Associated Papers
Elective genomic screening: results of the implementation of a whole genome sequencing program at a medical check-up unit in Spain.
Palao B et al.
Frontiers in Genetics, 2025
41659036 (PubMed )
Supplement: DataSheet1.pdf
Screening of MCAD deficiency in Japan: 16years' experience of enzymatic and genetic evaluation.
Tajima G et al.
Molecular Genetics and Metabolism, 2016
Significance of ACADM mutations identified through newborn screening of MCAD deficiency in Japan.
Hara K et al.
Molecular Genetics and Metabolism, 2016
A novel molecular aspect of Japanese patients with medium-chain acyl-CoA dehydrogenase deficiency (MCADD): c.449-452delCTGA is a common mutation in Japanese patients with MCADD.
Purevsuren J et al.
Molecular Genetics and Metabolism, 2009
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