Early treatment with laronidase improves clinical outcomes in patients with attenuated MPS I: a retrospective case series analysis of nine sibships
Al-Sannaa, Nouriya A, Bay, Luisa, Barbouth, Deborah S, Benhayoun, Youssef, Goizet, Cyril, Guelbert, Norberto, Jones, Simon A, Kyosen, Sandra Obikawa, Martins, Ana Maria, Phornphutkul, Chanika, Reig, Celia, Pleat, Rebecca, Fallet, Shari, Ivanovska Holder, Iva
Published in Orphanet journal of rare diseases (07.10.2015)
Published in Orphanet journal of rare diseases (07.10.2015)
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Journal Article
Short stature as a presenting symptom of attenuated Mucopolysaccharidosis type I: case report and clinical insights
Martins, Ana Maria, Lindstrom, Kristin, Kyosen, Sandra Obikawa, Munoz-Rojas, Maria Veronica, Thibault, Nathan, Polgreen, Lynda E
Published in BMC endocrine disorders (12.11.2018)
Published in BMC endocrine disorders (12.11.2018)
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Journal Article
Oxidative stress assessment by glutathione peroxidase activity and glutathione levels in response to selenium supplementation in patients with Mucopolysaccharidosis I, II and VI
Oliveira-Silva, José Araújo de, Yamamoto, Joyce Umbelino Pinto, Oliveira, Renata Bernardes de, Monteiro, Vaneisse Cristina Lima, Frangipani, Beatriz Jurkiewcz, Kyosen, Sandra Obikawa, Martins, Ana Maria, D'Almeida, Vânia
Published in Genetics and molecular biology (01.01.2019)
Published in Genetics and molecular biology (01.01.2019)
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Journal Article
A New Mutation in IDS Gene Causing Hunter Syndrome: A Case Report
Gomes, Caio Perez, Marins, Maryana Mara, Motta, Fabiana Louise, Kyosen, Sandra Obikawa, Curiati, Marco Antonio, D'Almeida, Vânia, Martins, Ana Maria, Pesquero, João Bosco
Published in Frontiers in genetics (18.03.2020)
Published in Frontiers in genetics (18.03.2020)
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Journal Article
Alternative laronidase dose regimen for patients with mucopolysaccharidosis I: a multinational, retrospective, chart review case series
Horovitz, Dafne Dain Gandelman, Acosta, Angelina X, Giugliani, Roberto, Hlavatá, Anna, Hlavatá, Katarína, Tchan, Michel C, Lopes Barth, Anneliese, Cardoso, Jr, Laercio, Embiruçu de Araújo Leão, Emília Katiane, Esposito, Ana Carolina, Kyosen, Sandra Obikawa, De Souza, Carolina Fischinger Moura, Martins, Ana Maria
Published in Orphanet journal of rare diseases (29.04.2016)
Published in Orphanet journal of rare diseases (29.04.2016)
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Journal Article
CASE SERIES OF PATIENTS UNDER BIWEEKLY TREATMENT WITH LARONIDASE: A REPORT OF A SINGLE CENTER EXPERIENCE
Kyosen, Sandra Obikawa, Toma, Leny, Nader, Helena Bonciani, Braga, Marion Coting, Pereira, Vanessa Gonçalves, Canossa, Sueli, Pesquero, João Bosco, D'Almeida, Vânia, Martins, Ana Maria
Published in Revista Paulista de Pediatria (01.01.2019)
Published in Revista Paulista de Pediatria (01.01.2019)
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Journal Article
Guidelines to Diagnosis and Monitoring of Fabry Disease and Review of Treatment Experiences
Martins, Ana Maria, MD, PhD, D'Almeida, Vânia, MD, Kyosen, Sandra Obikawa, MD, Takata, Edna Tiemi, MD, Delgado, Alvimar Gonçalves, MD, PhD, Barbosa Ferreira Gonçalves, Ângela Maria, MD, Benetti Filho, Caio César, MD, Filho, Dino Martini, MD, Biagini, Gilson, MD, Pimentel, Helena, MD, Abensur, Hugo, MD, PhD, Guimarães, Humberto Cenci, MD, Gomes, Jaelson Guilhem, MD, Neto, José Sobral, MD, PhD, Dias D'Almeida, Luiz Octávio, PhD, Carvalho, Luiz Roberto, MD, Harouche, Maria Beatriz, MD, Jacometti Maldonado, Maria Cristina, MD, Nascimento, Osvaldo J.M., PhD, dos Santos Montoril, Paulo Sergio, MD, Bastos, Ricardo Villela, MD
Published in The Journal of pediatrics (01.10.2009)
Published in The Journal of pediatrics (01.10.2009)
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Journal Article
Endoscopic Findings in Lysosomal Acid Lipase Deficiency
Kyosen, Sandra Obikawa, Geocze, Stephan, Yamamoto, Marcelo Hideki, Martins, Ana Maria
Published in Journal of pediatric gastroenterology and nutrition (01.06.2019)
Published in Journal of pediatric gastroenterology and nutrition (01.06.2019)
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Journal Article
Endoscopic Findings in Lysosomal Acid Lipase Deficiency
Kyosen, Sandra Obikawa, Geocze, Stephan, Yamamoto, Marcelo Hideki, Martins, Ana Maria
Published in Journal of pediatric gastroenterology and nutrition (01.05.2018)
