Biochemical diagnosis of aromatic-L-amino acid decarboxylase deficiency (AADCD) by assay of AADC activity in plasma using liquid chromatography/tandem mass spectrometry.
Mol Genet Metab Rep
; 32: 100888, 2022 Sep.
Article
en En
| MEDLINE
| ID: mdl-35769135
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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MEDLINE
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Diagnostic_studies
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2022
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Article