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Editorial
. 2018;22(3):221-224.
doi: 10.34763/devperiodmed.20182203.221224.

Galactosaemia - should it be screened in newborns?

Annet M Bosch  1
Affiliations
Editorial

Galactosaemia - should it be screened in newborns?

Annet M Bosch. Dev Period Med. 2018.
No abstract available

Keywords: newborn screening; classical galactosaemia; galactose-1-phosphate uridyltransferase deficiency.

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Conflict of interest statement

Conflicts of interest

Conflicts of interest/Konflikt interesu

I have received a speaker’s fee from Nutricia and have been a member of an advisory board for Biomarin. A.M.B

References

    1. Berry GT. Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A. Classic Galactosemia and Clinical Variant Galactosemia. Seattle (WA): University of Washington, Seattle; 2000. pp. 1993–2018. GeneReviews®. Feb 4 [updated 2017 Mar 9] - PubMed
    1. Beutler F, Baluda M. A simple spot screening test for galactosemia. J Lab Clin Med. 1966. pp. 137–141. - PubMed
    1. Clouds over galactosaemia.[No authors listed] Lancet. 1982;2(8312):1379–1380. Dec 18. - PubMed
    1. Kaufman FR, Kogut MD, Donnell GN, Goebelsmann U, March C, Koch R. Hypergonadotropic hypogonadism in female patients with galactosemia. N Engl J Med. 1981;304:994–998. - PubMed
    1. Schweitzer S, Shin Y, Jakobs C, Brodehl J. Long-term outcome in 134 patients with galactosaemia. Eur J Pediatr. 1993;152:36–43. - PubMed

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