Associated Papers
Pathogenic Variants in Mennonites From Southern Brazil: Implications for Preventive Measures in Public Health.
Mayer de Lima LB et al.
Clinical Genetics, 2026
Genetic testing after sudden death with negative ancillary investigations: A French prospective study with multidisciplinary collaboration.
Osouf J et al.
Forensic Science International. Genetics, 2026
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
Recurrent familial case of early childhood sudden death: Complex post mortem genetic investigations.
Krebs-Drouot L et al.
Forensic Science International. Genetics, 2024
All exons are not created equal-exon vulnerability determines the effect of exonic mutations on splicing.
Holm LL et al.
Nucleic Acids Research, 2024
Free carnitine concentrations and biochemical parameters in medium-chain acyl-CoA dehydrogenase deficiency: Genotype-phenotype correlation.
Weiss KJ et al.
Clinical Genetics, 2023
Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.
Huang X et al.
Orphanet Journal of Rare Diseases, 2022
Insights into National Laboratory Newborn Screening and Future Prospects.
Mujamammi AH
Medicina (kaunas, Lithuania), 2022
Vulnerable exons, like ACADM exon 5, are highly dependent on maintaining a correct balance between splicing enhancers and silencers.
Holm LL et al.
Human Mutation, 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
Medium chain acyl-CoA dehydrogenase deficiency in a premature infant.
Dobrowolski SF et al.
Pediatric Reports, 2017
221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative.
Bentler K et al.
Molecular Genetics and Metabolism, 2016
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
Medium-chain acyl-CoA dehydrogenase deficiency in Saudi Arabia: incidence, genotype, and preventive implications.
Al-Hassnan ZN et al.
Journal of Inherited Metabolic Disease, 2010
The first three years of screening for medium chain acyl-CoA dehydrogenase deficiency (MCADD) by newborn screening ontario.
Kennedy S et al.
Bmc Pediatrics, 2010
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
A novel tandem mass spectrometry method for rapid confirmation of medium- and very long-chain acyl-CoA dehydrogenase deficiency in newborns.
ter Veld F et al.
Plos One, 2009
Genetic defects in fatty acid beta-oxidation and acyl-CoA dehydrogenases. Molecular pathogenesis and genotype-phenotype relationships.
Gregersen N et al.
European Journal of Biochemistry, 2004
Newborn screening for medium chain acyl-CoA dehydrogenase deficiency (MCADD) in the UK.
Goddard P
The Journal of Family Health Care, 2004
The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is there correlation between genotype and phenotype?
Andresen BS et al.
Human Molecular Genetics, 1997