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Journal Abstract Search

171 related items for PubMed ID: 8127076

  • 1. Diagnosis and prevention of lysosomal storage diseases in Russia.
    Krasnopolskaya KD, Mirenburg TV, Aronovich EL, Lebedeva TV, Odinokova ON, Demina NA, Kozlova VM, Kuznetsov MI.
    J Inherit Metab Dis; 1993; 16(6):994-1002. PubMed ID: 8127076
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  • 6. The frequency of lysosomal storage diseases in The Netherlands.
    Poorthuis BJ, Wevers RA, Kleijer WJ, Groener JE, de Jong JG, van Weely S, Niezen-Koning KE, van Diggelen OP.
    Hum Genet; 1999; 105(1-2):151-6. PubMed ID: 10480370
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  • 7. Newborn screening for lysosomal storage disorders.
    Meikle PJ, Grasby DJ, Dean CJ, Lang DL, Bockmann M, Whittle AM, Fietz MJ, Simonsen H, Fuller M, Brooks DA, Hopwood JJ.
    Mol Genet Metab; 2006 Aug; 88(4):307-14. PubMed ID: 16600651
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  • 8. [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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  • 9. Use of microtechniques for the detection of lysosomal enzyme disorders: Tay-Sachs disease, Gm1-gangliosidosis and Fabry disease.
    Bladon MT, Milunsky A.
    Clin Genet; 1978 Dec 02; 14(6):359-66. PubMed ID: 215359
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  • 10. Sphingolipidoses in Turkey.
    Ozkara HA, Topçu M.
    Brain Dev; 2004 Sep 02; 26(6):363-6. PubMed ID: 15275696
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  • 11. Prenatal Diagnosis of Lysosomal Storage Disorders Using Chorionic Villi.
    Verma J, Bijarnia-Mahay S, Verma IC.
    Methods Mol Biol; 2017 Sep 02; 1594():265-291. PubMed ID: 28456990
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  • 12. Inherited metabolic disorders: prenatal diagnosis of lysosomal storage disorders.
    Verma J, Thomas DC, Sharma S, Jhingan G, Saxena R, Kohli S, Puri RD, Bijarnia S, Verma IC.
    Prenat Diagn; 2015 Nov 02; 35(11):1137-47. PubMed ID: 26223439
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  • 14. [Prenatal diagnosis of hereditary lysosomal diseases].
    Mirenburg TV, Aronovich EL, Lebedeva TV, Akhunov VS, Krasnopol'skaia KD.
    Vopr Med Khim; 1988 Nov 02; 34(4):41-6. PubMed ID: 3143186
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  • 16. Enzymological diagnosis of a group of lysosomal storage diseases. Review of 5-year experience of 1600 patient-sample referrals.
    Pollard AC, Carey WF, Nelson PV, Poulos A, Hill GN.
    Med J Aust; 1980 Nov 15; 2(10):549-53. PubMed ID: 6780772
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  • 17. Early prenatal diagnosis of lysosomal storage disorders by enzymatic and molecular analysis.
    Li D, Lin Y, Huang Y, Zhang W, Jiang M, Li X, Zhao X, Sheng H, Yin X, Su X, Shao Y, Liu Z, Li D, Li F, Liao C, Liu L.
    Prenat Diagn; 2018 Sep 15; 38(10):779-787. PubMed ID: 29966168
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  • 18. Lipidoses detected in Poland through 1993.
    Czartoryska B, Tylki-Szymañska A, Górska D, Sawnor-Korszyñska D.
    Pediatr Neurol; 1994 Nov 15; 11(4):295-7. PubMed ID: 7702688
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  • 19. Lysosomal storage disorders in Thailand: the Siriraj experience.
    Wasant P, Wattanaweeradej S, Raksadawan N, Kolodny EH.
    Southeast Asian J Trop Med Public Health; 1995 Nov 15; 26 Suppl 1():54-8. PubMed ID: 8629143
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