Published in Journal of pediatric gastroenterology and nutrition (01.05.2018)
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Journal Article
Teaching and training of human resources for genetics and genomics in Brazil
de Lima, Fernanda Teresa, de Lima, Maria Angélica de Faria Domingues, Correia, Patrícia Santana, Honjo, Rachel Sayuri, Maia, Rayana Elias, Kyosen, Sandra Obikawa, Melo, Débora Gusmão
Published in Journal of community genetics (13.08.2024)
Published in Journal of community genetics (13.08.2024)
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Journal Article
Novel GAA mutations in patients with Pompe disease
Turaça, Lauro Thiago, de Faria, Douglas Oliveira Soares, Kyosen, Sandra Obikawa, Teixeira, Valber Dias, Motta, Fabiana Louise, Pessoa, Juliana Gilbert, Rodrigues e Silva, Marina, de Almeida, Sandro Soares, D'Almeida, Vânia, Munoz Rojas, Maria Verônica, Martins, Ana Maria, Pesquero, João Bosco
Published in Gene (25.04.2015)
Published in Gene (25.04.2015)
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Journal Article
The impact of the disease burden on the quality of life of patients with lysosomal diseases: preliminary data of adult patients under enzyme replacement therapy
Curiati, Marco Antonio, Kyosen, Sandra Obikawa, Coelho, Erika Mitie Yamashiro, Chen, Kelin, Sakata, Edna Tiemi, Silva, Rosangela Maria, Martins, Ana Maria
Published in Molecular genetics and metabolism (01.01.2017)
Published in Molecular genetics and metabolism (01.01.2017)
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Journal Article
Prognostic factors for the late onset Pompe disease with enzyme replacement therapy: From our experience of 4 cases including an autopsy case
Kobayashi, Hiroshi, Shimada, Yohta, Ikegami, Masahiro, Kawai, Toshinao, Sakurai, Ken, Urashima, Takashi, Ijima, Masatoshi, Fujiwara, Masako, Kaneshiro, Eiko, Ohashi, Toya, Eto, Yoshikatsu, Ishigaki, Keiko, Osawa, Makiko, Kyosen, Sandra Obikawa, Ida, Hiroyuki
Published in Molecular genetics and metabolism (01.05.2010)
Published in Molecular genetics and metabolism (01.05.2010)
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Journal Article
Alternative laronidase dose regimen for patients with mucopolysaccharidosis i
Martins, Ana M., Acosta, Angelina X., Giugliani, Roberto, Hlavatá, Anna, Hlavatá, Katarina, Tchan, Michel C., Barth, Anneliese Lopes, Cardoso, Laercio, de Araújo Leão, Emilia Katiane Embiruçu, Esposito, Ana Carolina, Kyosen, Sandra Obikawa, De Souza, Carolina Fischinger Moura, Horovitz, Dafne Dain Gandelman
Published in Molecular genetics and metabolism (01.02.2016)
Published in Molecular genetics and metabolism (01.02.2016)
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Journal Article
Fabry disease: 19 novel alterations in the alpha-galactosidase A gene in Brazilian families
Turaça, Lauro, Pessoa, Juliana Gilbert, Motta, Fabiana Louise, Kyosen, Sandra Obikawa, Rojas, Maria Verônica Munhõz, Muller, Karen Barbosa, Lourenço, Charles Marques, Marques, Wilson Junior, D'Almeida, Vânia, Martins, Ana Maria, Pesquero, João Bosco
Published in Molecular genetics and metabolism (01.02.2013)
Published in Molecular genetics and metabolism (01.02.2013)
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Journal Article
Guidelines to Diagnosis and Monitoring of Fabry Disease and Review of Treatment Experiences: Brazilian Guidelines to Diagnosis, Treatment, and Monitoring for Gaucher Disease, Fabry Disease, Mucopolissacharidosis Type I, and Pompe Disease
MARTINS, Ana Maria, D'ALMEIDA, Vânia, ABENSUR, Hugo, CENCI GUIMARAES, Humberto, GUILHEM GOMES, Jaelson, SOBRAL, José, DIAS D'ALMEIDA, Luiz Octàvio, ROBERTO CARVALHO, Luiz, BEATRIZ HAROUCHE, Maria, JACOMETTI MALDONADO, Maria Cristina, NASCIMENTO, Osvaldo J. M, DOS SANTOS MONTORIL, Paulo Sergio, OBIKAWA KYOSEN, Sandra, VILLELA BASTOS, Ricardo, TIEMI TAKATA, Edna, GONCALVES DELGADO, Alvimar, BARBOSA FERREIRA GONCALVES, Angela Maria, CESAR BENETTI, Caio, MARTINI, Dino, BIAGINI, Gilson, PIMENTEL, Helena
Published in The Journal of pediatrics (2009)
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Published in The Journal of pediatrics (2009)
Journal Article
A New Mutation in IDS Gene Causing Hunter Syndrome: A Case Report
Gomes, Caio Perez, Marins, Maryana Mara, Motta, Fabiana Louise, Kyosen, Sandra Obikawa, Curiati, Marco Antonio, D'Almeida, Vânia, Martins, Ana Maria, Pesquero, João Bosco
Published in Frontiers in genetics (01.01.2019)
Published in Frontiers in genetics (01.01.2019)
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