{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,14]],"date-time":"2026-05-14T10:30:32Z","timestamp":1778754632709,"version":"3.51.4"},"reference-count":70,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2020,11,1]],"date-time":"2020-11-01T00:00:00Z","timestamp":1604188800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2020,11,1]],"date-time":"2020-11-01T00:00:00Z","timestamp":1604188800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["18K15699"],"award-info":[{"award-number":["18K15699"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of Pharmaceutical and Biomedical Analysis"],"published-print":{"date-parts":[[2020,11]]},"DOI":"10.1016\/j.jpba.2020.113622","type":"journal-article","created":{"date-parts":[[2020,9,13]],"date-time":"2020-09-13T09:51:43Z","timestamp":1599990703000},"page":"113622","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":9,"special_numbering":"C","title":["Biomarker analysis of Niemann-Pick disease type C using chromatography and mass spectrometry"],"prefix":"10.1016","volume":"191","author":[{"given":"Masamitsu","family":"Maekawa","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Iwahori","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nariyasu","family":"Mano","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.jpba.2020.113622_bib0005","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1111\/j.1471-4159.1961.tb13499.x","article-title":"The cerebral defect in tay-sachs disease and niemann-pick disease","volume":"7","author":"Crocker","year":"1961","journal-title":"J. Neurochem."},{"key":"10.1016\/j.jpba.2020.113622_bib0010","doi-asserted-by":"crossref","first-page":"366","DOI":"10.1073\/pnas.55.2.366","article-title":"The metabolism of sphingomyelin. II. Evidence of an enzymatic deficiency in Niemann-Pick diseae","volume":"55","author":"Brady","year":"1966","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.jpba.2020.113622_bib0015","doi-asserted-by":"crossref","first-page":"654","DOI":"10.1007\/s10545-007-0632-9","article-title":"The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease","volume":"30","author":"Schuchman","year":"2007","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.jpba.2020.113622_bib0020","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1016\/j.ymgme.2016.11.008","article-title":"Niemann-pick disease, type C and roscoe brady","volume":"120","author":"Patterson","year":"2017","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.jpba.2020.113622_bib0025","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1186\/1750-1172-5-16","article-title":"Niemann-Pick disease type C","volume":"5","author":"Vanier","year":"2010","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.jpba.2020.113622_bib0030","doi-asserted-by":"crossref","first-page":"330","DOI":"10.1016\/j.ymgme.2012.03.012","article-title":"Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update","volume":"106","author":"Patterson","year":"2012","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.jpba.2020.113622_bib0035","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1186\/s13023-018-0785-7","article-title":"Consensus clinical management guidelines for Niemann-Pick disease type C","volume":"13","author":"Geberhiwot","year":"2018","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.jpba.2020.113622_bib0040","doi-asserted-by":"crossref","first-page":"8247","DOI":"10.1073\/pnas.82.23.8247","article-title":"A defect in cholesterol esterification in Niemann-Pick disease (type C) patients","volume":"82","author":"Pentchev","year":"1985","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.jpba.2020.113622_bib0045","doi-asserted-by":"crossref","first-page":"2002","DOI":"10.1073\/pnas.90.5.2002","article-title":"Linkage of Niemann-Pick disease type C to human chromosome 18","volume":"90","author":"Carstea","year":"1993","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.jpba.2020.113622_bib0050","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1126\/science.277.5323.228","article-title":"Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis","volume":"277","author":"Carstea","year":"1997","journal-title":"Science."