Associated Papers
Clinical, Biochemical and Molecular Characterisation of Newborns With Fatty Acid β-Oxidation Disorders: Novel Variants in the ACADM, ACADVL and SLC22A5 Genes.
Hidalgo Mayoral I et al.
Clinical Genetics, 2025
Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) Newborn Screening in Italy: Five Years' Experience from a Nationwide Program.
Ruoppolo M et al.
International Journal of Neonatal Screening, 2025
Combined biochemical profiling and DNA sequencing in the expanded newborn screening for inherited metabolic diseases: the experience in an Italian reference center.
Fecarotta S et al.
Orphanet Journal of Rare Diseases, 2025
Analysis of clinically relevant variants from ancestrally diverse Asian genomes.
Chan SH et al.
Nature Communications, 2022
Impact of Newborn Screening and Early Dietary Management on Clinical Outcome of Patients with Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency and Medium Chain Acyl-CoA Dehydrogenase Deficiency-A Retrospective Nationwide Study.
Rücklová K et al.
Nutrients, 2021
Genotype and residual enzyme activity in medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: Are predictions possible?
Tucci S et al.
Journal of Inherited Metabolic Disease, 2021
Variants of uncertain significance in newborn screening disorders: implications for large-scale genomic sequencing.
Narravula A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
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
Allelic diversity in MCAD deficiency: the biochemical classification of 54 variants identified during 5 years of ACADM sequencing.
Smith EH et al.
Molecular Genetics and Metabolism, 2010
Lack of genotype-phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York State.
Arnold GL et al.
Molecular Genetics and Metabolism, 2010
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
Novel mutations causing medium chain acyl-CoA dehydrogenase deficiency: under-representation of the common c.985 A > G mutation in the New York state population.
Nichols MJ et al.
American Journal of Medical Genetics. Part A, 2008