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; 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

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.

Civallero G; BioDiscovery Laboratory and Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.
Kubaski F; INAGEMP, Porto Alegre, Brazil.
Pereira D; BioDiscovery Laboratory and Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.
Rübensam G; PPGBM and Department of Genetics, UFRGS, Porto Alegre, Brazil.
Herbst ZM; Waters Technologies Brazil, São Paulo, Brazil.
Silva C; Innovatox, São Paulo, Brazil.
Trapp FB; Centro de Pesquisa em Toxicologia e Farmacologia, PUC, Porto Alegre, Brazil.
Poletto E; Department of Chemistry, University of Washington, Seattle, USA.
Faqueti L; Waters Technologies Brazil, São Paulo, Brazil.
Iop G; BioDiscovery Laboratory and Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.
Soares J; BioDiscovery Laboratory and Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.
van der Linden V; PPGBM and Department of Genetics, UFRGS, Porto Alegre, Brazil.
van der Linden H; BioDiscovery Laboratory and Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.
Lourenço CM; BioDiscovery Laboratory and Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.
Giugliani R; BioDiscovery Laboratory and Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.

Mol Genet Metab Rep ; 32: 100888, 2022 Sep.

Article en En | MEDLINE | ID: mdl-35769135

Palabras clave

3-OMD, 3-O-methyldopa;; 3-ortho-methyl-dopa (3-OMD); AADC deficiency; AADC, Aromatic l-amino acid decarboxylase; AADCD, Aromatic l-amino acid decarboxylase deficiency;; Aromatic l-amino acid decarboxylase (AADC); DBS, dried blood spots;; DDC gene; Dopamine; LC-MS/MS, Liquid chromatography tandem mass spectrometry;; MRM, multiple reaction monitoring;; Tandem mass spectrometry

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Texto completo: 1 Banco de datos: MEDLINE Tipo de estudio: Diagnostic_studies Idioma: En Año: 2022 Tipo del documento: Article

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Texto completo: 1 Banco de datos: MEDLINE Tipo de estudio: Diagnostic_studies Idioma: En Año: 2022 Tipo del documento: Article