Associated Papers
Driver mutations in USP8 wild-type Cushing's disease.
Sbiera S et al.
Neuro-oncology, 2019
31222332 (PubMed )
Supplement: noz109_suppl_supplementary_material.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
Clinical and molecular aspects of Japanese children with medium chain acyl-CoA dehydrogenase deficiency.
Purevsuren J et al.
Molecular Genetics and Metabolism, 2012
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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