Biochemical and Molecular Characteristics Among Infants with Abnormal Newborn Screen for Very-Long-Chain Acyl-Coa Dehydrogenase Deficiency: A Single Center Experience

Author:

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

Publisher

Elsevier BV

Reference22 articles.

1. Diagnosis of very long chain acyl-dehydrogenase deficiency from an infant's newborn screening card;J C Wood;Pediatrics,2001

2. Rhabdomyolysis as a presenting manifestation of very long-chain acyl-coenzyme a dehydrogenase deficiency;S F Oliveira;Clin Pract,2013

3. Impact of newborn screening for very-longchain acyl-CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes;J C Bleeker;J Inherit Metab Dis,2019

4. VLCAD deficiency: pitfalls in newborn screening and confirmation of diagnosis by mutation analysis;A 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;D Marsden;Genet Med,2021

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