Showing 1 - 5 results of 5 for search 'Charles M Lourenço', query time: 0.02s
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Corrigendum to “Evaluation of 3-O-methyldopa as a biomarker for aromatic L-amino acid decarboxylase deficiency in 7 Brazilian cases” [27/100744/2021/ pages: 1-4] by Francyne Kubaski, Zackary M. Herbst, Danilo A.A. Pereira, Camilo Silva, Christine Chen, Paul W.L. Hwu, Helio van der Linden, Charles M. Lourenço, Roberto Giugliani
Published 2022-12-01
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Leigh Syndrome Spectrum: A Portuguese Population Cohort in an Evolutionary Genetic Era by Manuela Schubert Baldo, Célia Nogueira, Cristina Pereira, Patrícia Janeiro, Sara Ferreira, Charles M. Lourenço, Anabela Bandeira, Esmeralda Martins, Marina Magalhães, Esmeralda Rodrigues, Helena Santos, Ana Cristina Ferreira, Laura Vilarinho
Published 2023-07-01
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3
Corrigendum to “ Biochemical diagnosis of aromatic-L-amino acid decarboxylase deficiency (AADCD) by assay of AADC activity in plasma using liquid chromatography/tandem mass spectro... by Gabriel Civallero, Francyne Kubaski, Danilo Pereira, Gabriel Rübensam, Zackary M. Herbst, Camilo Silva, Franciele B. Trapp, Edina Poletto, Larissa Faqueti, Gabrielle Iop, Juliano Soares, Vanessa van der Linden, Helio van der Linden, Charles M. Lourenço, Roberto Giugliani
Published 2023-03-01
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Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients. by Taciane Borsatto, Fernanda Sperb-Ludwig, Samyra E Lima, Maria R S Carvalho, Pablo A S Fonseca, José S Camelo, Erlane M Ribeiro, Paula F V de Medeiros, Charles M Lourenço, Carolina F M de Souza, Raquel Boy, Têmis M Félix, Camila M Bittar, Louise L C Pinto, Eurico C Neto, Henk J Blom, Ida V D Schwartz
Published 2017-01-01
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Quantification of lysosphingomyelin and lysosphingomyelin-509 for the screening of acid sphingomyelinase deficiency by Francyne Kubaski, Alberto Burlina, Danilo Pereira, Camilo Silva, Zackary M. Herbst, Franciele B. Trapp, Kristiane Michelin-Tirelli, Franciele F. Lopes, Maira G. Burin, Ana Carolina Brusius-Facchin, Alice B. O. Netto, Edina Poletto, Tamires M. Bernardes, Gerson S. Carvalho, Ney B. Sorte, Fernanda N. Ferreira, Nilza Perin, Marta R. Clivati, Marnie T. S. de Santana, Sandra F. G. Lobos, Emilia K. E. A. Leão, Marcelo P. Coutinho, Paola V. Pinos, Maria L. S. F. Santos, Debora A. Penatti, Charles M. Lourenço, Giulia Polo, Roberto Giugliani
Published 2022-11-01
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