Biochemical diagnosis of aromatic-L-amino acid decarboxylase deficiency (AADCD) by assay of AADC activity in plasma using liquid chromatography/tandem mass spectrometry.
Journal Information
Full Title: Mol Genet Metab Rep
Abbreviation: Mol Genet Metab Rep
Country: Unknown
Publisher: Unknown
Language: N/A
Publication Details
Subject Category: Genetics & Heredity
Available in Europe PMC: Yes
Available in PMC: Yes
PDF Available: No
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"The authors wish to acknowledge Dr. Graziella Rodrigues, Celio Rafaelli and Fabrizio Barbosa for the logistic and administrative support. This work was partially supported by 10.13039/501100007381INAGEMP, Genetics for All Institute (IGPT), FundMed, Fundação CAPES, and 10.13039/100013223PTC Therapeutics."
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Last Updated: Aug 05, 2025