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Journal Abstract Search

135 related items for PubMed ID: 9476383

  • 1. [Mucolipidosis II (I cell disease). First case report in the Czech Republic and prenatal diagnosis in a family].
    Elleder M, Poupĕtová H, Zeman J, Hrebícek M, Ledvinová J, Baxová A, Podhola M.
    Cas Lek Cesk; 1997 Nov 19; 136(22):702-6. PubMed ID: 9476383
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  • 2. [Prenatal diagnosis of lysosomal enzymopathies in the Czech Republic].
    Poupetová H, Ledvinová J, Chudoba D, Hrebícek M, Kozich V, Macek M, Elleder M.
    Cas Lek Cesk; 2000 Aug 02; 139(15):468-74. PubMed ID: 22666927
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  • 3. Prenatal diagnosis of mucolipidosis II--electron microscopy and biochemical evaluation.
    Carey WF, Jaunzems A, Richardson M, Fong BA, Chin SJ, Nelson PV.
    Prenat Diagn; 1999 Mar 02; 19(3):252-6. PubMed ID: 10210124
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  • 4. Mucolipidosis III type C: first-trimester biochemical and molecular prenatal diagnosis.
    Falik-Zaccai TC, Zeigler M, Bargal R, Bach G, Borochowitz Z, Raas-Rothschild A.
    Prenat Diagn; 2003 Mar 02; 23(3):211-4. PubMed ID: 12627421
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  • 5. Prenatal diagnosis of heterozygosis in a pregnancy at risk for Wolman's disease at the 8th week of gestation.
    Bona G, Gallina MR, Dolfin G, Iavarone A, Perona A, Zaffaroni M.
    Panminerva Med; 1989 Mar 02; 31(4):180-2. PubMed ID: 2633108
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  • 6. [Mucolipidoses type II. Case report].
    Aracena M, Mabe P, Mena M, Andreani S, Daza C.
    Rev Med Chil; 2003 Mar 02; 131(3):314-9. PubMed ID: 12790082
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  • 7. [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 02; 33(3-4):317-24. PubMed ID: 2414397
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  • 9. [Mucolipidosis type III (case report)].
    Ligutić I, Barisić I, Fumić K, Sabados M.
    Lijec Vjesn; 1996 Sep 02; 118(1-2):17-20. PubMed ID: 8759415
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  • 10. Prenatal diagnosis of I-cell disease in the first and second trimesters.
    Parvathy MR, Mitchell DA, Ben-Yoseph Y.
    Am J Med Sci; 1989 Jun 02; 297(6):361-4. PubMed ID: 2544090
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  • 11. Mucolipidosis IV: ultrastructural diagnosis of a recently defined genetic disorder.
    Livni N, Merin S.
    Arch Pathol Lab Med; 1978 Nov 02; 102(11):600-4. PubMed ID: 581454
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  • 14. Clinical, biochemical and molecular characterization of Korean patients with mucolipidosis II/III and successful prenatal diagnosis.
    Yang M, Cho SY, Park HD, Choi R, Kim YE, Kim J, Lee SY, Ki CS, Kim JW, Sohn YB, Song J, Jin DK.
    Orphanet J Rare Dis; 2017 Jan 17; 12(1):11. PubMed ID: 28095893
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  • 15. [The first case of leukocyte integrin deficiency syndrome in the Czech Republic and successful prenatal diagnosis in the affected family].
    Král V, Bartůnková J, Svorc K, Calda P, Jílek D, Kobylka P, Starý J.
    Cas Lek Cesk; 1996 Mar 06; 135(5):154-8. PubMed ID: 8681357
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  • 16. [Prenatal diagnosis of Hunter's disease].
    Bolodár A, Török O, Horváth K, Németi M, Szabó M, Papp Z.
    Orv Hetil; 1990 May 13; 131(19):1025-7. PubMed ID: 2111903
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  • 17. 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 13; 83(3):231-8. PubMed ID: 15542394
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  • 20. First trimester prenatal evaluation for I-cell disease by N-acetyl-glucosamine 1-phosphotransferase assay.
    Ben-Yoseph Y, Mitchell DA, Nadler HL.
    Clin Genet; 1988 Jan 13; 33(1):38-43. PubMed ID: 2830069
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