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Neonatal diagnosis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and implications for newborn screening by tandem mass spectrometry

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Journal of Inherited Metabolic Disease

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References

  • Duran M, Wanders RJ, de Jager J, et al (1991) 3–Hydroxydicarboxylic aciduria due to long chain 3–hydroxyacyl–coenzyme A dehydrogenase deficiency associated with sudden neonatal death: protective e.ect of medium–chain triglyceride treatment. Eur J Pediatr 150: 190–195.

    PubMed  Google Scholar 

  • Pons R, Roig M, Riudor E, et al (1996) The clinical spectrum of long chain 3–hydroxyacyl– CoA dehydrogenase deficiency. Pediatr Neurol 14: 236–243.

    PubMed  Google Scholar 

  • Tyni T, Palotie A, Viinikka L, et al (1997) Long chain 3–hydroxyacy–coenzyme A dehydrogenase deficiency with the G1528C mutation: clinical presentation of 13 patients. J Pediatr 130: 67–76.

    PubMed  Google Scholar 

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Carpenter, K.H., Wilcken, B. Neonatal diagnosis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and implications for newborn screening by tandem mass spectrometry. J Inherit Metab Dis 22, 840–841 (1999). https://doi.org/10.1023/A:1005566309942

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  • DOI: https://doi.org/10.1023/A:1005566309942

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