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Volumn 55, Issue 2, 2014, Pages 338-343

Determination of 7-ketocholesterol in plasma by lc-ms for rapid diagnosis of acid smase-deficient niemann-pick disease

Author keywords

Genetics; Mass spectrometry; Oxysterols; Storage diseases

Indexed keywords

GENETICS; MASS SPECTROMETRY; OXYSTEROLS; STORAGE DISEASES;

EID: 84893352301     PISSN: 00222275     EISSN: 15397262     Source Type: Journal    
DOI: 10.1194/jlr.D044024     Document Type: Article
Times cited : (49)

References (30)
  • 1
    • 35248814255 scopus 로고    scopus 로고
    • The pathogenesis and treatment of acid sphingomyelinase-deficient niemann-pick disease
    • Schuchman, E. H. 2007.The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease. J. Inherit. Metab. Dis. 30 : 654-663.
    • (2007) J. Inherit. Metab. Dis , vol.30 , pp. 654-663
    • Schuchman, E.H.1
  • 3
    • 84877128630 scopus 로고    scopus 로고
    • Seattle, WA. Accessed November 6, at
    • R. A. Pagon, M.P. Adam, T. D. Bird, et al., editors. University of Washington, Seattle, WA. Accessed November 6, 2012, at http://www.ncbi.nlm.nih. gov/ books/NBK1370/.
    • (2012) University of Washington
    • Pagon, R.A.1    Adam, M.P.2    Bird, T.D.3
  • 4
    • 0033585476 scopus 로고    scopus 로고
    • Prevalence of lysosomal storage disorders
    • Meikle, P. J., J. J. Hopwood, A. E. Clague, and W. F. Carey.1999.Prevalence of lysosomal storage disorders. JAMA.281 : 249-254.
    • (1999) JAMA , vol.281 , pp. 249-254
    • Meikle, P.J.1    Hopwood, J.J.2    Clague, A.E.3    Carey, W.F.4
  • 5
    • 33644921804 scopus 로고    scopus 로고
    • Natural history of type a niemann-pick disease, possible endpoints for therapeutic trials
    • McGovern, M. M., A. Aron, S. E. Brodie, R. J. Desnick, and M. P. Wasserstein.2006.Natural history of type A Niemann-Pick disease, possible endpoints for therapeutic trials. Neurology.66 : 228-232.
    • (2006) Neurology , vol.66 , pp. 228-232
    • McGovern, M.M.1    Aron, A.2    Brodie, S.E.3    Desnick, R.J.4    Wasserstein, M.P.5
  • 8
    • 21144457361 scopus 로고    scopus 로고
    • Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twentyfive czech and slovak patients. A multi-Approach study
    • Pavlu-Pereira, H., B. Asfaw, H. Poupctová, J. Ledvinová, J. Sikora, M. T. Vanier, K. Sandhoff, J. Zeman, Z. Novotná, D. Chudoba, et al.2005.Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twentyfive Czech and Slovak patients. A multi-Approach study. J. Inherit. Metab. Dis. 28 : 203-227.
    • (2005) J. Inherit. Metab. Dis , vol.28 , pp. 203-227
    • Pavlu-Pereira, H.1    Asfaw, B.2    Poupctová, H.3    Ledvinová, J.4    Sikora, J.5    Vanier, M.T.6    Sandhoff, K.7    Zeman, J.8    Novotná, Z.9    Chudoba, D.10
  • 9
    • 33748984649 scopus 로고    scopus 로고
    • Acid sphingomyelinase deficiency: Prevalence and characterization of an intermediate phenotype of niemann-pick disease
    • Wasserstein, M. P., A. Aron, S. E. Brodie, C. Simonaro, R. J. Desnick, and M. M. McGovern.2006.Acid sphingomyelinase deficiency: prevalence and characterization of an intermediate phenotype of Niemann-Pick disease. J. Pediatr. 149 : 554-559.
    • (2006) J. Pediatr , vol.149 , pp. 554-559
    • Wasserstein, M.P.1    Aron, A.2    Brodie, S.E.3    Simonaro, C.4    Desnick, R.J.5    McGovern, M.M.6
  • 10
    • 67649652050 scopus 로고    scopus 로고
    • Identification and characterization of smpd1 mutations causing niemann-pick types a and b in spanish patients
    • Rodríguez-Pascau, L., L. Gort, E. H. Schuchman, L. Vilageliu, D. Grinberg, and A. Chabás.2009.Identification and characterization of SMPD1 mutations causing Niemann-Pick types A and B in Spanish patients. Hum. Mutat. 30 : 1117-1122.
