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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

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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

US-AADC-0457 | April 2023
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US-CORP-0330 | July 2022


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