메뉴 건너뛰기




Volumn 9, Issue 12, 2014, Pages

Plasma lysosphingomyelin demonstrates great potential as a diagnostic biomarker for niemann-pick disease type C in a retrospective study

Author keywords

[No Author keywords available]

Indexed keywords

GLUCOSYLSPHINGOSINE; PSYCHOSINE; SPHINGOLIPID; SPHINGOSYLPHOSPHORYLCHOLINE; UNCLASSIFIED DRUG; BIOLOGICAL MARKER; EDETIC ACID; HEPARIN; PHOSPHORYLCHOLINE; SPHINGOSINE; SPHINGOSINE PHOSPHORYLCHOLINE; SPHINGOSYL BETA-GLUCOSIDE;

EID: 84917705678     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0114669     Document Type: Article
Times cited : (79)

References (32)
  • 1
    • 77953019480 scopus 로고    scopus 로고
    • Niemann-Pick disease type C
    • Vanier MT (2010) Niemann-Pick disease type C. Orphanet J Rare Dis 5: 16.
    • (2010) Orphanet J Rare Dis , vol.5 , pp. 16
    • Vanier, M.T.1
  • 3
    • 85009083396 scopus 로고    scopus 로고
    • Disease and patient characteristics in NP-C patients: Findings from an international disease registry
    • Patterson MC, Mengel E, Wijburg FA, Muller A, Schwierin B, et al. (2013) Disease and patient characteristics in NP-C patients: findings from an international disease registry. Orphanet J Rare Dis 8: 12.
    • (2013) Orphanet J Rare Dis , vol.8 , pp. 12
    • Patterson, M.C.1    Mengel, E.2    Wijburg, F.A.3    Muller, A.4    Schwierin, B.5
  • 4
    • 84885830296 scopus 로고    scopus 로고
    • Genetic screening for Niemann-Pick disease type C in adults with neurological and psychiatric symptoms: Findings from the ZOOM study
    • Bauer P, Balding DJ, Klunemann HH, Linden DE, Ory DS, et al. (2013) Genetic screening for Niemann-Pick disease type C in adults with neurological and psychiatric symptoms: findings from the ZOOM study. Hum Mol Genet 22: 4349-4356.
    • (2013) Hum Mol Genet , vol.22 , pp. 4349-4356
    • Bauer, P.1    Balding, D.J.2    Klunemann, H.H.3    Linden, D.E.4    Ory, D.S.5
  • 5
    • 84863594896 scopus 로고    scopus 로고
    • Development of a suspicion index to aid diagnosis of Niemann-Pick disease type C
    • Wijburg FA, Sedel F, Pineda M, Hendriksz CJ, Fahey M, et al. (2012) Development of a suspicion index to aid diagnosis of Niemann-Pick disease type C. Neurology 78: 1560-1567.
    • (2012) Neurology , vol.78 , pp. 1560-1567
    • Wijburg, F.A.1    Sedel, F.2    Pineda, M.3    Hendriksz, C.J.4    Fahey, M.5
  • 6
  • 8
    • 84874080589 scopus 로고    scopus 로고
    • Niemann-Pick disease type C clinical database: Cognitive and coordination deficits are early disease indicators
    • Stampfer M, Theiss S, Amraoui Y, Jiang X, Keller S, et al. (2013) Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicators. Orphanet J Rare Dis 8: 35.
    • (2013) Orphanet J Rare Dis , vol.8 , pp. 35
    • Stampfer, M.1    Theiss, S.2    Amraoui, Y.3    Jiang, X.4    Keller, S.5
  • 9
    • 79959232858 scopus 로고    scopus 로고
    • A sensitive and specific LC-MS/MS method for rapid diagnosis of Niemann-Pick C1 disease from human plasma
    • Jiang X, Sidhu R, Porter FD, Yanjanin NM, Speak AO, et al. (2011) A sensitive and specific LC-MS/MS method for rapid diagnosis of Niemann-Pick C1 disease from human plasma. J Lipid Res 52: 1435- 1445.
