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Very Long-Chain Acyl-CoA Dehydrogenase Deficiency in a Patient with Normal Newborn Screening by Tandem Mass Spectrometry |
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| Authors: | Can Ficicioglu Curtis R Coughlin II Michael J Bennett Marc Yudkoff |
| Institution: | a Department of Pediatrics, Section of Biochemical Genetics, The Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA b Department of Pathology & Laboratory Medicine, Metabolic Disease Laboratory, The Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA |
| Abstract: | |
| Keywords: | C2 Acetyl C12 Dodecanoyl C14 Tetradecanoyl C14:1 Tetradecenoyl-carnitine C14:2 Tetradecandienoyl C16 Hexadecanoyl C18 Octodecanoyl VLCAD Very long-chain acyl-CoA dehydrogenase VLCADD Very long-chain acyl-CoA dehydrogenase deficiency |
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