Associated Papers
Newborn screening, genetic analysis, and long-term follow-up of 89 cases with short-chain acyl-CoA dehydrogenase deficiency (SCADD).
Qian G et al.
Molecular Genetics and Metabolism Reports, 2026
Comprehensive metabolomic/lipidomic characterization of patients with mitochondrial ATP synthase, short-chain acyl-CoA dehydrogenase and combined variant deficiencies.
Dobešová D et al.
Heliyon, 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
Expanded newborn screening for inborn errors of metabolism and genetic variants in Xinjiang, China.
Zhang H et al.
Frontiers in Genetics, 2025
Incidence and disease spectrum of inherited metabolic diseases screened by tandem mass spectrometry in Huai'an from 2018 to 2024.
Ou MM et al.
Frontiers in Pediatrics, 2025
Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.
Shchubelka K et al.
Journal of Neurodevelopmental Disorders, 2024
Structural insights into the pathogenicity of point mutations in human acyl-CoA dehydrogenase homotetramers.
Faraji H et al.
Journal of Biological Physics, 2024
ClinVar and HGMD genomic variant classification accuracy has improved over time, as measured by implied disease burden.
Sharo AG et al.
Genome Medicine, 2023
Combined MITOchondrial-NUCLEAR (MITO-NUCLEAR) Analysis for Mitochondrial Diseases Diagnosis: Validation and Implementation of a One-Step NGS Method.
Barretta F et al.
Genes, 2023
Diverse and unselected adults with clinically relevant ACADS variants lack evidence of metabolic disease.
Breilyn MS et al.
Molecular Genetics and Metabolism, 2023
An explainable model of host genetic interactions linked to COVID-19 severity.
Onoja A et al.
Communications Biology, 2022
Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.
Cukier HN et al.
Npj Parkinson's Disease, 2022
Clinical characteristics and related gene mutations of infants with short-chain acyl-CoA dehydrogenase deficiency by neonatal screening in Beijing.
Gong L et al.
Zhejiang Da Xue Xue Bao. Yi Xue Ban = Journal of Zhejiang University. Medical Sciences, 2022
Over-Mutated Mitochondrial, Lysosomal and TFEB-Regulated Genes in Parkinson's Disease.
Segur-Bailach E et al.
Journal of Clinical Medicine, 2022
Variants in the ethylmalonyl-CoA decarboxylase (ECHDC1) gene: a novel player in ethylmalonic aciduria?
Fogh S et al.
Journal of Inherited Metabolic Disease, 2021
Tandem Mass Spectrometry Screening for Inborn Errors of Metabolism in Newborns and High-Risk Infants in Southern China: Disease Spectrum and Genetic Characteristics in a Chinese Population.
Tan J et al.
Frontiers in Genetics, 2021
Neonatal Screening on Tandem Mass Spectrometry as a Powerful Tool for the Reassessment of the Prevalence of Underestimated Diseases in Newborns and Their Family Members: A Focus on Short Chain Acyl-CoA Dehydrogenase Deficiency.
Messina M et al.
International Journal of Neonatal Screening, 2020
Genomic Analysis of Historical Cases with Positive Newborn Screens for Short-Chain Acyl-CoA Dehydrogenase Deficiency Shows That a Validated Second-Tier Biochemical Test Can Replace Future Sequencing.
Adhikari AN et al.
International Journal of Neonatal Screening, 2020
Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases.
Tan J et al.
Ebiomedicine, 2020
Genetic studies of urinary metabolites illuminate mechanisms of detoxification and excretion in humans.
Schlosser P et al.
Nature Genetics, 2020
Detection of allele frequencies of common c. 511C>T and c.625G>A variants in the ACADS gene in the Turkish population.
Kılıç M et al.
The Turkish Journal of Pediatrics, 2020
New Ratios for Performance Improvement for Identifying Acyl-CoA Dehydrogenase Deficiencies in Expanded Newborn Screening: A Retrospective Study.
Wang B et al.
Frontiers in Genetics, 2019
Expanded Newborn Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry in Suzhou, China: Disease Spectrum, Prevalence, Genetic Characteristics in a Chinese Population.
Wang T et al.
Frontiers in Genetics, 2019
Updated recommendation for the benign stand-alone ACMG/AMP criterion.
Ghosh R et al.
Human Mutation, 2018
Structural Biology Helps Interpret Variants of Uncertain Significance in Genes Causing Endocrine and Metabolic Disorders.
Ittisoponpisan S et al.
Journal of the Endocrine Society, 2018
An unusually high frequency of SCAD deficiency caused by two pathogenic variants in the ACADS gene and its relationship to the ethnic structure in Slovakia.
Lisyová J et al.
Bmc Medical Genetics, 2018
Sources of discordance among germ-line variant classifications in ClinVar.
Yang S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Short-chain acyl-CoA dehydrogenase deficiency: from gene to cell pathology and possible disease mechanisms.
Nochi Z et al.
Journal of Inherited Metabolic Disease, 2017
Novel magnetic resonance imaging findings in a patient with short chain acyl CoA dehydrogenase deficiency.
Chiplunkar S et al.
Metabolic Brain Disease, 2017
Fluxomic evidence for impaired contribution of short-chain acyl-CoA dehydrogenase to mitochondrial palmitate β-oxidation in symptomatic patients with ACADS gene susceptibility variants.
Dessein AF et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2017
Molecular Guided Therapy Provides Sustained Clinical Response in Refractory Choroid Plexus Carcinoma.
Cornelius A et al.
Frontiers in Pharmacology, 2017
Microcephaly and developmental delay caused by short-chain acyl-CoA dehydrogenase deficiency.
Kılıç M et al.
The Turkish Journal of Pediatrics, 2017
Compound heterozygous mutations of ACADS gene in newborn with short chain acyl-CoA dehydrogenase deficiency: case report and literatures review.
An SJ et al.
Korean Journal of Pediatrics, 2016
[An analysis of clinical characteristics and gene mutation in two patients with medium- and short-chain acyl-CoA dehydrogenase deficiency].
Tan JQ et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2016
Clinical relevance of short-chain acyl-CoA dehydrogenase (SCAD) deficiency: Exploring the role of new variants including the first SCAD-disease-causing allele carrying a synonymous mutation.
Tonin R et al.
Bba Clinical, 2016
Combined defects in oxidative phosphorylation and fatty acid β-oxidation in mitochondrial disease.
Nsiah-Sefaa A et al.
Bioscience Reports, 2016
Exome sequencing of a family with lone, autosomal dominant atrial flutter identifies a rare variation in ABCB4 significantly enriched in cases.
Maciąg A et al.
Bmc Genetics, 2015
Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins.
Carmi S et al.
Nature Communications, 2014
Disease variants in genomes of 44 centenarians.
Freudenberg-Hua Y et al.
Molecular Genetics & Genomic Medicine, 2014
Proteomic investigation of cultivated fibroblasts from patients with mitochondrial short-chain acyl-CoA dehydrogenase deficiency.
Edhager AV et al.
Molecular Genetics and Metabolism, 2014
Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California.
Gallant NM et al.
Molecular Genetics and Metabolism, 2012
Follow-up of patients with short-chain acyl-CoA dehydrogenase and isobutyryl-CoA dehydrogenase deficiencies identified through newborn screening: one center's experience.
Pena L et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2012
Vulnerability to oxidative stress in vitro in pathophysiology of mitochondrial short-chain acyl-CoA dehydrogenase deficiency: response to antioxidants.
Zolkipli Z et al.
Plos One, 2011