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Journal Abstract Search

138 related items for PubMed ID: 10876013

  • 1. Congenital biliary atresia detected as a result of galactosemia screening by the Beutler method.
    Sakura N, Mizoguchi N, Ono H, Yamaoka H, Hamakawa M.
    Clin Chim Acta; 2000 Aug; 298(1-2):175-9. PubMed ID: 10876013
    [No Abstract] [Full Text] [Related]

  • 2. Quantitative Beutler test for newborn mass screening of galactosemia using a fluorometric microplate reader.
    Fujimoto A, Okano Y, Miyagi T, Isshiki G, Oura T.
    Clin Chem; 2000 Jun; 46(6 Pt 1):806-10. PubMed ID: 10839768
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  • 6. Florida newborn screening for galactosemia.
    DeClue TJ, Malone JI, Tedesco TA.
    J Fla Med Assoc; 1991 Jun; 78(6):369-71. PubMed ID: 1831492
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  • 7. Newborn screening for galactosemia: ultramicro assay for galactose-1-phosphate-uridyltransferase activity.
    Rhode H, Elei E, Taube I, Podskarbi T, Horn A.
    Clin Chim Acta; 1998 Jun 08; 274(1):71-87. PubMed ID: 9681599
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  • 8. Multiplex tandem mass spectrometry assay for newborn screening of X-linked adrenoleukodystrophy, biotinidase deficiency, and galactosemia with flexibility to assay other enzyme assays and biomarkers.
    Hong X, Kumar AB, Ronald Scott C, Gelb MH.
    Mol Genet Metab; 2018 Jun 08; 124(2):101-108. PubMed ID: 29680633
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  • 9. Starch gel electrophoresis for galactose-1-phosphate uridylyl-transferase applied to dried filter paper blood specimens.
    Hammersen G, Levy HL.
    Clin Chim Acta; 1977 Jun 15; 77(3):295-9. PubMed ID: 872429
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  • 10. Classical galactosemia in Estonia: selective neonatal screening, incidence, and genotype/phenotype data of diagnosed patients.
    Ounap K, Joost K, Temberg T, Krabbi K, Tõnisson N.
    J Inherit Metab Dis; 2010 Apr 15; 33(2):175-6. PubMed ID: 20151200
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  • 11. False-normal assays for galactosemia in a neonate with cataracts.
    Weinberg DA, Simon JW, Cowger ML.
    Am J Ophthalmol; 1985 Aug 15; 100(2):342-3. PubMed ID: 4025481
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  • 12. Screening for biliary atresia: it's in the cards.
    Schreiber RA, Butler A.
    Can Fam Physician; 2017 Jun 15; 63(6):424-425. PubMed ID: 28615387
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  • 14. Rare cases of galactose metabolic disorders: identification of more than two mutations per patient.
    Schulpis KH, Thodi G, Chatzidaki M, Iakovou K, Molou E, Dotsikas Y, Loukas YL.
    J Pediatr Endocrinol Metab; 2017 Oct 26; 30(10):1119-1120. PubMed ID: 28902631
    [No Abstract] [Full Text] [Related]

  • 15. [Galactosemia].
    Ohtake A, Amemiya S.
    Nihon Rinsho; 2006 Sep 28; Suppl 3():215-9. PubMed ID: 17022534
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  • 18. Nine years of newborn screening for classical galactosemia in the Netherlands: Effectiveness of screening methods, and identification of patients with previously unreported phenotypes.
    Welling L, Boelen A, Derks TG, Schielen PC, de Vries M, Williams M, Wijburg FA, Bosch AM.
    Mol Genet Metab; 2017 Mar 28; 120(3):223-228. PubMed ID: 28065439
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  • 19. Newborn Bilirubin Screening for Biliary Atresia.
    Harpavat S, Garcia-Prats JA, Shneider BL.
    N Engl J Med; 2016 Aug 11; 375(6):605-6. PubMed ID: 27509119
    [No Abstract] [Full Text] [Related]

  • 20. The use of a radioisotopic method for estimation of galactose-1-phosphate in galactosemia.
    Bozkowa K, Duchnowska A.
    Biochem Med; 1977 Feb 11; 17(1):24-30. PubMed ID: 843340
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