Navegação Ciências da Saúde por Autor "Civallero, Gabriel Eduardo Santiago"
Resultados 1-5 de 5
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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
Civallero, Gabriel Eduardo Santiago; Kubaski, Francyne; Pereira, Danilo; Rübensam, Gabriel; Herbst, Zackary M.; Silva, Camilo; Trapp, Franciele Barbosa; Poletto, Édina; Faqueti, Larissa Gabriela; Iop, Gabrielle Dineck; Soares, Juliano; Linden, Vanessa van der; Lourenço, Charles Marques; Giugliani, Roberto (2022) [Artigo de periódico]Aromatic l-amino acid decarboxylase (AADC, EC 4.1.1.28) deficiency is a rare genetic disorder characterized by developmental delay, oculogyric crises, autonomic dysfunction and other problems, caused by biallelic mutations ... -
Diagnosing mucopolysaccharidosis type IV a by the fluorometric assay of N-Acetylgalactosamine-6-sulfate sulfatase activity
Shams, Sedigheh; Barazandeh-Tehrani, Maliheh; Civallero, Gabriel Eduardo Santiago; Minookherad, Koosha; Giugliani, Roberto; Setoodeh, Aria; Haghi-Ashtiani, Mohammad Taghi (2017) [Artigo de periódico]Background: Mucopolysaccharidosis type IVA, also known as Morquio A or MPS IV A, is an autosomal recessive disease caused by the deficiency of the lysosomal enzyme N-acetylgalactosamine-6-sulfate sulfatase (GALNS). The ... -
High-risk screening and diagnosis of inborn errors of metabolism : a practical guide for laboratories
Civallero, Gabriel Eduardo Santiago; Kremer, Raquel; Giugliani, Roberto (2018) [Artigo de periódico]Inborn errors of metabolism (IEM) are a large and heterogeneous group of genetic diseases. In most of these conditions, the presence of variants in specific genes leads to enzyme deficiencies that affect a particular ... -
Monitoring of phenylalanine levels in patients with phenylketonuria using dried blood spots : a comparison of two methods
Sebastião, Fernanda Medeiros; Burin, Maira Graeff; Civallero, Gabriel Eduardo Santiago; Tirelli, Kristiane Michelin; Sitta, Angela; Coelho, Daniella de Moura; Vargas, Carmen Regla; Wajner, Moacir; Giugliani, Roberto; Bitencourt, Fernanda Hendges de; Schwartz, Ida Vanessa Doederlein (2020) [Artigo de periódico]Phenylketonuria (PKU) is caused by deficient activity of phenylalanine hydroxylase (PAH), responsible for the conversion of phenylalanine (Phe) to tyrosine (Tyr). Monitoring of patients with PKU requires the measurement ... -
Newborn screening for lysosomal disorders in Brazil : a pilot study using customized fluorimetric assays
Bender, Fernanda; Burin, Maira Graeff; Medeiros, Fernanda; Bitencourt, Fernanda Hendges de; Civallero, Gabriel Eduardo Santiago; Kubaski, Francyne; Bravo, Heydy; Daher, Antonio; Carnier, Vanessa; Franco, José Franco; Giugliani, Roberto (2020) [Artigo de periódico]Lysosomal storage disorders (LSDs) are a group of genetic disorders characterized by deficiency of specific lysosomal enzymes. In general, patients are clinically normal at birth, and progressively develop severe signs and ...