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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

510 related items for PubMed ID: 11702224

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  • 2. Sialidosis presenting as severe nonimmune fetal hydrops is associated with two novel mutations in lysosomal alpha-neuraminidase.
    Loren DJ, Campos Y, d'Azzo A, Wyble L, Grange DK, Gilbert-Barness E, White FV, Hamvas A.
    J Perinatol; 2005 Jul; 25(7):491-4. PubMed ID: 15908988
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  • 4. Five novel mutations in the lysosomal sialidase gene (NEU1) in type II sialidosis patients and assessment of their impact on enzyme activity and intracellular targeting using adenovirus-mediated expression.
    Pattison S, Pankarican M, Rupar CA, Graham FL, Igdoura SA.
    Hum Mutat; 2004 Jan; 23(1):32-9. PubMed ID: 14695530
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  • 6. Homozygosity for a severe novel medium-chain acyl-CoA dehydrogenase (MCAD) mutation IVS3-1G > C that leads to introduction of a premature termination codon by complete missplicing of the MCAD mRNA and is associated with phenotypic diversity ranging from sudden neonatal death to asymptomatic status.
    Korman SH, Gutman A, Brooks R, Sinnathamby T, Gregersen N, Andresen BS.
    Mol Genet Metab; 2004 Jun; 82(2):121-9. PubMed ID: 15171999
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  • 7. Splice donor site mutation in the lysosomal neuraminidase gene causing exon skipping and complete loss of enzyme activity in a sialidosis patient.
    Penzel R, Uhl J, Kopitz J, Beck M, Otto HF, Cantz M.
    FEBS Lett; 2001 Jul 20; 501(2-3):135-8. PubMed ID: 11470272
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  • 10. First prenatal molecular diagnosis in a family with holocarboxylase synthetase deficiency.
    Malvagia S, Morrone A, Pasquini E, Funghini S, la Marca G, Zammarchi E, Donati MA.
    Prenat Diagn; 2005 Dec 20; 25(12):1117-9. PubMed ID: 16231399
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  • 13. A homozygous frameshift mutation in the ESCO2 gene: evidence of intertissue and interindividual variation in Nmd efficiency.
    Resta N, Susca FC, Di Giacomo MC, Stella A, Bukvic N, Bagnulo R, Simone C, Guanti G.
    J Cell Physiol; 2006 Oct 20; 209(1):67-73. PubMed ID: 16775838
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  • 17. A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiency.
    Odièvre MH, Chretien D, Munnich A, Robinson BH, Dumoulin R, Masmoudi S, Kadhom N, Rötig A, Rustin P, Bonnefont JP.
    Hum Mutat; 2005 Mar 20; 25(3):323-4. PubMed ID: 15712224
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  • 18. Carnitine/acylcarnitine translocase deficiency (neonatal phenotype): successful prenatal and postmortem diagnosis associated with a novel mutation in a single family.
    Yang BZ, Mallory JM, Roe DS, Brivet M, Strobel GD, Jones KM, Ding JH, Roe CR.
    Mol Genet Metab; 2001 May 20; 73(1):64-70. PubMed ID: 11350184
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  • 19. Alport syndrome. Molecular genetic aspects.
    Hertz JM.
    Dan Med Bull; 2009 Aug 20; 56(3):105-52. PubMed ID: 19728970
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