    • (2009) Hum. Mutat , vol.30 , pp. 1117-1122
    • Rodríguez-Pascau, L.1    Gort, L.2    Schuchman, E.H.3    Vilageliu, L.4    Grinberg, D.5    Chabás, A.6
  • 11
    • 77954279039 scopus 로고    scopus 로고
    • Identification and characterization of eight novel smpd1 mutations causing types a and b niemann-pick disease
    • Desnick, J. P., J. Kim, X. He, M. P. Wasserstein, C. M. Simonaro, and E. H. Schuchman.2010.Identification and characterization of eight novel SMPD1 mutations causing types A and B Niemann-Pick disease. Mol. Med. 16 : 316-321.
    • (2010) Mol. Med , vol.16 , pp. 316-321
    • Desnick, J.P.1    Kim, J.2    He, X.3    Wasserstein, M.P.4    Simonaro, C.M.5    Schuchman, E.H.6
  • 12
    • 6044238051 scopus 로고    scopus 로고
    • 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, M. G., V. Ricci, V. I. Guerci, C. Marçais, G. Ciana, A. Dardis, F. Gerin, M. Stroppiano, M. T. Vanier, M. Filocamo, et al.2004.Acid sphingomyelinase: identification of nine novel mutations among Italian Niemann Pick type B patients and characterization of in vivo functional in-frame start codon. Hum. Mutat. 24 : 186-187.
    • (2004) Hum. Mutat , Issue.24 , pp. 186-187
    • Pittis, M.G.1    Ricci, V.2    Guerci, V.I.3    Marçais, C.4    Ciana, G.5    Dardis, A.6    Gerin, F.7    Stroppiano, M.8    Vanier, M.T.9    Filocamo, M.10
  • 13
    • 84872789314 scopus 로고    scopus 로고
    • Identification of a distinct mutation spectrum in the smpd1 gene of chinese patients with acid sphingomyelinase-defi-cient niemann-pick disease
    • Zhang, H., Y. Wang, Z. Gong, X. Li, W. Qiu, L. Han, J. Ye, and X. Gu.2013.Identification of a distinct mutation spectrum in the SMPD1 gene of Chinese patients with acid sphingomyelinase-defi-cient Niemann-Pick disease. Orphanet J. Rare Dis. 8 : 15.
    • (2013) Orphanet J. Rare Dis , Issue.8 , pp. 15
    • Zhang, H.1    Wang, Y.2    Gong, Z.3    Li, X.4    Qiu, W.5    Han, L.6    Ye, J.7    Gu, X.8
  • 14
    • 35648941563 scopus 로고    scopus 로고
    • Correction of enzyme levels with allogeneic hematopoeitic progenitor cell transplantation in niemann-pick type b
    • Schneiderman, J., K. Thormann, J. Charrow, and M. Kletzel.2007.Correction of enzyme levels with allogeneic hematopoeitic progenitor cell transplantation in Niemann-Pick type B. Pediatr. Blood Cancer.49 : 987-989.
    • (2007) Pediatr. Blood Cancer , vol.49 , pp. 987-989
    • Schneiderman, J.1    Thormann, K.2    Charrow, J.3    Kletzel, M.4
  • 15
    • 33644679397 scopus 로고    scopus 로고
    • Successful hematopoietic stem cell transplantation for niemann-pick disease type b
    • Shah, A. J., N. Kapoor, G. M. Crooks, R. Parkman, K. I. Weinberg, and K. Wilson.2005.Successful hematopoietic stem cell transplantation for Niemann-Pick disease type B. Pediatrics.116 : 1022-1025.
    • (2005) Pediatrics , vol.116 , pp. 1022-1025
    • Shah, A.J.1    Kapoor, N.2    Crooks, G.M.3    Parkman, R.4    Weinberg, K.I.5    Wilson, K.6
  • 16
    • 0033810516 scopus 로고    scopus 로고
    • Infusion of recombinant human acid sphingomyelinase into niemann-pick disease mice leads to visceral, but not neurological, correction of the pathophysiology
    • Miranda, S. R., X. He, C. M. Simonaro, S. Gatt, A. Dagan, R. J. Desnick, and E. H. Schuchman.2000.Infusion of recombinant human acid sphingomyelinase into Niemann-Pick disease mice leads to visceral, but not neurological, correction of the pathophysiology. FASEB J. 14 : 1988-1995.
    • (2000) FASEB J. , vol.14 , pp. 1988-1995
    • Miranda, S.R.1    He, X.2    Simonaro, C.M.3    Gatt, S.4    Dagan, A.5    Desnick, R.J.6    Schuchman, E.H.7
  • 18
    • 84872479464 scopus 로고    scopus 로고