},{"key":"10.1016\/j.jpba.2020.113622_bib0055","doi-asserted-by":"crossref","first-page":"2298","DOI":"10.1126\/science.290.5500.2298","article-title":"Identification of HE1 as the second gene of Niemann-Pick C disease","volume":"290","author":"Naureckiene","year":"2000","journal-title":"Science."},{"key":"10.1016\/j.jpba.2020.113622_bib0060","doi-asserted-by":"crossref","first-page":"1213","DOI":"10.1016\/j.cell.2009.03.049","article-title":"Structure of N-terminal domain of NPC1 reveals distinct subdomains for binding and transfer of cholesterol","volume":"137","author":"Kwon","year":"2009","journal-title":"Cell."},{"key":"10.1016\/j.jpba.2020.113622_bib0065","doi-asserted-by":"crossref","first-page":"4349","DOI":"10.1093\/hmg\/ddt284","article-title":"Genetic screening for Niemann-Pick disease type C in adults with neurological and psychiatric symptoms: findings from the ZOOM study","volume":"22","author":"Bauer","year":"2013","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.jpba.2020.113622_bib0070","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1016\/bs.mcb.2014.10.028","article-title":"Laboratory diagnosis of Niemann-Pick disease type C: the filipin staining test","volume":"126","author":"Vanier","year":"2015","journal-title":"Methods Cell Biol."},{"key":"10.1016\/j.jpba.2020.113622_bib0075","doi-asserted-by":"crossref","first-page":"328","DOI":"10.1016\/0925-4439(91)90069-L","article-title":"Type C Niemann-Pick disease: spectrum of phenotypic variation in disruption of intracellular LDL-derived cholesterol processing","volume":"1096","author":"Vanier","year":"1991","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.jpba.2020.113622_bib0080","doi-asserted-by":"crossref","first-page":"1373","DOI":"10.1086\/320606","article-title":"Niemann-Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop","volume":"68","author":"Millat","year":"2001","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.jpba.2020.113622_bib0085","doi-asserted-by":"crossref","first-page":"220","DOI":"10.1016\/j.ymgme.2005.07.007","article-title":"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","volume":"86","author":"Millat","year":"2005","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.jpba.2020.113622_bib0090","doi-asserted-by":"crossref","first-page":"a001222","DOI":"10.1101\/mcs.a001222","article-title":"Genome sequencing in a case of niemann-pick type C., cold spring harb","volume":"2","author":"Dougherty","year":"2016","journal-title":"Mol. Case Stud."},{"issue":"Suppl","key":"10.1016\/j.jpba.2020.113622_bib0095","doi-asserted-by":"crossref","first-page":"S569","DOI":"10.1007\/s00415-014-7386-8","article-title":"Genetic and laboratory diagnostic approach in Niemann pick disease type C","volume":"261","author":"McKay Bounford","year":"2014","journal-title":"J. Neurol."},{"key":"10.1016\/j.jpba.2020.113622_bib0100","doi-asserted-by":"crossref","first-page":"765","DOI":"10.1016\/S1474-4422(07)70194-1","article-title":"Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study","volume":"6","author":"Patterson","year":"2007","journal-title":"Lancet Neurol."},{"key":"10.1016\/j.jpba.2020.113622_bib0105","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1016\/j.ymgme.2009.07.003","article-title":"Miglustat in patients with Niemann-Pick disease Type C (NP-C): a multicenter observational retrospective cohort study","volume":"98","author":"Pineda","year":"2009","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.jpba.2020.113622_bib0110","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1016\/j.ymgme.2009.12.006","article-title":"Miglustat in adult and juvenile patients with Niemann-Pick disease type C: long-term data from a clinical trial","volume":"99","author":"Wraith","year":"2010","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.jpba.2020.113622_bib0115","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1186\/1750-1172-7-76","article-title":"Dysphagia as a risk factor for mortality in Niemann-Pick disease type C: systematic literature review and evidence from studies with miglustat","volume":"7","author":"Walterfang","year":"2012","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.jpba.2020.113622_bib0120","doi-asserted-by":"crossref","first-page":"2377","DOI":"10.1073\/pnas.0810895106","article-title":"Reversal of defective lysosomal transport in NPC disease ameliorates liver dysfunction and neurodegeneration in the npc1-\/- mouse","volume":"106","author":"Liu","year":"2009","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.jpba.2020.113622_bib0125","doi-asserted-by":"crossref","first-page":"1758","DOI":"10.1016\/S0140-6736(17)31465-4","article-title":"Intrathecal 2-hydroxypropyl-beta-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1-2 trial","volume":"390","author":"Ory","year":"2017","journal-title":"Lancet (London, England)."