Newborn screening for lysosomal disorders in Brazil: A pilot study using customized fluorimetric assays von Bender, Fernanda, Burin, Maira G., Tirelli, Kristiane M., Medeiros, Fernanda, Bitencourt, Fernanda Hendges de, Civallero, Gabriel, Kubaski, Francyne, Bravo, Heydy, Daher, Antoine, Carnier, Vanessa, Franco, José F. S., Giugliani, Roberto

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Biochemical diagnosis of aromatic-L-amino acid decarboxylase deficiency (AADCD) by assay of AADC activity in plasma using liquid chromatography/tandem mass spectrometry von Civallero, Gabriel, Kubaski, Francyne, Pereira, Danilo, Rübensam, Gabriel, Herbst, Zackary M., Silva, Camilo, Trapp, Franciele B., Poletto, Edina, Faqueti, Larissa, Iop, Gabrielle, Soares, Juliano, van der Linden, Vanessa, van der Linden, Helio, Lourenço, Charles M., Giugliani, Roberto

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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... von Civallero, Gabriel, Kubaski, Francyne, Pereira, Danilo, Rübensam, Gabriel, Herbst, Zackary M., Silva, Camilo, Trapp, Franciele B., Poletto, Edina, Faqueti, Larissa, Iop, Gabrielle, Soares, Juliano, van der Linden, Vanessa, van der Linden, Helio, Lourenço, Charles M., Giugliani, Roberto

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High-Risk Screening and Diagnosis of Inborn Errors of Metabolism von Gabriel Civallero PhD, Raquel de Kremer MD, PhD, Roberto Giugliani MD, PhD

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Monitoring of Phenylalanine Levels in Patients with Phenylketonuria Using Dried Blood Spots: a Comparison of Two Methods von Sebastião, Fernanda Medeiros, Burin, Maira Graeff, Civallero, Gabriel, Tirelli, Kristiane Michelin, Sitta, Angela, Coelho, Daniella de Moura, Vargas, Carmen Regla, Wajner, Moacir, Giugliani, Roberto, Bitencourt, Fernanda Hendges de, Schwartz, Ida Vanessa Doederlein

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Validation of a Multiplex Tandem Mass Spectrometry Method for the Detection of Selected Lysosomal Storage Diseases in Dried Blood Spots von Ribas, Graziela Schmitt, De Mari, Jurema Fátima, Civallero, Gabriel, de Souza, Heryk Motta, Burin, Maira Graeff, Vargas, Carmen Regla, Giugliani, Roberto

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High-Risk Screening and Diagnosis of Inborn Errors of Metabolism: A Practical Guide for Laboratories von Civallero, Gabriel, de Kremer, Raquel, Giugliani, Roberto

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Twelve different enzyme assays on dried-blood filter paper samples for detection of patients with selected inherited lysosomal storage diseases von Civallero, Gabriel, Michelin, Kristiane, de Mari, Jurema, Viapiana, Marli, Burin, Maira, Coelho, Janice C., Giugliani, Roberto

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Galactocerebrosidase assay on dried-leukocytes impregnated in filter paper for the detection of Krabbe disease von Camelier, Marli, Civallero, Gabriel, De Mari, Jurema, Burin, Maira, Giugliani, Roberto

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Enzyme assays in dried-cell filter paper samples: A new tool for the identification of lysosomal storage disorders von Civallero, Gabriel, De Mari, Jurema, Viapiana, Marli, Burin, Maira, Giugliani, Roberto

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Diagnosing Mucopolysaccharidosis type IV a by the fluorometric assay of N-Acetylgalactosamine-6-sulfate sulfatase activity von Shams, Sedigheh, Barazandeh Tehrani, Maliheh, Civallero, Gabriel, Minookherad, Koosha, Giugliani, Roberto, Setoodeh, Aria, Haghi Ashtiani, Mohammad Taghi

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Oxysterol measurement in plasma: A potentially useful tool for the screening of Niemann–Pick disease type C disease von Giugliani, Roberto, Ribas, Graziela, Civallero, Gabriel, de Souzal, Heryk Motta, Burin, Maira, Michelin-Tirelli, Kristiane, Saraiva-Pereira, Maria Luiza, Polese-Bonatto, Márcia, Gil, Mirela Severo, Kessler, Rejane Gus, Souza, Fernanda Timm, Freitas, Talita, Souza, Carolina, Vairo, Filippo Pinto, Rafaelli, Célio Luiz, Trapp, Franciele Barbosa, Vargas, Carmen Regla

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Leukodystrophy and CSF purine abnormalities associated with isolated 3-methylcrotonyl-CoA carboxylase deficiency von DODELSON DE KREMER, Raquel, LATINI, Alexandra, SUORMALA, Terttu, BAUMGARTNER, E. Regula, LAROVERE, Laura, CIVALLERO, Gabriel, GUELBERT, Norberto, PASCHINI-CAPRA, Ana, DEPETRIS-BOLDINI, Catalina, QUIROGA MAYOR, Carlos

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Newborn screening for lysosomal disorders in Brazil: A pilot study using customized fluorimetric assays von Bender, Fernanda, Burin, Maira G., Tirelli, Kristiane M., Medeiros, Fernanda, Bitencourt, Fernanda Hendges De, Civallero, Gabriel, Francyne Kubaski, Heydy Bravo, Daher, Antoine, Carnier, Vanessa, Franco, José F. S., Giugliani, Roberto

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Barth's syndrome-like disorder: A new phenotype with a maternally inherited A3243G substitution of mitochondrial DNA (MELAS mutation) von De Kremer, Raquel Dodelson, Paschini-Capra, Ana, Bacman, Sandra, Argaraña, Carlos, Civallero, Gabriel, Kelley, Richard I., Guelbert, Norberto, Latini, Alexandra, de Halac, Inés Noher, Giner-Ayala, Alicia, Johnston, Jennifer, Proujansky, Roy, Gonzalez, Iris, Depetris-Boldini, Catalina, Oller-Ramírez, Ana, Angaroni, Celia, Theaux, Ricardo A., Hliba, Ernesto, Juaneda, Ernesto

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