Biochemical and molecular characteristics among infants with abnormal newborn screen for very-long-chain acyl-CoA dehydrogenase deficiency: A single center experience
Objective: To define the biochemical and molecular characteristics and diagnostic outcomes of a large US cohort of VLCAD deficiency positive cases as detected by newborn screening (NBS) with MS:MS. This relatively common disorder of fatty acid oxidation is screened for in every state in America and...
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| Huvudupphov: | , , , |
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| Materialtyp: | Artigo |
| Språk: | Inglês |
| Utgiven: |
Elsevier
2023-12-01
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| Serie: | Molecular Genetics and Metabolism Reports |
| Ämnen: | |
| Länkar: | http://www.sciencedirect.com/science/article/pii/S2214426923000484 |
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