Newborn screening for isovaleric acidemia in Quanzhou, China

2020/06/04 by Yiming Lin, Dongmei Chen, Weilin Peng +6 · 7 citations
Biochemistry, Genetics and Molecular Biology · #Metabolism and Genetic Disorders #Genomics and Rare Diseases #Amino Acid Enzymes and Metabolism

paper · doi:10.1016/j.cca.2020.06.010

Citations

• Unusual Metabolites in a Patient with Isovaleric Acidemia
• Eight novel mutations detected from eight Chinese patients with isovaleric acidemia
• Molecular analysis using targeted next generation DNA sequencing and clinical spectrum of Mexican patients with isovaleric acidemia

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• Acylcarnitines: Nomenclature, Biomarkers, Therapeutic Potential, Drug Targets, and Clinical Trials
• Impact of Newborn Screening on Survival and Developmental Outcome in Classic Isovaleric Aciduria: A Meta‐Analysis
• Biochemical and molecular features of Chinese patients with glutaric acidemia type 1 detected through newborn screening. [europepmc]
• A Simple Flow Injection Analysis-Tandem Mass Spectrometry Method to Reduce False Positives of C5-Acylcarnitines Due to Pivaloylcarnitine Using Reference Ions. [europepmc]
• Prenatal Diagnosis of Isovaleric Acidemia From Amniotic Fluid Using Genetic and Biochemical Approaches. [europepmc]
• Analysis of the genotype-phenotype correlation in isovaleric acidaemia: A case report of long-term follow-up of a chinese patient and literature review. [europepmc]
• Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020-2023). [europepmc]