Associated Papers
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
39969324 (PubMed )
Supplement: medi-103-e41064-s001.xlsx › S2
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
35193651 (PubMed )
Supplement: 13023_2022_2231_MOESM2_ESM.xlsx › InputVariantsForDesign
Gene variants predisposing to SIDS: current knowledge.
Opdal SH et al.
Forensic Science, Medicine, and Pathology, 2011
A novel mutation of the ACADM gene (c.145C>G) associated with the common c.985A>G mutation on the other ACADM allele causes mild MCAD deficiency: a case report.
Dessein AF et al.
Orphanet Journal of Rare Diseases, 2010
Ethnicity of children with homozygous c.985A>G medium-chain acyl-CoA dehydrogenase deficiency: findings from screening approximately 1.1 million newborn infants.
Khalid JM et al.
Journal of Medical Screening, 2008
2-methylbutyryl-CoA dehydrogenase deficiency associated with autism and mental retardation: a case report.
Kanavin OJ et al.
Journal of Medical Case Reports, 2007
Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping.
Madsen PP et al.
Human Genetics, 2006
Homozygosity for a severe novel medium-chain acyl-CoA dehydrogenase (MCAD) mutation IVS3-1G > C that leads to introduction of a premature termination codon by complete missplicing of the MCAD mRNA and is associated with phenotypic diversity ranging from sudden neonatal death to asymptomatic status.
Korman SH et al.
Molecular Genetics and Metabolism, 2004
A fatal neonatal presentation of medium-chain acyl coenzyme a dehydrogenase deficiency.
Cyriac J et al.
The Journal of International Medical Research, 0
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