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Volumn 54, Issue 7, 2016, Pages 1221-1229

High level of oxysterols in neonatal cholestasis: A pitfall in analysis of biochemical markers for Niemann-Pick type C disease

Author keywords

cholestasis; neonate; Niemann Pick type C disease; oxysterol

Indexed keywords

7 OXOCHOLESTEROL; BILIRUBIN GLUCURONIDE; CHOLESTANOL; DIMETHYLGLYCINE; ESTER; OXYSTEROL; BIOLOGICAL MARKER;

EID: 84974712444     PISSN: 14346621     EISSN: 14374331     Source Type: Journal    
DOI: 10.1515/cclm-2015-0669     Document Type: Article
Times cited : (38)

References (29)
  • 1
    • 84954341816 scopus 로고    scopus 로고
    • High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets
    • [Epub ahead of print]
    • Wassif CA, Cross JL, Iben J, Sanchez-Pulido L, Cougnoux A, Platt FM, et al. High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets. Genet Med. 2015. doi: 10. 1038/gim. 2015. 25. [Epub ahead of print].
    • (2015) Genet Med.
    • Wassif, C.A.1    Cross, J.L.2    Iben, J.3    Sanchez-Pulido, L.4    Cougnoux, A.5    Platt, F.M.6
  • 2
    • 77953019480 scopus 로고    scopus 로고
    • Niemann-Pick disease type C
    • Vanier MT. Niemann-Pick disease type C. Orphanet J Rare Dis. 2010;5:16.
    • (2010) Orphanet J Rare Dis. , vol.5 , pp. 16
    • Vanier, M.T.1
  • 3
    • 0028334261 scopus 로고
    • Free sphingoid bases in tissues from patients with type C Niemann-Pick disease and other lysosomal storage disorders
    • Rodriguez-Lafrasse C, Rousson R, Pentchev PG, Louisot P, Vanier MT. Free sphingoid bases in tissues from patients with type C Niemann-Pick disease and other lysosomal storage disorders. Biochim Biophys Acta. 1994;1226:138-44.
    • (1994) Biochim Biophys Acta. , vol.1226 , pp. 138-144
    • Rodriguez-Lafrasse, C.1    Rousson, R.2    Pentchev, P.G.3    Louisot, P.4    Vanier, M.T.5
  • 4
    • 0032892536 scopus 로고    scopus 로고
    • Lipid changes in Niemann-Pick disease type C brain: Personal experience and review of the literature
    • Vanier MT. Lipid changes in Niemann-Pick disease type C brain: personal experience and review of the literature. Neurochem Res 1999;24:481-9.
    • (1999) Neurochem Res , vol.24 , pp. 481-489
    • Vanier, M.T.1
  • 6
    • 34249909505 scopus 로고    scopus 로고
    • The National Niemann-Pick C1 disease database: Report of clinical features and health problems
    • Garver WS, Francis GA, Jelinek D, Shepherd G, Flynn J, Castro G, et al. The National Niemann-Pick C1 disease database: report of clinical features and health problems. Am J Med Genet A. 2007;143A:1204-11.
    • (2007) Am J Med Genet A. , vol.143 A , pp. 1204-1211
    • Garver, W.S.1    Francis, G.A.2    Jelinek, D.3    Shepherd, G.4    Flynn, J.5    Castro, G.6
  • 7
    • 75149112854 scopus 로고    scopus 로고
    • Cost of illness associated with Niemann-Pick disease type C in the UK
    • Imrie J, Galani C, Gairy K, Lock K, Hunsche E. Cost of illness associated with Niemann-Pick disease type C in the UK. J Med Econ 2009;12:219-29.
    • (2009) J Med Econ , vol.12 , pp. 219-229
    • Imrie, J.1    Galani, C.2    Gairy, K.3    Lock, K.4    Hunsche, E.5
  • 8
    • 33748714980 scopus 로고    scopus 로고
    • Critical assessment of chitotriosidase analysis in the rational laboratory diagnosis of children with Gaucher disease and Niemann-Pick disease type A/B and C
    • Ries M, Schaefer E, Luhrs T, Mani L, Kuhn J, Vanier MT, et al. Critical assessment of chitotriosidase analysis in the rational laboratory diagnosis of children with Gaucher disease and Niemann-Pick disease type A/B and C. J Inherit Metab Dis 2006;29:647-52.
    • (2006) J Inherit Metab Dis , vol.29 , pp. 647-652