},{"key":"10.1016\/j.jpba.2020.113622_bib0130","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1016\/j.ymgme.2013.04.010","article-title":"Reply: lung toxicity of hydroxyl-beta-cyclodextrin infusion","volume":"109","author":"Matsuo","year":"2013","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.jpba.2020.113622_bib0135","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1016\/j.ymgmr.2014.08.004","article-title":"Effects of intracerebroventricular administration of 2-hydroxypropyl-\u03b2-cyclodextrin in a patient with Niemann\u2013pick Type C disease","volume":"1","author":"Matsuo","year":"2014","journal-title":"Mol. Genet. Metab. Reports."},{"key":"10.1016\/j.jpba.2020.113622_bib0140","doi-asserted-by":"crossref","first-page":"853","DOI":"10.1023\/A:1005474803278","article-title":"Cholesterol and oxygenated cholesterol concentrations are markedly elevated in peripheral tissue but not in brain from mice with the Niemann-Pick type C phenotype","volume":"21","author":"Tint","year":"1998","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.jpba.2020.113622_bib0145","doi-asserted-by":"crossref","first-page":"e19","DOI":"10.1371\/journal.pone.0000019","article-title":"Clues to neuro-degeneration in Niemann-Pick type C disease from global gene expression profiling","volume":"1","author":"Reddy","year":"2006","journal-title":"PLoS One"},{"key":"10.1016\/j.jpba.2020.113622_bib0150","doi-asserted-by":"crossref","first-page":"3786","DOI":"10.1111\/j.1582-4934.2008.00493.x","article-title":"Oxidative stress in NPC1 deficient cells: protective effect of allopregnanolone","volume":"13","author":"Zampieri","year":"2009","journal-title":"J. Cell. Mol. Med."},{"key":"10.1016\/j.jpba.2020.113622_bib0155","first-page":"2281","article-title":"Niemann-Pick C1 protects against atherosclerosis in mice via regulation of macrophage intracellular cholesterol trafficking","volume":"118","author":"Zhang","year":"2008","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.jpba.2020.113622_bib0160","doi-asserted-by":"crossref","first-page":"214","DOI":"10.1016\/j.ymgme.2010.06.018","article-title":"Oxidative stress in Niemann-Pick disease, type C","volume":"101","author":"Fu","year":"2010","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.jpba.2020.113622_bib0165","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1126\/scitranslmed.3001417","article-title":"Cholesterol oxidation products are sensitive and specific blood-based biomarkers for Niemann-Pick C1 disease","volume":"2","author":"Porter","year":"2010","journal-title":"Sci. Transl. Med."},{"key":"10.1016\/j.jpba.2020.113622_bib0170","doi-asserted-by":"crossref","first-page":"911","DOI":"10.1139\/y59-099","article-title":"A rapid method of total lipid extraction and purification","volume":"37","author":"Bligh","year":"1959","journal-title":"Can. J. Biochem. Physiol."},{"key":"10.1016\/j.jpba.2020.113622_bib0175","doi-asserted-by":"crossref","first-page":"1435","DOI":"10.1194\/jlr.D015735","article-title":"A sensitive and specific LC-MS\/MS method for rapid diagnosis of Niemann-Pick C1 disease from human plasma","volume":"52","author":"Jiang","year":"2011","journal-title":"J. Lipid Res."},{"key":"10.1016\/j.jpba.2020.113622_bib0180","doi-asserted-by":"crossref","first-page":"2063","DOI":"10.1194\/jlr.D800017-JLR200","article-title":"Highly sensitive analysis of sterol profiles in human serum by LC-ESI-MS\/MS","volume":"49","author":"Honda","year":"2008","journal-title":"J. Lipid Res."},{"key":"10.1016\/j.jpba.2020.113622_bib0185","doi-asserted-by":"crossref","first-page":"350","DOI":"10.1194\/jlr.D800040-JLR200","article-title":"Highly sensitive quantification of key regulatory oxysterols in biological samples by LC-ESI-MS\/MS","volume":"50","author":"Honda","year":"2009","journal-title":"J. Lipid Res."