Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency

Keyphrases

• Genotype 100%
• Biochemical Phenotype 100%
• Medium-chain acyl-CoA Dehydrogenase Deficiency 100%
• Newborn Screening 100%
• ACADM 100%
• Sequence Variation 25%
• Population Screening 16%
• Germany 8%
• Small Deletion 8%
• Missense mutation 8%
• Phenotypic Outcome 8%
• Inherited Defect 8%
• Splice Variant 8%
• Genetic Heterogeneity 8%
• Adverse Outcomes 8%
• L-carnitine 8%
• Metabolic Stress 8%
• Technical Guidance 8%
• Disease Diagnosis 8%
• Dietary Measures 8%
• Compound Heterozygous mutation 8%
• Disease Expression 8%
• Fatty Acid Oxidation 8%
• Overall Benefit 8%
• Nonsense mutation 8%
• Deficiency Diseases 8%
• Screening Data 8%
• Birth Incidence 8%
• Population Assessment 8%
• Bavaria 8%
• Undiagnosed Diseases 8%
• German Population 8%
• Medical Guidance 8%
• Carrier Screening 8%
• Technical Validation 8%
• Heterozygous State 8%
• Folding Variant 8%

Biochemistry, Genetics and Molecular Biology

• Newborn Screening 100%
• Acyl-CoA 100%
• ACADM 100%
• Medium-Chain Acyl-CoA Dehydrogenase 100%
• Mass Screening 16%
• Allele 8%
• Genetic Heterogeneity 8%
• Missense Mutation 8%
• Decision Making 8%
• Beta Oxidation 8%
• Nonsense Mutation 8%