    • (2011) J Lipid Res , vol.52 , pp. 1435-1445
    • Jiang, X.1    Sidhu, R.2    Porter, F.D.3    Yanjanin, N.M.4    Speak, A.O.5
  • 10
    • 78149342830 scopus 로고    scopus 로고
    • Cholesterol oxidation products are sensitive and specific blood-based biomarkers for Niemann-Pick C1 disease
    • Porter FD, Scherrer DE, Lanier MH, Langmade SJ, Molugu V, et al. (2010) Cholesterol oxidation products are sensitive and specific blood-based biomarkers for Niemann-Pick C1 disease. Sci Transl Med 2: 56-81.
    • (2010) Sci Transl Med , vol.2 , pp. 56-81
    • Porter, F.D.1    Scherrer, D.E.2    Lanier, M.H.3    Langmade, S.J.4    Molugu, V.5
  • 12
    • 80054841258 scopus 로고    scopus 로고
    • Elevated plasma glucosylsphingosine in Gaucher disease: Relation to phenotype, storage cell markers, and therapeutic response
    • Dekker N, van-Dussen L, Hollak CE, Overkleeft H, Scheij S, et al. (2011) Elevated plasma glucosylsphingosine in Gaucher disease: relation to phenotype, storage cell markers, and therapeutic response. Blood 118: e118-e127.
    • (2011) Blood , vol.118 , pp. e118-e127
    • Dekker, N.1    Van-Dussen, L.2    Hollak, C.E.3    Overkleeft, H.4    Scheij, S.5
  • 13
    • 83755228644 scopus 로고    scopus 로고
    • Lyso-GM2 ganglioside: A possible biomarker of Tay-Sachs disease and Sandhoff disease
    • Kodama T, Togawa T, Tsukimura T, Kawashima I, Matsuoka K, et al. (2011) Lyso-GM2 ganglioside: A possible biomarker of Tay-Sachs disease and Sandhoff disease. PLoS One 6: e29074.
    • (2011) PLoS One , vol.6 , pp. e29074
    • Kodama, T.1    Togawa, T.2    Tsukimura, T.3    Kawashima, I.4    Matsuoka, K.5
  • 14
    • 84875237741 scopus 로고    scopus 로고
    • Determination of psychosine concentration in dried blood spots from newborns that were identified via newborn screening to be at risk for Krabbe disease
    • Chuang WL, Pacheco J, Zhang XK, Martin MM, Biski CK, et al. (2013) Determination of psychosine concentration in dried blood spots from newborns that were identified via newborn screening to be at risk for Krabbe disease. Clin Chim Acta 419: 73-76.
    • (2013) Clin Chim Acta , vol.419 , pp. 73-76
    • Chuang, W.L.1    Pacheco, J.2    Zhang, X.K.3    Martin, M.M.4    Biski, C.K.5
  • 15
    • 84893086797 scopus 로고    scopus 로고
    • Lyso-sphingomyelin is elevated in dried blood spots of Niemann-Pick B patients
    • Chuang WL, Pacheco J, Cooper S, McGovern MM, Cox GF, et al. (2014) Lyso-sphingomyelin is elevated in dried blood spots of Niemann-Pick B patients. Mol Genet Metab 111: 209-211.
    • (2014) Mol Genet Metab , vol.111 , pp. 209-211
    • Chuang, W.L.1    Pacheco, J.2    Cooper, S.3    McGovern, M.M.4    Cox, G.F.5
  • 16
    • 84884164889 scopus 로고    scopus 로고
    • Identification of Niemann-Pick C1 (NPC1) disease biomarkers through sphingolipid profiling
    • Fan M, Sidhu R, Fujiwara H, Tortelli B, Zhang J, et al. (2013) Identification of Niemann-Pick C1 (NPC1) disease biomarkers through sphingolipid profiling. J Lipid Res 54: 2800-2814.
    • (2013) J Lipid Res , vol.54 , pp. 2800-2814
    • Fan, M.1    Sidhu, R.2    Fujiwara, H.3    Tortelli, B.4    Zhang, J.5
  • 17
    • 0020658595 scopus 로고