},{"key":"10.1016\/j.jpba.2020.113622_bib0190","doi-asserted-by":"crossref","first-page":"120","DOI":"10.1016\/j.chroma.2007.10.023","article-title":"Use of novel picolinoyl derivatization for simultaneous quantification of six corticosteroids by liquid chromatography-electrospray ionization tandem mass spectrometry","volume":"1173","author":"Yamashita","year":"2007","journal-title":"J. Chromatogr. A"},{"key":"10.1016\/j.jpba.2020.113622_bib0195","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1016\/j.steroids.2006.10.005","article-title":"Synthesis of pyridine-carboxylate derivatives of hydroxysteroids for liquid chromatography-electrospray ionization-mass spectrometry","volume":"72","author":"Yamashita","year":"2007","journal-title":"Steroids."},{"key":"10.1016\/j.jpba.2020.113622_bib0200","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1016\/j.freeradbiomed.2012.07.027","article-title":"Analytical strategies for characterization of oxysterol lipidomes: liver X receptor ligands in plasma","volume":"59","author":"Griffiths","year":"2013","journal-title":"Free Radic. Biol. Med."},{"key":"10.1016\/j.jpba.2020.113622_bib0205","doi-asserted-by":"crossref","first-page":"338","DOI":"10.1194\/jlr.D044024","article-title":"Determination of 7-ketocholesterol in plasma by LC-MS for rapid diagnosis of acid SMase-deficient Niemann-Pick disease","volume":"55","author":"Lin","year":"2014","journal-title":"J. Lipid Res."},{"key":"10.1016\/j.jpba.2020.113622_bib0210","doi-asserted-by":"crossref","first-page":"1571","DOI":"10.1016\/S0022-2275(20)32210-0","article-title":"Identification of unusual 7-oxygenated bile acid sulfates in a patient with Niemann-Pick disease, type C","volume":"42","author":"Alvelius","year":"2001","journal-title":"J. Lipid Res."},{"key":"10.1016\/j.jpba.2020.113622_bib0215","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1016\/j.steroids.2005.07.008","article-title":"Chemical synthesis of the 3-sulfooxy-7-N-acetylglucosaminyl-24-amidated conjugates of 3\u03b2,7\u03b2-dihydroxy-5-cholen-24-oic acid, and related compounds: Unusual, major metabolites of bile acid in a patient with Niemann-Pick disease type C1","volume":"71","author":"Iida","year":"2006","journal-title":"Steroids"},{"key":"10.1016\/j.jpba.2020.113622_bib0220","doi-asserted-by":"crossref","first-page":"766","DOI":"10.1016\/j.steroids.2009.04.007","article-title":"Chemical synthesis of 3beta-sulfooxy-7beta-hydroxy-24-nor-5-cholenoic acid: an internal standard for mass spectrometric analysis of the abnormal delta5-bile acids occurring in Niemann-Pick disease","volume":"74","author":"Kakiyama","year":"2009","journal-title":"Steroids."},{"key":"10.1016\/j.jpba.2020.113622_bib0225","doi-asserted-by":"crossref","DOI":"10.1016\/j.steroids.2013.05.017","article-title":"LC\/ESI-MS\/MS analysis of urinary 3\u03b2-sulfooxy-7\u03b2-N- acetylglucosaminyl- 5-cholen-24-oic acid and its amides: New biomarkers for the detection of Niemann-Pick type C disease","volume":"78","author":"Maekawa","year":"2013","journal-title":"Steroids."},{"key":"10.1016\/j.jpba.2020.113622_bib0230","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1016\/j.cca.2019.03.1610","article-title":"Diagnostic performance evaluation of sulfate-conjugated cholesterol metabolites as urinary biomarkers of Niemann\u2013pick disease type C","volume":"494","author":"Maekawa","year":"2019","journal-title":"Clin. Chim. Acta"},{"key":"10.1016\/j.jpba.2020.113622_bib0235","doi-asserted-by":"crossref","first-page":"576","DOI":"10.1177\/0004563214568871","article-title":"Focused metabolomics using liquid chromatography\/electrospray ionization tandem mass spectrometry for analysis of urinary conjugated cholesterol metabolites from patients with Niemann\u2013pick disease type C and 3\u03b2-hydroxysteroid dehydrogenase deficiency","volume":"52","author":"Maekawa","year":"2015","journal-title":"Ann. Clin. Biochem."