521 related articles for article (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; 293(2):204-11. PubMed ID: 11399033
[TBL] [Abstract][Full Text] [Related]
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; 306(1):115-23. PubMed ID: 12069422
[TBL] [Abstract][Full Text] [Related]
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; 7(20):1768-76. PubMed ID: 11083499
[TBL] [Abstract][Full Text] [Related]
4. Quantitative evaluation of sphingomyelin and glucosylceramide using matrix-assisted laser desorption ionization time-of-flight mass spectrometry with sphingosylphosphorylcholine as an internal standard. Practical application to tissues from patients with Niemann-Pick disease types A and C, and Gaucher disease.
Fujiwaki T; Tasaka M; Yamaguchi S
J Chromatogr B Analyt Technol Biomed Life Sci; 2008 Jul; 870(2):170-6. PubMed ID: 18502707
[TBL] [Abstract][Full Text] [Related]
5. 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; 10(3):288-93. PubMed ID: 7670466
[TBL] [Abstract][Full Text] [Related]
6. Clinical and biochemical diagnostics of Niemann-Pick disease.
Maciejko D; Tylki-Szymańska A
Klin Padiatr; 1986; 198(2):103-6. PubMed ID: 3009958
[TBL] [Abstract][Full Text] [Related]
7. New tools for the study of Niemann-Pick disease: analogues of natural substrate and Epstein-Barr virus-transformed lymphoid cell lines.
Levade T; Salvayre R; Bes JC; Nezri M; Douste-Blazy L
Pediatr Res; 1985 Jan; 19(1):153-7. PubMed ID: 2982124
[TBL] [Abstract][Full Text] [Related]
8. Niemann-Pick disease type D: lipid analyses and studies on sphingomyelinases.
Rao BG; Spence MW
Ann Neurol; 1977 Apr; 1(4):385-92. PubMed ID: 31133
[TBL] [Abstract][Full Text] [Related]
9. Identification of novel biomarkers for Niemann-Pick disease using gene expression analysis of acid sphingomyelinase knockout mice.
Dhami R; Passini MA; Schuchman EH
Mol Ther; 2006 Mar; 13(3):556-64. PubMed ID: 16214420
[TBL] [Abstract][Full Text] [Related]
10. Acid sphingomyelinase: identification of nine novel mutations among Italian Niemann Pick type B patients and characterization of in vivo functional in-frame start codon.
Pittis MG; Ricci V; Guerci VI; Marçais C; Ciana G; Dardis A; Gerin F; Stroppiano M; Vanier MT; Filocamo M; Bembi B
Hum Mutat; 2004 Aug; 24(2):186-7. PubMed ID: 15241805
[TBL] [Abstract][Full Text] [Related]
11. Acid sphingomyelinase, cell membranes and human disease: lessons from Niemann-Pick disease.
Schuchman EH
FEBS Lett; 2010 May; 584(9):1895-900. PubMed ID: 19944693
[TBL] [Abstract][Full Text] [Related]
12. Niemann-Pick disease: prenatal diagnoses and studies of sphingomyelinase activities.
Wenger DA; Wharton C; Sattler M; Clark C
Am J Med Genet; 1978; 2(4):345-56. PubMed ID: 233699
[TBL] [Abstract][Full Text] [Related]
13. Lymphocyte enzymes in the detection of Niemann-Pick Carriers.
Hardy B; Hoffman J; Neri A
Biomed Pharmacother; 1982; 36(8-9):372-5. PubMed ID: 7182017
[TBL] [Abstract][Full Text] [Related]
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; 293(13):632-6. PubMed ID: 239343
[TBL] [Abstract][Full Text] [Related]
15. Simultaneous quantitative analysis of ceramide and sphingosine in mouse blood by naphthalene-2,3-dicarboxyaldehyde derivatization after hydrolysis with ceramidase.
He X; Dagan A; Gatt S; Schuchman EH
Anal Biochem; 2005 May; 340(1):113-22. PubMed ID: 15802137
[TBL] [Abstract][Full Text] [Related]
16. AAV8-mediated hepatic expression of acid sphingomyelinase corrects the metabolic defect in the visceral organs of a mouse model of Niemann-Pick disease.
Barbon CM; Ziegler RJ; Li C; Armentano D; Cherry M; Desnick RJ; Schuchman EH; Cheng SH
Mol Ther; 2005 Sep; 12(3):431-40. PubMed ID: 16099409
[TBL] [Abstract][Full Text] [Related]
17. Sphingomyelin storage in a patient with myoclonus epilepsy as a main clinical symptom -- a varient in Niemann-Pick disease type C.
Kunishita T; Taketomi T
Jpn J Exp Med; 1979 Apr; 49(2):151-6. PubMed ID: 113605
[TBL] [Abstract][Full Text] [Related]
18. A fluorescence-based, high-performance liquid chromatographic assay to determine acid sphingomyelinase activity and diagnose types A and B Niemann-Pick disease.
He X; Chen F; Dagan A; Gatt S; Schuchman EH
Anal Biochem; 2003 Mar; 314(1):116-20. PubMed ID: 12633609
[TBL] [Abstract][Full Text] [Related]
19. Accurate differentiation of neuronopathic and nonneuronopathic forms of Niemann-Pick disease by evaluation of the effective residual lysosomal sphingomyelinase activity in intact cells.
Graber D; Salvayre R; Levade T
J Neurochem; 1994 Sep; 63(3):1060-8. PubMed ID: 8051547
[TBL] [Abstract][Full Text] [Related]
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; 14(13):1988-95. PubMed ID: 11023983
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
