kazue; Porta, Gilda; Giugliani, Roberto; Munoz Roja, Maria Veronica; Martins, Ana Maria [UNIFESP]; Brazilian Network Studies Pompe; Fiocruz MS; Universidade de São Paulo (USP); Hosp Clin Porto Alegre; Universidade Federal de São Paulo (UNIFESP)
11-Aug-2009Chitotriosidase determination in plasma and in dried blood spots: A comparison using two different substrates in a microplate assayRodrigues, Mayra D. B. [UNIFESP]; Oliveira, Allan C. de [UNIFESP]; Mueller, Karen B. [UNIFESP]; Martins, Ana Maria [UNIFESP]; D'Almeida, Vania [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)
1-Feb-2014Cholesteryl ester storage disease: report of three casesCuriati, Marco A. [UNIFESP]; Kyosen, Sandra O. [UNIFESP]; Mendes, Carmen Silvia C. [UNIFESP]; Aranda, Carolina S. [UNIFESP]; Jimenez, Debora Adriana P. [UNIFESP]; Barata, Mariangela Cristina C. [UNIFESP]; Patricio, Francy S. [UNIFESP]; Martins, Ana Maria [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)
1-Oct-2011Clinical manifestations and treatment of mucopolysaccharidosis type I patients in Latin America as compared with the rest of the worldMunoz-Rojas, Maria Veronica; Bay, Luisa; Sanchez, Luz; van Kuijck, Marcel; Ospina, Sandra; Francisco Cabello, Juan; Martins, Ana Maria [UNIFESP]; Hosp Nacl Pediat JP Garrahan; Hosp Especialidades UMAE 25; Genzyme Corp; Univ Rosario; Univ Valparaiso; Univ Chile; Universidade Federal de São Paulo (UNIFESP)
1-Dec-2014Cytogenetic biomonitoring in mucopolyssacharosis I, II and IV patients treated with enzyme replacement therapyGuilheiro, Joice Marques [UNIFESP]; Chaves, Marcelo Donizetti [UNIFESP]; Martins, Ana Maria [UNIFESP]; Ribeiro, Daniel Araki [UNIFESP]; D'Almeida, Vania [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)
1-Jan-2013Demographic characterization of Brazilian patients enrolled in the Fabry RegistryMartins, Ana Maria [UNIFESP]; Kyosen, Sandra Obikawa [UNIFESP]; Garrote, J. [UNIFESP]; Marques, Fabricio Machado V.; Guilhem, J. G.; Macedo, Eliane; Sobral Neto, José; Ura, Somei; Universidade Federal de São Paulo (UNIFESP); Hosp Santo Antonio; Inst Hemodialise Sorocaba; Ctr Infusao Doencas Raras; Ctr Avaliacao Cardiol; Universidade de São Paulo (USP)
1-Feb-2012Diagnosis of Mucopolysaccharidosis of a Reference Center Laboratory for Inborn Errors of Metabolism (LEIM) - A Brazilian ExperienceRezende, Marina [UNIFESP]; Mueller, MullerKaren [UNIFESP]; Martins, Ana Maria [UNIFESP]; D'Almeida, Vania [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)
1-Feb-2012Diagnosis of Pompe Disease (PD) Using Dried Blood Spots On Filter Paper (DBS) at the Laboratory of a Brazilian Reference Center for Inborn Errors of Metabolism (LEIM)Kyosen, Sandra [UNIFESP]; Mueller, Karen [UNIFESP]; Martins, Ana Maria [UNIFESP]; D'Almeida, Vania [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)
1-Jan-2009A dose-optimization trial of laronidase (Aldurazyme (R)) in patients with mucopolysaccharidosis IGiugliani, Roberto; Rojas, Veronica Munoz; Martins, Ana Maria [UNIFESP]; Valadares, Eugnia R.; Clarke, Joe T. R.; Goes, Jose E. C.; Kakkis, Emil D.; Worden, Mary Alice; Sidman, Marisa; Cox, Gerald F.; Univ Fed Rio Grande do Sul; Universidade Federal de São Paulo (UNIFESP); Universidade Federal de Minas Gerais (UFMG); Hosp Sick Children; Hosp Infantil Joana de Gusmao; BioMarin Pharmaceut Inc; Genzyme Corp; Harvard Univ
1-Feb-2015Early treatment with laronidase improves clinical outcomes in patients with attenuated MPS I: Analysis of eight sibling pairsPleat, Rebecca; Al-Sannaa, Nouriya; Barbouth, Deborah S.; Benhayoun, Youssef; Goizet, Cyril; Guelbert, Norberto; Jones, Simon A.; Kyosen, Sandra [UNIFESP]; Martins, Ana Maria [UNIFESP]; Phornphutkul, Chanika; Reig, Celia; Holder, Iva Ivanovska; Fallet, Shari; Sanofi Co; Johns Hopkins Aramco Healthcare; Univ Miami; Robert Boulin Hosp; Pellegrin Hosp; Childrens Hosp Cordoba; Univ Manchester; Universidade Federal de São Paulo (UNIFESP); Brown Univ; Gen Hosp Segovia; Univ Bordeaux
