Associated Papers
Long-term monitoring for short/branched-chain acyl-CoA dehydrogenase deficiency: A single-center 4-year experience and open issues.
Rossi A et al.
Frontiers in Pediatrics, 2022
Clinical, biochemical, and molecular spectrum of short/branched-chain acyl-CoA dehydrogenase deficiency: two new cases and review of literature.
Porta F et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2019
Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing.
Gal M et al.
Bmc Medical Genomics, 2016
27175728 (PubMed )
Supplement: 12920_2016_184_MOESM1_ESM.xls › S1
Inborn errors of isoleucine degradation: a review.
Korman SH
Molecular Genetics and Metabolism, 2006
2-ethylhydracrylic aciduria in short/branched-chain acyl-CoA dehydrogenase deficiency: application to diagnosis and implications for the R-pathway of isoleucine oxidation.
Korman SH et al.
Clinical Chemistry, 2005
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