Search Results - "Flores Pires, Ricardo"

Recommendations on Diagnosis, Treatment, and Monitoring for Gaucher Disease by Martins, Ana Maria, MD, PhD, Valadares, Eugenia Ribeiro, MD, PhD, Porta, Gilda, MD, PhD, Coelho, Janice, PhD, Filho, José Semionato, MD, Dudeque Pianovski, Mara Albonei, PhD, Kerstenetzky, Marcelo Soares, MD, de Fátima Pombo Montoril, Maria, MD, Aranda, Paulo Cesar, MD, Pires, Ricardo Flores, MD, Mota, Ronald Moura Vale, MD, Bortolheiro, Teresa Cristina, MD

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Guidelines for the Management of Mucopolysaccharidosis Type I by Martins, Ana Maria, MD, PhD, Dualibi, Ana Paula, MD, PhD, Norato, Denise, MD, PhD, Takata, Edna Tiemi, MD, Santos, Emerson S., MD, Valadares, Eugênia Ribeiro, MD, PhD, Porta, Gilda, MD, PhD, de Luca, Gisele, MD, Moreira, Gustavo, MD, PhD, Pimentel, Helena, MD, Coelho, Janice, PhD, Brum, Jaime Moritz, MD, PhD, Filho, José Semionato, MD, Kerstenetzky, Marcelo Soares, MD, Guimarães, Márcia R., MD, Muñoz Rojas, Maria Verónica, MD, Aranda, Paulo Cesar, MD, Pires, Ricardo Flores, MD, Faria, Rodrigo G.C., MD, Mota, Ronald Moura Vale, MD, Matte, Ursula, PhD, Guedes, Zelita Caldeira Ferreira, PhD

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GLA Gene Mutation in Hypertrophic Cardiomyopathy with a New Variant Description: Is it Fabry's Disease? by Chaves-Markman, Ândrea Virgínia, Markman, Manuel, Calado, Eveline Barros, Pires, Ricardo Flores, Santos-Veloso, Marcelo Antônio Oliveira, Pereira, Catarina Maria Fonseca, Lordsleem, Andréa Bezerra de Melo da Silveira, Lima, Sandro Gonçalves de, Markman Filho, Brivaldo, Oliveira, Dinaldo Cavalcanti de

“…Fabry disease (FD) is an X-linked lysosomal storage disorder caused by mutations in the alpha galactosidase A gene (GLA) that lead to the enzymatic deficiency…”
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Selective screening for organic acidemias by urine organic acid GC–MS analysis in Brazil: Fifteen-year experience by Wajner, Moacir, Coelho, Daniella de Moura, Ingrassia, Rafaela, Oliveira, Anderson Büker de, Busanello, Estela Natacha Brandt, Raymond, Kimiyo, Flores Pires, Ricardo, Souza, Carolina Fischinger Moura de, Giugliani, Roberto, Vargas, Carmen Regla

“…The gas chromatography/mass spectrometry (GC/MS) method for organic acid analysis was established in developed countries since 1980s, but due to the small…”
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Quantification of glucosylceramide in plasma of Gaucher disease patients by Muller, Maria Viviane Gomes, Petry, André, Vianna, Luciene Pinheiro, Breier, Ana Carolina, Michelin-Tirelli, Kristiane, Pires, Ricardo Flores, Trindade, Vera Maria Treis, Coelho, Janice Carneiro

“…Gaucher disease is a sphingolipidosis that leads to an accumulation of glucosylceramide. The objective of this study was to develop a methodology, based on the…”
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Biochemical properties of β-glucosidase in leukocytes from patients and obligated heterozygotes for Gaucher disease carriers by Michelin, Kristiane, Wajner, Alessandro, Bock, Hugo, Fachel, Ângela, Rosenberg, Roberto, Flores Pires, Ricardo, Saraiva Pereira, Maria Luiza, Giugliani, Roberto, Coelho, Janice Carneiro

“…Gaucher's disease (GD) is a disorder caused by the deficiency of lysosomal β-glucosidase, an enzyme that participates in the degradation of glycosphingolipids…”
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Reduced locomotor activity of rats made histidinemic by injection of histidine by Dutra-Filho, C S, Wannmacher, C M, Pires, R F, Gus, G, Kalil, A M, Wajner, M

“…Acute histidinemia was provoked in 30-d-old male Wistar rats by injecting intraperitoneally either histidine alone (0.5 mg/g body wt) or histidine (0.25 mg/g…”
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Recommendations on Diagnosis, Treatment, and Monitoring for Gaucher Disease: Brazilian Guidelines to Diagnosis, Treatment, and Monitoring for Gaucher Disease, Fabry Disease, Mucopolissacharidosis Type I, and Pompe Disease by MARTINS, Ana Maria, VALADARES, Eugenia Ribeiro, VALE MOTA, Ronald Moura, BORTOLHEIRO, Teresa Cristina, PORTA, Gilda, COELHO, Janice, SEMIONATO, José, DUDEQUE PIANOVSKI, Mara Albonei, SOARES KERSTENETZKY, Marcelo, DE FATIMA POMBO MONTORIL, Maria, CESAR ARANDA, Paulo, FLORES PIRES, Ricardo

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Guidelines for the Management of Mucopolysaccharidosis Type I: Brazilian Guidelines to Diagnosis, Treatment, and Monitoring for Gaucher Disease, Fabry Disease, Mucopolissacharidosis Type I, and Pompe Disease by MARTINS, Ana Maria, DUALIBI, Ana Paula, COELHO, Janice, MORITZ BRUM, Jaime, SEMIONATO, José, SOARES KERSTENETZKY, Marcelo, GUIMARAES, Márcia R, MUNOZ ROJAS, Maria Verônica, CESAR ARANDA, Paulo, FLORES PIRES, Ricardo, FARIA, Rodrigo G. C, VALE MOTA, Ronald Moura, NORATO, Denise, MATTE, Ursula, FERREIRA GUEDES, Zelita Caldeira, TIEMI TAKATA, Edna, SANTOS, Emerson S, VALADARES, Eugênia Ribeiro, PORTA, Gilda, DE LUCA, Gisele, MOREIRA, Gustavo, PIMENTEL, Helena

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Aspartame loading test in PKU heterozygous individuals bearing severe and moderate mutations by Santana da Silva, Luiz Carlos, Carvalho, Tiago Santos, Da Silva, Fernanda B., Flores Pires, Ricardo, Giugliani, Roberto, Saraiva Pereira, Maria Luiza

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Diminished concentrations of ganglioside N-acetylneuraminic acid (G-NeuAc) in cerebellum of young rats receiving chronic administration of methylmalonic acid by Wajner, M, Brites, E C, Dutra, J C, Buchalter, M S, Pons, A H, Pires, R F, Wannmacher, L E, Rosa Júnior, A, Trindade, V M, Wannmacher, C M

“…Sustained levels of methylmalonate comparable to those of human methylmalonic acidemia were achieved in the blood of young rats from the 5th till the 25th day…”
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