Biochemical and molecular characteristics among infants with abnormal newborn screen for very-long-chain acyl-CoA dehydrogenase deficiency: A single center experience
Author:
Funder
National Institutes of Health
National Institute of General Medical Sciences
Publisher
Elsevier BV
Subject
Endocrinology,Genetics,Molecular Biology
Reference24 articles.
1. Diagnosis of very long chain acyl-dehydrogenase deficiency from an infant’s newborn screening card;Wood;Pediatrics.,2001
2. Rhabdomyolysis as a presenting manifestation of very long-chain acyl-coenzyme a dehydrogenase deficiency;Oliveira;Clin. Pract.,2013
3. Impact of newborn screening for very-long-chain acyl-CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes;Bleeker;J. Inherit. Metab. Dis.,2019
4. VLCAD deficiency: pitfalls in newborn screening and confirmation of diagnosis by mutation analysis;Boneh;Mol. Genet. Metab.,2006
5. Impact of newborn screening on the reported incidence and clinical outcomes associated with medium- and long-chain fatty acid oxidation disorders;Marsden;Genet. Med.,2021
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