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A brief overview of galactosemia newborn screening in the United States

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Journal of Inherited Metabolic Disease

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References

  • Fernhoff PM (2010) Duarte galactosemia: how sweet is it? Clin Chem 56:1045–1046

    Article  CAS  PubMed  Google Scholar 

  • Ficicioglu C, Thomas N, Yager C et al (2008) Duarte (DG) galactosemia: a pilot study of biochemical and neurodevelopmental assessment in children detected by newborn screening. Mol Genet Metab 95:206–212

    Article  CAS  PubMed  Google Scholar 

  • Fridovich-Keil JL, Walter JH (2008) Galactosemia. In: Valle D, Beaudet A, Vogelstein B, Kinzler K, Antonarakis S, Ballabio A (eds) The online metabolic & molecular bases of inherited disease. McGraw Hill, New York, http://www.ommbid.com/

  • Powell KK, Van Naarden Braun K, Singh RH, Shapira SK, Olney RS, Yeargin-Allsopp M (2009) Long-term speech and language developmental issues among children with Duarte galactosemia. Genet Med 11:874–879

    Article  PubMed  Google Scholar 

  • Pyhtila B et al (2014) Newborn screening for galactosemia in the United States: looking back, looking around, and looking ahead. J Inher Metab Disease Reports (in press)

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Correspondence to Judith L. Fridovich-Keil.

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Communicated by: Bridget Wilcken

This study was approved by both the Emory University Institutional Review Board (IRB# 00024933, PI: Fridovich-Keil) and the Georgia Department of Public Health Institutional Review Board (GA PDH IRB# 130306, PI: Fridovich-Keil). Data accessed from the Emory Genetics Lab MEDGIS database were ascertained through a HIPAA waiver granted by the Emory IRB (under IRB# 00024933).

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Pyhtila, B.M., Shaw, K.A., Neumann, S.E. et al. A brief overview of galactosemia newborn screening in the United States. J Inherit Metab Dis 37, 649–650 (2014). https://doi.org/10.1007/s10545-014-9694-7

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  • DOI: https://doi.org/10.1007/s10545-014-9694-7

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