    • Biochemical studies in Niemann-Pick disease. I. Major sphingolipids of liver and spleen
    • Vanier MT (1983) Biochemical studies in Niemann-Pick disease. I. Major sphingolipids of liver and spleen. Biochim Biophys Acta 750: 178-184.
    • (1983) Biochim Biophys Acta , vol.750 , pp. 178-184
    • Vanier, M.T.1
  • 18
    • 0032892536 scopus 로고    scopus 로고
    • Lipid changes in Niemann-Pick disease type C brain: Personal experience and review of the literature
    • Vanier MT (1999) Lipid changes in Niemann-Pick disease type C brain: personal experience and review of the literature. Neurochem Res 24: 481-489.
    • (1999) Neurochem Res , vol.24 , pp. 481-489
    • Vanier, M.T.1
  • 21
    • 77953479450 scopus 로고    scopus 로고
    • Generic approach to validation of smallmolecule LC-MS/MS biomarker assays
    • Houghton R, Horro Pita C, Ward I, Macarthur R (2009) Generic approach to validation of smallmolecule LC-MS/MS biomarker assays. Bioanalysis 1: 1365-1374.
    • (2009) Bioanalysis , vol.1 , pp. 1365-1374
    • Houghton, R.1    Horro, P.C.2    Ward, I.3    Macarthur, R.4
  • 22
    • 84880342952 scopus 로고    scopus 로고
    • Analysis of lysoglobotriaosylsphingosine in dried blood spots
    • Johnson B, Mascher H, Mascher D, Legnini E, Hung CY, et al. (2013) Analysis of lysoglobotriaosylsphingosine in dried blood spots. Ann Lab Med 33: 274-278.
    • (2013) Ann Lab Med , vol.33 , pp. 274-278
    • Johnson, B.1    Mascher, H.2    Mascher, D.3    Legnini, E.4    Hung, C.Y.5
  • 23
    • 68249147642 scopus 로고    scopus 로고
    • Workshop report and follow-up-AAPS Workshop on current topics in GLP bioanalysis: Assay reproducibility for incurred samples-implications of Crystal City recommendations
    • Fast DM, Kelley M, Viswanathan CT, O'Shaughnessy J, King SP, et al. (2009) Workshop report and follow-up-AAPS Workshop on current topics in GLP bioanalysis: Assay reproducibility for incurred samples-implications of Crystal City recommendations. AAPS J 11: 238-241.
    • (2009) AAPS J , vol.11 , pp. 238-241
    • Fast, D.M.1    Kelley, M.2    Viswanathan, C.T.3    O'Shaughnessy, J.4    King, S.P.5
  • 24
    • 84890390856 scopus 로고    scopus 로고
    • 2013 White Paper on recent issues in bioanalysis: 'Hybrid' - The best of LBA and LCMS
    • Stevenson L, Garofolo F, Desilva B, Dumont I, Martinez S, et al. (2013) 2013 White Paper on recent issues in bioanalysis: 'hybrid' - The best of LBA and LCMS. Bioanalysis 5: 2903-2918.
    • (2013) Bioanalysis , vol.5 , pp. 2903-2918
    • Stevenson, L.1    Garofolo, F.2    Desilva, B.3    Dumont, I.4    Martinez, S.5
  • 25
    • 0001962445 scopus 로고
    • The cerebral defect in Tay-Sachs disease and Niemann-Pick disease
    • Crocker AC (1961) The cerebral defect in Tay-Sachs disease and Niemann-Pick disease. J Neurochem 7: 69-80.
    • (1961) J Neurochem , vol.7 , pp. 69-80
    • Crocker, A.C.1
  • 26
    • 84893352301 scopus 로고    scopus 로고
    • Determination of 7-ketocholesterol in plasma by liquid chromatography mass spectrometry for rapid diagnosis of acid sphingomyelinase deficient Niemann- Pick disease
    • Lin N, Zhang H, Qiu W, Ye J, Han L, et al. (2013) Determination of 7-ketocholesterol in plasma by liquid chromatography mass spectrometry for rapid diagnosis of acid sphingomyelinase deficient Niemann- Pick disease. J Lipid Res 55: 338-343.
