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515 related items for PubMed ID: 11399033

  • 1. An enzymatic assay for quantifying sphingomyelin in tissues and plasma from humans and mice with Niemann-Pick disease.
    He X, Chen F, Gatt S, Schuchman EH.
    Anal Biochem; 2001 Jun 15; 293(2):204-11. PubMed ID: 11399033
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  • 2. A fluorescence-based, high-throughput sphingomyelin assay for the analysis of Niemann-Pick disease and other disorders of sphingomyelin metabolism.
    He X, Chen F, McGovern MM, Schuchman EH.
    Anal Biochem; 2002 Jul 01; 306(1):115-23. PubMed ID: 12069422
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  • 3. Hematopoietic stem cell gene therapy leads to marked visceral organ improvements and a delayed onset of neurological abnormalities in the acid sphingomyelinase deficient mouse model of Niemann-Pick disease.
    Miranda SR, Erlich S, Friedrich VL, Gatt S, Schuchman EH.
    Gene Ther; 2000 Oct 01; 7(20):1768-76. PubMed ID: 11083499
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  • 12. Niemann-Pick disease: prenatal diagnoses and studies of sphingomyelinase activities.
    Wenger DA, Wharton C, Sattler M, Clark C.
    Am J Med Genet; 1978 Oct 01; 2(4):345-56. PubMed ID: 233699
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  • 14. A practical chromogenic procedure for the detection of homozygotes and heterozygous carriers of Niemann-Pick disease.
    Gal AE, Brady RO, Hibbert SR, Pentchev PG.
    N Engl J Med; 1975 Sep 25; 293(13):632-6. PubMed ID: 239343
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  • 20. Infusion of recombinant human acid sphingomyelinase into niemann-pick disease mice leads to visceral, but not neurological, correction of the pathophysiology.
    Miranda SR, He X, Simonaro CM, Gatt S, Dagan A, Desnick RJ, Schuchman EH.
    FASEB J; 2000 Oct 25; 14(13):1988-95. PubMed ID: 11023983
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