    • Ries, M.1    Schaefer, E.2    Luhrs, T.3    Mani, L.4    Kuhn, J.5    Vanier, M.T.6
  • 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, te Vruchte DT, et al. A sensitive and specific LC-MS/MS method for rapid diagnosis of Niemann-Pick C1 disease from human plasma. J Lipid Res 2011;52:1435-45.
    • (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    Te Vruchte, D.T.6
  • 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, Gale SE, et al. Cholesterol oxidation products are sensitive and specific blood-based biomarkers for Niemann-Pick C1 disease. Sci Transl Med 2010;2:56ra81.
    • (2010) Sci Transl Med , vol.2 , pp. 56ra81
    • Porter, F.D.1    Scherrer, D.E.2    Lanier, M.H.3    Langmade, S.J.4    Molugu, V.5    Gale, S.E.6
  • 12
    • 84974659781 scopus 로고    scopus 로고
    • Niemann-Pick type C-2 disease: Identification by analysis of plasma cholestane-3beta, 5alpha, 6beta-triol and further insight into the clinical phenotype
    • Reunert J, Lotz-Havla AS, Polo G, Kannenberg F, Fobker M, Griese M, et al. Niemann-Pick type C-2 disease: identification by analysis of plasma cholestane-3beta, 5alpha, 6beta-triol and further insight into the clinical phenotype. JIMD Rep 2015;23:17-26.
    • (2015) JIMD Rep , vol.23 , pp. 17-26
    • Reunert, J.1    Lotz-Havla, A.S.2    Polo, G.3    Kannenberg, F.4    Fobker, M.5    Griese, M.6
  • 13
    • 26244438721 scopus 로고    scopus 로고
    • 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, Bailo N, Molinero S, Rodriguez C, Chikh K, Vanier MT. 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. Mol Genet Metab 2005;86:220-32.
    • (2005) Mol Genet Metab , vol.86 , pp. 220-232
    • Millat, G.1    Bailo, N.2    Molinero, S.3    Rodriguez, C.4    Chikh, K.5    Vanier, M.T.6
  • 14
    • 84906569581 scopus 로고    scopus 로고
    • Genetic and laboratory diagnostic approach in Niemann Pick disease type C
    • McKay K, Gissen P. Genetic and laboratory diagnostic approach in Niemann Pick disease type C. J Neurol 2014;261(Suppl 2):569-75.
    • (2014) J Neurol , vol.261 , pp. 569-575
    • McKay, K.1    Gissen, P.2
  • 15
    • 84884306056 scopus 로고    scopus 로고
    • Methods for oxysterol analysis: Past, present and future
    • Griffiths WJ, Crick PJ, Wang Y. Methods for oxysterol analysis: past, present and future. Biochem Pharmacol 2013;86:3-14.
    • (2013) Biochem Pharmacol , vol.86 , pp. 3-14
    • Griffiths, W.J.1    Crick, P.J.2    Wang, Y.3
  • 17
    • 64749098311 scopus 로고    scopus 로고
    • Highly sensitive quantification of key regulatory oxysterols in biological samples by LC-ESI-MS/MS
    • Honda A, Yamashita K, Hara T, Ikegami T, Miyazaki T, Shirai M, et al. Highly sensitive quantification of key regulatory oxysterols in biological samples by LC-ESI-MS/MS. J Lipid Res 2009;50:350-7.
    • (2009) J Lipid Res , vol.50 , pp. 350-357
    • Honda, A.1    Yamashita, K.2    Hara, T.3    Ikegami, T.4    Miyazaki, T.5    Shirai, M.6
  • 18
    • 84905216184 scopus 로고    scopus 로고
    • A new simple and rapid LC-ESI-MS/MS method for quantification of plasma oxysterols as dimethylaminobutyrate esters. Its successful use for the diagnosis of Niemann-Pick type C disease
    • Boenzi S, Deodato F, Taurisano R, Martinelli D, Verrigni D, Carrozzo R, et al. A new simple and rapid LC-ESI-MS/MS method for quantification of plasma oxysterols as dimethylaminobutyrate esters. Its successful use for the diagnosis of Niemann-Pick type C disease. Clin Chim Acta 2014;437:93-100.
    • (2014) Clin Chim Acta , vol.437 , pp. 93-100
    • Boenzi, S.1    Deodato, F.2    Taurisano, R.3    Martinelli, D.4    Verrigni, D.5    Carrozzo, R.6
  • 19
    • 0028816863 scopus 로고
