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Journal Abstract Search

408 related items for PubMed ID: 12124701

  • 1. Prenatal diagnosis of Niemann-Pick diseases types A, B and C.
    Vanier MT.
    Prenat Diagn; 2002 Jul; 22(7):630-2. PubMed ID: 12124701
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  • 2. Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1.
    Park WD, O'Brien JF, Lundquist PA, Kraft DL, Vockley CW, Karnes PS, Patterson MC, Snow K.
    Hum Mutat; 2003 Oct; 22(4):313-25. PubMed ID: 12955717
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  • 4. Niemann-Pick C disease: use of denaturing high performance liquid chromatography for the detection of NPC1 and NPC2 genetic variations and impact on management of patients and families.
    Millat G, Baïlo N, Molinero S, Rodriguez C, Chikh K, Vanier MT.
    Mol Genet Metab; 2005 Oct; 86(1-2):220-32. PubMed ID: 16126423
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  • 8. Adenovirus expressing an NPC1-GFP fusion gene corrects neuronal and nonneuronal defects associated with Niemann pick type C disease.
    Paul CA, Reid PC, Boegle AK, Karten B, Zhang M, Jiang ZG, Franz D, Lin L, Chang TY, Vance JE, Blanchette-Mackie J, Maue RA.
    J Neurosci Res; 2005 Sep 01; 81(5):706-19. PubMed ID: 16015597
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  • 11. Lipid imbalance in the neurological disorder, Niemann-Pick C disease.
    Vance JE.
    FEBS Lett; 2006 Oct 09; 580(23):5518-24. PubMed ID: 16797010
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  • 12. [Type C Niemann-Pick disease in 2 siblings. Biochemical bases of its diagnosis].
    Pámpols T, Pineda M, Ferreter M, Fernández E.
    An Esp Pediatr; 1986 Apr 09; 24(4):250-6. PubMed ID: 3014938
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  • 14. Acid sphingomyelinase deficient mice: a model of types A and B Niemann-Pick disease.
    Horinouchi K, Erlich S, Perl DP, Ferlinz K, Bisgaier CL, Sandhoff K, Desnick RJ, Stewart CL, Schuchman EH.
    Nat Genet; 1995 Jul 09; 10(3):288-93. PubMed ID: 7670466
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  • 15. Niemann-Pick C disease: functional characterization of three NPC2 mutations and clinical and molecular update on patients with NPC2.
    Verot L, Chikh K, Freydière E, Honoré R, Vanier MT, Millat G.
    Clin Genet; 2007 Apr 09; 71(4):320-30. PubMed ID: 17470133
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  • 17. Niemann-Pick disease in association with homozygous hemoglobin E: a case report.
    Tanphaichitr VS, Suvatte V, Tuchinda S, Mahasandana C, Wenger DA.
    Southeast Asian J Trop Med Public Health; 1979 Dec 09; 10(4):562-7. PubMed ID: 538505
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  • 18. Identification of 25 new mutations in 40 unrelated Spanish Niemann-Pick type C patients: genotype-phenotype correlations.
    Fernandez-Valero EM, Ballart A, Iturriaga C, Lluch M, Macias J, Vanier MT, Pineda M, Coll MJ.
    Clin Genet; 2005 Sep 09; 68(3):245-54. PubMed ID: 16098014
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  • 20. Diagnosis of Niemann-Pick disease by analysis of hair-roots.
    Mazière JC, Mazière C, Hosli P, Polonovski J.
    Biomedicine; 1979 Jul 09; 31(4):104-6. PubMed ID: 226194
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