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

Transparency Score
2/6
33.3% Transparent
Transparency Indicators
Click on green indicators to view evidence text
Core Indicators
Data Sharing
Code Sharing
COI Disclosure
Evidence found in paper:

"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."

Protocol Registration
Open Access
Paper is freely available to read
Additional Indicators
Replication
Novelty Statement
Assessment Info

Tool: rtransparent

OST Version: N/A

Last Updated: Aug 05, 2025