Publication: Prevalence of aromatic L-amino acid decarboxylase (AADC) deficiency in at-risk populations
This original article, published in the Pediatric Neurology journal, outlines the prevalence of AADC deficiency in an at-risk population and discusses the implications on the understanding of the epidemiology and genetics of AADC deficiency
Review the outcomes of a retrospective analysis of 19,577 cerebrospinal fluid samples initially diagnosed by one of the recommended core diagnostic tests
The additional cases of AADC deficiency identified from combined results from these analyses are presented and the implications on the estimated prevalence are discussed
Understand the importance of functional studies when investigating pathogenicity of variant changes in this gene
Hyland K, Reott M. Pediatr Neurol. 2020;106:38–42
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GL-AADC-0700 | June 2021
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