1-Feb-2015ENCORE, a randomized, controlled, open-label non-inferiority study comparing eliglustat to imiglucerase in Gaucher disease type 1 patients stabilized on enzyme replacement therapy: 24-month resultsCox, Timothy M.; Drelichman, Guillermo I.; Cravo, Renata; Balwani, Manisha; Burrow, Thomas Andrew; Martins, Ana Maria [UNIFESP]; Lukinag, Elena; Rosenbloom, Barry E.; Ross, Leorah H.; Angell, Jennifer; Peterschmitt, M. Judith; Addenbrookes Hosp; Hosp Ninos Dr Ricardo Gutierrez; HEMORIO; Mt Sinai Hosp; Cincinnati Childrens Hosp Med Ctr; Universidade Federal de São Paulo (UNIFESP); Minist Publ Hlth Russia; Cedars Sinai Tower Hematol Oncol Med Grp; Genzyme
1-Feb-2014ENCORE: A randomized, controlled, open-label non-inferiority study comparing eliglustat to imiglucerase in Gaucher disease type 1 patients on enzyme replacement therapy who have reached therapeutic goalsCox, Timothy M.; Drelichman, Guillermo; Cravo, Renata; Balwani, Manisha; Burrow, Thomas Andrew; Martins, Ana Maria [UNIFESP]; Lukina, Elena; Rosenbloom, Barry; Ross, Leorah; Angell, Jennifer; Puga, Ana Cristina; Univ Cambridge; Hosp Ninos Dr Ricardo Gutierrez; HEMORIO; Mt Sinai Hosp; Cincinnati Childrens Hosp Med Ctr; Universidade Federal de São Paulo (UNIFESP); Minist Publ Hlth Russia; Cedars Sinai Tower Hematol Oncol; Genzyme
1-Feb-2015Enzyme replacement therapy for mucopolysaccharidosis type II: Experience from a Brazilian reference centerCuriati, Marco A. [UNIFESP]; Mendes, Carmen Silvia C. [UNIFESP]; Rand, Maret H. [UNIFESP]; Canossa, Sueli [UNIFESP]; Goncalves, Cintia M. [UNIFESP]; Silva, Rosangela M. [UNIFESP]; Silva, Jose [UNIFESP]; Oliveira, Renata B. [UNIFESP]; Kyosen, Sandra O. [UNIFESP]; Aranda, Carolina S. [UNIFESP]; Martins, Ana Maria [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)
1-May-2013Enzyme replacement therapy with galsulfase in 34 children younger than five years of age with MPS VIHorovitz, Dafne D. G.; Magalhaes, Tatiana S. P. C.; Acosta, Angelina; Ribeiro, Erlane M.; Giuliani, Liane R.; Palhares, Durval B.; Kim, Chong A.; Paula, Ana Carolina de; Kerstenestzy, Marcelo; Pianovski, Mara A. D.; Costa, Maria Ione F.; Santos, Francisca C.; Martins, Ana Maria [UNIFESP]; Aranda, Carolina Sanchez [UNIFESP]; Correa Neto, Jordao; Moreira Holanda, Gervina Brady; Cardoso, Laercio; Silva, Carlos A. B. da; Bonatti, Renata C. F.; Ribeiro, Bethania F. R.; Rodrigues, Maria do Carmo S.; Llerena, Juan C.; Fiocruz MS; Universidade Federal da Bahia (UFBA); Hosp Albert Sabin; Universidade Federal de Mato Grosso do Sul (UFMS); Universidade de São Paulo (USP); Hosp Barao de Lucena; Univ Fed Parana; Ctr Reabilitacao Infantil; Hosp Univ Maranhao; Universidade Federal de São Paulo (UNIFESP); Univ Fed Rio Grande do Norte; Univ Fortaleza; Univ Fed Triangulo Mineiro; Hosp Clin Acre; Univ Fed Espirito Santo
1987Estudo clínico e evolutivo de pacientes com fenilcetonuriaSchmidt, Benjamin José [UNIFESP]; Martins, Ana Maria [UNIFESP]
1985Estudo epidemiológico de detecção de crianças com deficiência física e/ou mental em uma comunidadeSchmidt, Benjamin José [UNIFESP]; Martins, Ana Maria [UNIFESP]
1-Jan-2012Evaluation of oxidative stress markers and cardiovascular risk factors in Fabry Disease patientsMüller, Karen Barbosa [UNIFESP]; Galdieri, Luciano C. [UNIFESP]; Pereira, Vanessa Gonçalves [UNIFESP]; Martins, Ana Maria [UNIFESP]; D'Almeida, Vânia [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)
1-May-2010Evidence of Lysosomal Membrane Permeabilization in Mucopolysaccharidosis Type I: Rupture of Calcium and Proton HomeostasisPereira, Vanessa Goncalves [UNIFESP]; Gazarini, Marcos L. [UNIFESP]; Rodrigues, Lara Cheliz [UNIFESP]; Da Silva, Flavia Helena [UNIFESP]; Han, Sang Won [UNIFESP]; Martins, Ana Maria [UNIFESP]; Tersariol, Ivarne L. S. [UNIFESP]; D'Almeida, Vania [UNIFESP]; Universidade Federal de São Paulo (UNIFESP); Univ Fed Rio Grande do Sul