Biochemical diagnosis of aromatic-L-amino acid decarboxylase deficiency (AADCD) by assay of AADC activity in plasma using liquid chromatography/tandem mass spectrometry-Reference-Cited by-同舟云学术

Biochemical diagnosis of aromatic-L-amino acid decarboxylase deficiency (AADCD) by assay of AADC activity in plasma using liquid chromatography/tandem mass spectrometry

Published:2022-09 Issue: Volume:32 Page:100888
ISSN:2214-4269
Container-title:Molecular Genetics and Metabolism Reports
language:en
Short-container-title:Molecular Genetics and Metabolism Reports

Author:

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

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology

Reference15 articles.

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2. Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency;Wassenberg;Orphanet J. Rare Dis.,2017

3. Diagnosis of aromatic L-amino acid decarboxylase deficiency by measuring 3-O-methyldopa concentrations in dried blood spots;Chen;Clin. Chim. Acta,2014

4. Evaluation of 3-O-methyldopa as a biomarker for aromatic L-amino acid decarboxylase deficiency in 7 Brazilian cases;Kubaski;Mol. Genet. Metab. Rep.,2021

5. Aromatic L-amino acid decarboxylase deficiency: diagnostic methodology;Hyland;Clin. Chem.,1992

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1. A comprehensive review on recent trends in amino acids detection through analytical techniques;SEPARATION SCIENCE PLUS;2023-08-15

2. Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes;Molecular Genetics and Metabolism;2023-07

3. Corrigendum to “ Biochemical diagnosis of aromatic-L-amino acid decarboxylase deficiency (AADCD) by assay of AADC activity in plasma using liquid chromatography/tandem mass spectrometry” [32/100888 (2022) page 1–4].;Molecular Genetics and Metabolism Reports;2023-03

4. Exploring the mechanism of compromised thermostability of aromatic l-amino acid decarboxylase from Bacillus atrophaeus through comparative molecular dynamics simulations;Computational and Theoretical Chemistry;2023-01