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Browse selected scientific articles published in peer-reviewed international and interdisciplinary journals to gain insights into the clinical presentation, and genetic and molecular basis of aromatic L-amino acid decarboxylase (AADC) deficiency

Please select the publication review of interest below:

This case series, published in the European Journal of Paedriatics, explores the clinical presentation and diagnostic pathway for 16 patients with aromatic L-amino acid decarboxylase (AADC) deficiency in the Middle East. This report is the largest series of patients with confirmed AADC deficiency from this region reported to date
This original study article, published in the Journal of Chromatography B, outlines a study to establish a reliable method to assess both 5-hydroxytryptophan (5-HTP) and 3-O-methyldopa (3-OMD) in dried blood spot (DBS) analysis through ultra-performance liquid chromatography tandem mass spectrometry (UPLC-MS/MS) technology, for the biochemical diagnosis of AADC deficiency

From systematic reviews to case reports, learn more about the pathophysiology and emerging strategies for the management of AADC deficiency

MED-ALL-AADC-2100474 I February 2024
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