    • Enzyme replacement therapy for lysosomal diseases: Lessons from 20 years of experience and remaining challenges
    • Desnick, R. J., and E. H. Schuchman.2012.Enzyme replacement therapy for lysosomal diseases: lessons from 20 years of experience and remaining challenges. Annu. Rev. Genomics Hum. Genet. 13 : 307-335.
    • (2012) Annu. Rev. Genomics Hum. Genet , vol.13 , pp. 307-335
    • Desnick, R.J.1    Schuchman, E.H.2
  • 22
    • 0027946678 scopus 로고
    • Analysis of plasma cholesterol oxidation products using gas-And high-performance liquid chromatography/mass spectrometry
    • Sevanian, A., R. Seraglia, P. Traldi, P. Rossato, F. Ursini, and H. Hodis.1994.Analysis of plasma cholesterol oxidation products using gas-And high-performance liquid chromatography/mass spectrometry. Free Radic. Biol. Med. 17 : 397-409.
    • (1994) Free Radic. Biol. Med , vol.17 , pp. 397-409
    • Sevanian, A.1    Seraglia, R.2    Traldi, P.3    Rossato, P.4    Ursini, F.5    Hodis, H.6
  • 23
    • 0028816863 scopus 로고
    • Determination of cholesterol oxidation products in human plasma by isotope dilution-mass spectrometry
    • Dzeletovic, S., O. Breuer, E. Lund, and U. Diczfalusy.1995.Determination of cholesterol oxidation products in human plasma by isotope dilution-mass spectrometry. Anal. Biochem. 225 : 73-80.
    • (1995) Anal. Biochem , vol.225 , pp. 73-80
    • Dzeletovic, S.1    Breuer, O.2    Lund, E.3    Diczfalusy, U.4
  • 24
    • 33846228374 scopus 로고    scopus 로고
    • Characterization of oxysterols by electrospray ionization tandem mass spectrometry after one-step derivatization with dimethylglycine
    • Jiang, X., D. S. Ory, and X. Han.2007.Characterization of oxysterols by electrospray ionization tandem mass spectrometry after one-step derivatization with dimethylglycine. Rapid Commun. Mass Spectrom. 21 : 141-152.
    • (2007) Rapid Commun. Mass Spectrom , vol.21 , pp. 141-152
    • Jiang, X.1    Ory, D.S.2    Han, X.3
  • 25
    • 33846889319 scopus 로고    scopus 로고
    • Highly sensitive quantification of 7a-hydroxy-4-cholesten-3-one in human serum by lc-esi-ms/ms
    • Honda, A., K. Yamashita, M. Numazawa, T. Ikegami, M. Doy, and Y. Matsuzaki.2007.Highly sensitive quantification of 7a-hydroxy-4-cholesten-3-one in human serum by LC-ESI-MS/MS. J. Lipid Res. 48 : 458-464.
    • (2007) J. Lipid Res , vol.48 , pp. 458-464
    • Honda, A.1    Yamashita, K.2    Numazawa, M.3    Ikegami, T.4    Doy, M.5    Matsuzaki, Y.6
  • 27
    • 65249173106 scopus 로고    scopus 로고
    • Derivatization reagents in liquid chromatography/electrospray ionization tandem mass spectrometry for biomedical analysis
    • Santa, T., O. Y. Al-Dirbashi, and T. Fukushima.2007.Derivatization reagents in liquid chromatography/electrospray ionization tandem mass spectrometry for biomedical analysis. Drug Discov. Ther. 1 : 108-118.
    • (2007) Drug Discov. Ther , vol.1 , pp. 108-118
    • Santa, T.1    Al-Dirbashi, O.Y.2    Fukushima, T.3
  • 29
    • 0031770206 scopus 로고    scopus 로고
    • Cholesterol and oxygenated cholesterol concentrations are markedly elevated in peripheral tissue but not in brain from mice with the niemann-pick type c phenotype
    • Tint, G. S., P. Pentchev, G. Xu, A. K. Batta, S. Shefer, G. Salen, and A. Honda.1998.Cholesterol and oxygenated cholesterol concentrations are markedly elevated in peripheral tissue but not in brain from mice with the Niemann-Pick type C phenotype. J. Inherit. Metab. Dis. 21 : 853-863.
    • (1998) J. Inherit. Metab. Dis , vol.21 , pp. 853-863
    • Tint, G.S.1    Pentchev, P.2    Xu, G.3    Batta, A.K.4    Shefer, S.5    Salen, G.6    Honda, A.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.