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
Exploring GBA1 gene in Parkinson's disease: Prevalence and variant spectrum from Asia minor.
Koç Yekedüz M et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025
Qatar's National Expanded Metabolic Newborn Screening Program: Incidence and Outcomes.
Jamaleddin T et al.
International Journal of Neonatal Screening, 2025
Monoallelic de novo variants in DDX17 cause a neurodevelopmental disorder.
Seaby EG et al.
Brain : a Journal of Neurology, 2025
Experiences from dual genome next-generation sequencing panel testing for mitochondrial disorders: a comprehensive molecular diagnosis.
Gorman E et al.
Frontiers in Genetics, 2025
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
Concordance Between Biochemical and Molecular Diagnosis Obtained by WES in Mexican Patients with Inborn Errors of Intermediary Metabolism: Utility for Therapeutic Management.
Vela-Amieva M et al.
International Journal of Molecular Sciences, 2024
Structural insights into the pathogenicity of point mutations in human acyl-CoA dehydrogenase homotetramers.
Faraji H et al.
Journal of Biological Physics, 2024
Clinical utility of a genetic diagnosis in individuals with cerebral palsy and related motor disorders.
Santana Almansa A et al.
Annals of Clinical and Translational Neurology, 2024
Chinese genetic variation database of inborn errors of metabolism: a systematic review of published variants in 13 genes.
Guo Y et al.
Orphanet Journal of Rare Diseases, 2023
Free carnitine concentrations and biochemical parameters in medium-chain acyl-CoA dehydrogenase deficiency: Genotype-phenotype correlation.
Weiss KJ et al.
Clinical Genetics, 2023
Analysis of clinically relevant variants from ancestrally diverse Asian genomes.
Chan SH et al.
Nature Communications, 2022
Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region.
Martín-Rivada Á et al.
Jimd Reports, 2022
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
Mendelian etiologies identified with whole exome sequencing in cerebral palsy.
Chopra M et al.
Annals of Clinical and Translational Neurology, 2022
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians.
Kausthubham N et al.
Human Mutation, 2021
NGS-based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results - a pilot study.
Singh K et al.
Bmc Medical Genetics, 2020
A nationwide retrospective observational study of population newborn screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in the Netherlands.
Jager EA et al.
Journal of Inherited Metabolic Disease, 2019
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
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
Convert your favorite protein modeling program into a mutation predictor: "MODICT".
Tanyalcin I et al.
Bmc Bioinformatics, 2016
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
Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.
Yu F et al.
Plos One, 2015
Medium-Chain Acyl-CoA Dehydrogenase Deficiency: Evaluation of Genotype-Phenotype Correlation in Patients Detected by Newborn Screening.
Gramer G et al.
Jimd Reports, 2015
Medium-chain acyl-CoA deficiency: outlines from newborn screening, in silico predictions, and molecular studies.
Catarzi S et al.
Thescientificworldjournal, 2013
Medium chain acyl-CoA dehydrogenase deficiency detected among Hispanics by New Jersey newborn screening.
Anderson S et al.
American Journal of Medical Genetics. Part A, 2012
MCAD deficiency in Denmark.
Andresen BS et al.
Molecular Genetics and Metabolism, 2012
Functional effects of different medium-chain acyl-CoA dehydrogenase genotypes and identification of asymptomatic variants.
Sturm M et al.
Plos One, 2012
Relevance of expanded neonatal screening of medium-chain acyl co-a dehydrogenase deficiency: outcome of a decade in galicia (Spain).
Couce ML et al.
Jimd Reports, 2011
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
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
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
Adult presentations of medium-chain acyl-CoA dehydrogenase deficiency (MCADD).
Lang TF
Journal of Inherited Metabolic Disease, 2009
Medium-chain acyl-CoA dehydrogenase deficiency: genotype-biochemical phenotype correlations.
Waddell L et al.
Molecular Genetics and Metabolism, 2006
Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency.
Maier EM et al.
Human Mutation, 2005
Rapid, comprehensive screening of the human medium chain acyl-CoA dehydrogenase gene.
McKinney JT et al.
Molecular Genetics and Metabolism, 2004
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
Anesthetic considerations for a patient with compound heterozygous medium-chain Acyl-CoA dehydrogenase deficiency.
Wang SY et al.
Anesthesia and Analgesia, 2002
Molecular and functional characterisation of mild MCAD deficiency.
Zschocke J et al.
Human Genetics, 2001
Biochemical characterisation of mutations of human medium-chain acyl-CoA dehydrogenase.
Udvari S et al.
Advances in Experimental Medicine and Biology, 1999
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
Rapid detection of medium chain acyl-CoA dehydrogenase gene mutations by non-radioactive, single strand conformation polymorphism minigels.
Iolascon A et al.
Journal of Medical Genetics, 1994
Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: a global perspective.
Rhead WJ
Journal of Inherited Metabolic Disease, 0