Biochemical and molecular characteristics among infants with abnormal newborn screen for very-long-chain acyl-CoA dehydrogenase deficiency: A single center experience-Reference-Cited by-同舟云学术

Biochemical and molecular characteristics among infants with abnormal newborn screen for very-long-chain acyl-CoA dehydrogenase deficiency: A single center experience

Published:2023-12 Issue: Volume:37 Page:101002
ISSN:2214-4269
Container-title:Molecular Genetics and Metabolism Reports
language:en
Short-container-title:Molecular Genetics and Metabolism Reports

Author:

Upadia Jariya,Noh Grace,Lefante John J.,Andersson Hans C.

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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1. Using the C14:1/Medium-Chain Acylcarnitine Ratio Instead of C14:1 to Reduce False-Positive Results for Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency in Newborn Screening in Japan;International Journal of Neonatal Screening;2024-02-20