Functional characterization of compound heterozygous HLCS variants reveals exon skipping and impaired biotin responsiveness in holocarboxylase synthetase deficiencyon October 23, 2026 at 12:55 pm
Publication date: 15 March 2027 Source: Clinica Chimica Acta, Volume 594 Author(s): Jin-Kyu Kang, Eui-Jeon Woo, Sook-Za Kim, Haing-Woon Baik