},{"key":"10.1016\/j.jpba.2020.113622_bib0240","doi-asserted-by":"crossref","first-page":"e0169719","DOI":"10.1371\/journal.pone.0169719","article-title":"Preference of conjugated bile acids over unconjugated bile acids as substrates for OATP1B1 and OATP1B3","volume":"12","author":"Suga","year":"2017","journal-title":"PLoS One"},{"key":"10.1016\/j.jpba.2020.113622_bib0245","doi-asserted-by":"crossref","first-page":"114664","DOI":"10.1016\/j.taap.2019.114664","article-title":"Altered bile acid composition and disposition in a mouse model of non-alcoholic steatohepatitis","volume":"379","author":"Suga","year":"2019","journal-title":"Toxicol. Appl. Pharmacol."},{"key":"10.1016\/j.jpba.2020.113622_bib0250","first-page":"593","article-title":"Disorders of bile acid synthesis., J. Inherit","volume":"34","author":"Clayton","year":"2011","journal-title":"Metab. Dis."},{"key":"10.1016\/j.jpba.2020.113622_bib0255","doi-asserted-by":"crossref","first-page":"80","DOI":"10.1016\/j.steroids.2013.11.016","article-title":"Tandem mass spectrometric characterization of bile acids and steroid conjugates based on low-energy collision-induced dissociation","volume":"80","author":"Maekawa","year":"2014","journal-title":"Steroids."},{"key":"10.1016\/j.jpba.2020.113622_bib0260","article-title":"Identification of two sulfated cholesterol metabolites found in the urine of a patient with Niemann\u2013Pick disease type C as novel candidate diagnostic markers","volume":"5","author":"Maekawa","year":"2016","journal-title":"Mass Spectrom. Tokyo (Tokyo)"},{"key":"10.1016\/j.jpba.2020.113622_bib0265","doi-asserted-by":"crossref","first-page":"2074","DOI":"10.1194\/jlr.M093971","article-title":"Investigation of diagnostic performance of five urinary cholesterol metabolites for Niemann-Pick disease type C","volume":"60","author":"Maekawa","year":"2019","journal-title":"J. Lipid Res."},{"key":"10.1016\/j.jpba.2020.113622_bib0270","doi-asserted-by":"crossref","first-page":"1651","DOI":"10.1002\/1873-3468.12196","article-title":"Identification of novel bile acids as biomarkers for the early diagnosis of Niemann-Pick C disease","volume":"590","author":"Mazzacuva","year":"2016","journal-title":"FEBS Lett."},{"key":"10.1016\/j.jpba.2020.113622_bib0275","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1126\/scitranslmed.aaf2326","article-title":"Development of a bile acid-based newborn screen for Niemann-Pick disease type C","volume":"8","author":"Jiang","year":"2016","journal-title":"Sci. Transl. Med."},{"key":"10.1016\/j.jpba.2020.113622_bib0280","doi-asserted-by":"crossref","first-page":"178","DOI":"10.1016\/0005-2760(83)90218-7","article-title":"Biochemical studies in Niemann-Pick disease. I. Major sphingolipids of liver and spleen","volume":"750","author":"Vanier","year":"1983","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.jpba.2020.113622_bib0285","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1016\/0006-8993(73)90306-5","article-title":"The distribution of lipids in the human nervous system. IV. Fatty acid composition of major sphingolipids of human infant brain","volume":"55","author":"Svennerholm","year":"1973","journal-title":"Brain Res."},{"key":"10.1016\/j.jpba.2020.113622_bib0290","doi-asserted-by":"crossref","first-page":"e114669","DOI":"10.1371\/journal.pone.0114669","article-title":"Plasma lysosphingomyelin demonstrates great potential as a diagnostic biomarker for Niemann-Pick disease type C in a retrospective study","volume":"9","author":"Welford","year":"2014","journal-title":"PLoS One"},{"key":"10.1016\/j.jpba.2020.113622_bib0295","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1186\/s13023-015-0274-1","article-title":"A novel, highly sensitive and specific biomarker for Niemann-Pick type C1 disease","volume":"10","author":"Giese","year":"2015","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.jpba.2020.113622_bib0300","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1016\/j.ab.2017.02.019","article-title":"Quantitation of plasmatic lysosphingomyelin and lysosphingomyelin-509 for differential screening of Niemann-Pick A\/B and C diseases","volume":"525","author":"Kuchar","year":"2017","journal-title":"Anal. Biochem."