    • (2013) J Lipid Res , vol.55 , pp. 338-343
    • Lin, N.1    Zhang, H.2    Qiu, W.3    Ye, J.4    Han, L.5
  • 27
    • 84878412799 scopus 로고    scopus 로고
    • Biological functions of sphingomyelins
    • Slotte JP (2013) Biological functions of sphingomyelins. Prog Lipid Res 52: 424-437.
    • (2013) Prog Lipid Res , vol.52 , pp. 424-437
    • Slotte, J.P.1
  • 28
    • 77951727293 scopus 로고    scopus 로고
    • Lipids on trial: The search for the offending metabolite in Niemann-Pick type C disease
    • Lloyd-Evans E, Platt FM (2010) Lipids on trial: the search for the offending metabolite in Niemann-Pick type C disease. Traffic 11: 419-428.
    • (2010) Traffic , vol.11 , pp. 419-428
    • Lloyd-Evans, E.1    Platt, F.M.2
  • 29
    • 84894280298 scopus 로고    scopus 로고
    • Glucosylsphingosine is a highly sensitive and specific biomarker for primary diagnostic and follow-up monitoring in Gaucher disease in a non-jewish, caucasian cohort of Gaucher disease patients
    • Rolfs A, Giese AK, Grittner U, Mascher D, Elstein D, et al. (2013) Glucosylsphingosine is a highly sensitive and specific biomarker for primary diagnostic and follow-up monitoring in Gaucher disease in a non-jewish, caucasian cohort of Gaucher disease patients. PLoS One 8: e79732.
    • (2013) PLoS One , vol.8 , pp. e79732
    • Rolfs, A.1    Giese, A.K.2    Grittner, U.3    Mascher, D.4    Elstein, D.5
  • 30
    • 84862532953 scopus 로고    scopus 로고
    • Recommendations for the diagnosis and management of Niemann-Pick disease type C: An update
    • Patterson MC, Hendriksz CJ, Walterfang M, Sedel F, Vanier MT, et al. (2012) Recommendations for the diagnosis and management of Niemann-Pick disease type C: An update. Mol Genet Metab 106: 330-344.
    • (2012) Mol Genet Metab , vol.106 , pp. 330-344
    • Patterson, M.C.1    Hendriksz, C.J.2    Walterfang, M.3    Sedel, F.4    Vanier, M.T.5
  • 31
    • 84902465591 scopus 로고    scopus 로고
    • Diagnosis of Niemann-Pick disease type C with 7-ketocholesterol screening followed by NPC1/NPC2 gene mutation confirmation in Chinese patients
    • Zhang H, Wang Y, Lin N, Yang R, Qiu W, et al. (2014) Diagnosis of Niemann-Pick disease type C with 7-ketocholesterol screening followed by NPC1/NPC2 gene mutation confirmation in Chinese patients. Orphanet J Rare Dis 9: 82.
    • (2014) Orphanet J Rare Dis , vol.9 , pp. 82
    • Zhang, H.1    Wang, Y.2    Lin, N.3    Yang, R.4    Qiu, W.5
  • 32
    • 84921786614 scopus 로고    scopus 로고
    • Health economic evaluation of plasma oxysterol screening in the diagnosis of Niemann-Pick Type C disease among intellectually disabled using discrete event simulation
    • Van-Karnebeek CD, Mohammadi T, Tsao N, Sinclair G, Sirrs S, et al. (2014) Health economic evaluation of plasma oxysterol screening in the diagnosis of Niemann-Pick Type C disease among intellectually disabled using discrete event simulation. Mol Genet Metab.
    • (2014) Mol Genet Metab
    • Van-Karnebeek, C.D.1    Mohammadi, T.2    Tsao, N.3    Sinclair, G.4    Sirrs, S.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.