    • Determination of cholesterol oxidation products in human plasma by isotope dilution-mass spectrometry
    • Dzeletovic S, Breuer O, Lund E, Diczfalusy U. Determination of cholesterol oxidation products in human plasma by isotope dilution-mass spectrometry. Anal Biochem 1995;225:73-80.
    • (1995) Anal Biochem , vol.225 , pp. 73-80
    • Dzeletovic, S.1    Breuer, O.2    Lund, E.3    Diczfalusy, U.4
  • 20
    • 84942370330 scopus 로고    scopus 로고
    • Inherited metabolic disorders presenting as acute liver failure in newborns and young children: King's College Hospital experience
    • Hegarty R, Hadzic N, Gissen P, Dhawan A. Inherited metabolic disorders presenting as acute liver failure in newborns and young children: King's College Hospital experience. Eur J Pediatr 2015;174:1387-92.
    • (2015) Eur J Pediatr , vol.174 , pp. 1387-1392
    • Hegarty, R.1    Hadzic, N.2    Gissen, P.3    Dhawan, A.4
  • 21
    • 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, Han L, et al. 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 2014;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    Han, L.6
  • 22
    • 30444449036 scopus 로고    scopus 로고
    • High preoperative recipient plasma 7beta-hydroxycholesterol is associated with initial poor graft function after liver transplantation
    • Corradini SG, Micheletta F, Natoli S, Iappelli M, Di Angelantonio E, De Marco R, et al. High preoperative recipient plasma 7beta-hydroxycholesterol is associated with initial poor graft function after liver transplantation. Liver Transpl 2005;11:1494-504.
    • (2005) Liver Transpl , vol.11 , pp. 1494-1504
    • Corradini, S.G.1    Micheletta, F.2    Natoli, S.3    Iappelli, M.4    Di Angelantonio, E.5    De Marco, R.6
  • 23
    • 84856586374 scopus 로고    scopus 로고
    • Inverse correlation between plasma oxysterol and LDL-cholesterol levels in hepatitis C virus-infected patients
    • Arciello M, Petta S, Leoni V, Iannucci G, Labbadia G, Camma C, et al. Inverse correlation between plasma oxysterol and LDL-cholesterol levels in hepatitis C virus-infected patients. Dig Liver Dis 2012;44:245-50.
    • (2012) Dig Liver Dis , vol.44 , pp. 245-250
    • Arciello, M.1    Petta, S.2    Leoni, V.3    Iannucci, G.4    Labbadia, G.5    Camma, C.6
  • 24
    • 77951610232 scopus 로고    scopus 로고
    • Oxidative stress and the pathogenesis of cholestasis
    • Copple BL, Jaeschke H, Klaassen CD. Oxidative stress and the pathogenesis of cholestasis. Semin Liver Dis 2010;30:195-204.
    • (2010) Semin Liver Dis , vol.30 , pp. 195-204
    • Copple, B.L.1    Jaeschke, H.2    Klaassen, C.D.3
  • 27
    • 84893352301 scopus 로고    scopus 로고
    • Determination of 7-ketocholesterol in plasma by LC-MS for rapid diagnosis of acid SMase-deficient Niemann-Pick disease
    • Lin N, Zhang H, Qiu W, Ye J, Han L, Wang Y, et al. Determination of 7-ketocholesterol in plasma by LC-MS for rapid diagnosis of acid SMase-deficient Niemann-Pick disease. J Lipid Res 2014;55:338-43.
    • (2014) J Lipid Res , vol.55 , pp. 338-343
    • Lin, N.1    Zhang, H.2    Qiu, W.3    Ye, J.4    Han, L.5    Wang, Y.6
  • 28
    • 84929962069 scopus 로고    scopus 로고
    • LC-MS/MS based assay and reference intervals in children and adolescents for oxysterols elevated in Niemann-Pick diseases
    • Klinke G, Rohrbach M, Giugliani R, Burda P, Baumgartner MR, Tran C, et al. LC-MS/MS based assay and reference intervals in children and adolescents for oxysterols elevated in Niemann-Pick diseases. Clin Biochem 2015;48:596-602.
    • (2015) Clin Biochem , vol.48 , pp. 596-602
    • Klinke, G.1    Rohrbach, M.2    Giugliani, R.3    Burda, P.4    Baumgartner, M.R.5    Tran, C.6


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