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Journal Abstract Search

385 related items for PubMed ID: 15542394

  • 1. Determination of oligosaccharides and glycolipids in amniotic fluid by electrospray ionisation tandem mass spectrometry: in utero indicators of lysosomal storage diseases.
    Ramsay SL, Maire I, Bindloss C, Fuller M, Whitfield PD, Piraud M, Hopwood JJ, Meikle PJ.
    Mol Genet Metab; 2004 Nov; 83(3):231-8. PubMed ID: 15542394
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  • 2. Newborn screening for lysosomal storage disorders: clinical evaluation of a two-tier strategy.
    Meikle PJ, Ranieri E, Simonsen H, Rozaklis T, Ramsay SL, Whitfield PD, Fuller M, Christensen E, Skovby F, Hopwood JJ.
    Pediatrics; 2004 Oct; 114(4):909-16. PubMed ID: 15466084
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  • 3. Lysosomal storage diseases in non-immune hydrops fetalis pregnancies.
    Kooper AJ, Janssens PM, de Groot AN, Liebrand-van Sambeek ML, van den Berg CJ, Tan-Sindhunata GB, van den Berg PP, Bijlsma EK, Smits AP, Wevers RA.
    Clin Chim Acta; 2006 Sep; 371(1-2):176-82. PubMed ID: 16674934
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  • 6. Mass spectrometry in the study of lysosomal storage disorders.
    Meikle PJ, Fuller M, Hopwood JJ.
    Cell Mol Biol (Noisy-le-grand); 2003 Jul; 49(5):769-77. PubMed ID: 14528914
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  • 8. Hydrops fetalis: lysosomal storage disorders in extremis.
    Stone DL, Sidransky E.
    Adv Pediatr; 1999 Jul; 46():409-40. PubMed ID: 10645471
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  • 12. Correlation among genotype, phenotype, and biochemical markers in Gaucher disease: implications for the prediction of disease severity.
    Whitfield PD, Nelson P, Sharp PC, Bindloss CA, Dean C, Ravenscroft EM, Fong BA, Fietz MJ, Hopwood JJ, Meikle PJ.
    Mol Genet Metab; 2002 Jan; 75(1):46-55. PubMed ID: 11825063
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  • 14. [Fetal ascites as a manifestation of infantile sialidosis. Significance of a study of oligosaccharides in amniotic fluid].
    Guibaud P, Cottin X, Maire I, Boyer S, Guibaud S, Coicaud C, Bellon-Azzouzi C, Duvernois JP.
    J Genet Hum; 1985 Sep; 33(3-4):317-24. PubMed ID: 2414397
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  • 15. Prenatal diagnosis of methylmalonic aciduria by analysis of organic acids and total homocysteine in amniotic fluid.
    Zhang Y, Yang YL, Hasegawa Y, Yamaguchi S, Shi CY, Song JQ, Sayami S, Liu P, Yan R, Dong JH, Qin J.
    Chin Med J (Engl); 2008 Feb 05; 121(3):216-9. PubMed ID: 18298912
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  • 18. Newborn screening for lysosomal storage disorders.
    Meikle PJ, Ranieri E, Ravenscroft EM, Hua CT, Brooks DA, Hopwood JJ.
    Southeast Asian J Trop Med Public Health; 1999 Feb 05; 30 Suppl 2():104-10. PubMed ID: 11400743
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  • 19. A case of tyrosinaemia type I with normal level of succinylacetone in the amniotic fluid.
    Grenier A, Cederbaum S, Laberge C, Gagné R, Jakobs C, Tanguay RM.
    Prenat Diagn; 1996 Mar 05; 16(3):239-42. PubMed ID: 8710777
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