},{"key":"10.1016\/j.jpba.2020.113622_bib0305","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1016\/j.ymgme.2017.12.431","article-title":"Rapid screening for lipid storage disorders using biochemical markers. Expert center data and review of the literature","volume":"123","author":"Voorink-Moret","year":"2018","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.jpba.2020.113622_bib0310","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1016\/j.cca.2018.08.039","article-title":"The impact of biomarkers analysis in the diagnosis of Niemann-Pick C disease and acid sphingomyelinase deficiency","volume":"486","author":"Deodato","year":"2018","journal-title":"Clin. Chim. Acta"},{"key":"10.1016\/j.jpba.2020.113622_bib0315","doi-asserted-by":"crossref","first-page":"457","DOI":"10.1007\/s10545-017-0126-3","article-title":"Contribution of tandem mass spectrometry to the diagnosis of lysosomal storage disorders","volume":"41","author":"Piraud","year":"2018","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.jpba.2020.113622_bib0320","doi-asserted-by":"crossref","first-page":"3810","DOI":"10.1021\/acs.analchem.5b04888","article-title":"Hydrogen Attachment\/Abstraction dissociation (HAD) of gas-phase peptide ions for tandem mass spectrometry","volume":"88","author":"Takahashi","year":"2016","journal-title":"Anal. Chem."},{"key":"10.1016\/j.jpba.2020.113622_bib0325","doi-asserted-by":"crossref","first-page":"7230","DOI":"10.1021\/acs.analchem.8b00322","article-title":"Structural analysis of phospholipid using hydrogen abstraction dissociation and oxygen attachment dissociation in tandem mass spectrometry","volume":"90","author":"Takahashi","year":"2018","journal-title":"Anal. Chem."},{"key":"10.1016\/j.jpba.2020.113622_bib0330","doi-asserted-by":"crossref","first-page":"5018","DOI":"10.3390\/ijms20205018","article-title":"Structural determination of Lysosphingomyelin-509 and discovery of novel class lipids from patients with Niemann\u2013Pick disease type C","volume":"20","author":"Maekawa","year":"2019","journal-title":"Int. J. Mol. Sci."},{"key":"10.1016\/j.jpba.2020.113622_bib0335","doi-asserted-by":"crossref","first-page":"1410","DOI":"10.1194\/jlr.RA119000157","article-title":"N-acyl-O-phosphocholineserines: structures of a novel class of lipids that are biomarkers for Niemann-Pick C1 disease","volume":"60","author":"Sidhu","year":"2019","journal-title":"J. Lipid Res."},{"key":"10.1016\/j.jpba.2020.113622_bib0340","doi-asserted-by":"crossref","first-page":"292","DOI":"10.1016\/j.ymgme.2020.01.007","article-title":"Application of N-palmitoyl-O-phosphocholineserine for diagnosis and assessment of response to treatment in Niemann-Pick type C disease","volume":"129","author":"Sidhu","year":"2020","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.jpba.2020.113622_bib0345","doi-asserted-by":"crossref","DOI":"10.1248\/bpb.b20-00400","article-title":"Development of a diagnostic screening strategy for Niemann\u2013pick diseases based on simultaneous liquid chromatography\/tandem mass spectrometry analyses of N-palmitoyl-O-phosphocholine-serine and sphingosylphosphorylcholine","author":"Iwahori","year":"2020","journal-title":"Biol. Pharm. Bull."},{"key":"10.1016\/j.jpba.2020.113622_bib0350","first-page":"76","article-title":"Global metabolomics analysis of serum from patients with Niemann pick disease type C","volume":"4","author":"Iwahori","year":"2020","journal-title":"Med. Mass Spectrom."}],"container-title":["Journal of Pharmaceutical and Biomedical Analysis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0731708520315089?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0731708520315089?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,5,14]],"date-time":"2026-05-14T10:00:59Z","timestamp":1778752859000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0731708520315089"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,11]]},"references-count":70,"alternative-id":["S0731708520315089"],"URL":"https:\/\/doi.org\/10.1016\/j.jpba.2020.113622","relation":{},"ISSN":["0731-7085"],"issn-type":[{"value":"0731-7085","type":"print"}],"subject":[],"published":{"date-parts":[[2020,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Biomarker analysis of Niemann-Pick disease type C using chromatography and mass spectrometry","name":"articletitle","label":"Article Title"},{"value":"Journal of Pharmaceutical and Biomedical Analysis","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jpba.2020.113622","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2020 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}],"article-number":"113622"}}