{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,21]],"date-time":"2026-03-21T20:38:51Z","timestamp":1774125531911,"version":"3.50.1"},"reference-count":40,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2006,3,1]],"date-time":"2006-03-01T00:00:00Z","timestamp":1141171200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2016,10,7]],"date-time":"2016-10-07T00:00:00Z","timestamp":1475798400000},"content-version":"vor","delay-in-days":3873,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Molecular Therapy"],"published-print":{"date-parts":[[2006,3]]},"DOI":"10.1016\/j.ymthe.2005.08.020","type":"journal-article","created":{"date-parts":[[2005,10,18]],"date-time":"2005-10-18T21:12:52Z","timestamp":1129669972000},"page":"556-564","source":"Crossref","is-referenced-by-count":29,"title":["Identification of Novel Biomarkers for Niemann\u2013Pick Disease Using Gene Expression Analysis of Acid Sphingomyelinase Knockout Mice"],"prefix":"10.1016","volume":"13","author":[{"given":"Rajwinder","family":"Dhami","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marco A.","family":"Passini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Edward H.","family":"Schuchman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.ymthe.2005.08.020_bib1","series-title":"The Metabolic and Molecular Basis of Inherited Disease","first-page":"3589","article-title":"Types A and B Niemann\u2013Pick disease","author":"Schuchman","year":"2001"},{"key":"10.1016\/j.ymthe.2005.08.020_bib2","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1007\/BF00442673","article-title":"Niemann\u2013Pick disease (variation in the sphingomyelinase deficient group): neurovisceral phenotype (A) with an abnormally protracted clinical course and variable expression of neurological symptomatology in three siblings","volume":"140","author":"Elleder","year":"1983","journal-title":"Eur. J. Pediatr."},{"key":"10.1016\/j.ymthe.2005.08.020_bib3","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1016\/S0002-9343(02)01150-6","article-title":"Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry","volume":"113","author":"Weinreb","year":"2002","journal-title":"Am. J. Med."},{"key":"10.1016\/j.ymthe.2005.08.020_bib4","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1086\/422366","article-title":"Long-term safety and efficacy of enzyme replacement therapy for Fabry disease","volume":"75","author":"Wilcox","year":"2004","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ymthe.2005.08.020_bib5","doi-asserted-by":"crossref","first-page":"581","DOI":"10.1016\/j.jpeds.2004.01.046","article-title":"Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-l-iduronidase (laronidase)","volume":"144","author":"Wraith","year":"2004","journal-title":"J. Pediatr."},{"key":"10.1016\/j.ymthe.2005.08.020_bib6","doi-asserted-by":"crossref","first-page":"495","DOI":"10.1002\/ana.20019","article-title":"Enzyme replacement therapy in late-onset Pompe's disease: a three-year follow-up","volume":"55","author":"Winkel","year":"2004","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.ymthe.2005.08.020_bib7","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1111\/j.1651-2227.2002.tb03118.x","article-title":"Enzyme replacement therapy in mucopolysaccharidosis type II (Hunter syndrome): a preliminary report","volume":"92","author":"Muenzer","year":"2002","journal-title":"Acta Paediatr. Suppl."},{"key":"10.1016\/j.ymthe.2005.08.020_bib8","doi-asserted-by":"crossref","first-page":"574","DOI":"10.1016\/j.jpeds.2004.03.018","article-title":"Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)","volume":"144","author":"Harmatz","year":"2004","journal-title":"J. Pediatr."},{"key":"10.1016\/j.ymthe.2005.08.020_bib9","doi-asserted-by":"crossref","first-page":"681","DOI":"10.1023\/A:1022935115323","article-title":"The osteodystrophy of mucolipidosis type III and the effects of intravenous pamidronate treatment","volume":"25","author":"Robinson","year":"2002","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymthe.2005.08.020_bib10","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1111\/j.1651-2227.2002.tb03112.x","article-title":"Endothelial markers and homocysteine in patients with classic Fabry disease","volume":"91","author":"Demuth","year":"2002","journal-title":"Acta Paediatr. Suppl."},{"key":"10.1016\/j.ymthe.2005.08.020_bib11","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1016\/S1079-9796(03)00012-3","article-title":"Enzyme therapy of Gaucher disease: clinical and biochemical changes during production of and tolerization for neutralizing antibodies","volume":"30","author":"Zhao","year":"2003","journal-title":"Blood Cells Mol. Dis."},{"key":"10.1016\/j.ymthe.2005.08.020_bib12","doi-asserted-by":"crossref","first-page":"629","DOI":"10.1023\/B:BOLI.0000005619.14180.5c","article-title":"A model of neuronopathic Gaucher disease","volume":"26","author":"Campbell","year":"2003","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymthe.2005.08.020_bib13","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1016\/j.cccn.2004.02.018","article-title":"Correlation of surrogate markers of Gaucher disease: implications for long-term follow up of enzyme replacement therapy","volume":"344","author":"Cabrera-Salazar","year":"2004","journal-title":"Clin. Chim. Acta"},{"key":"10.1016\/j.ymthe.2005.08.020_bib14","doi-asserted-by":"crossref","first-page":"974","DOI":"10.1093\/brain\/awg089","article-title":"Central nervous system inflammation is a hallmark of pathogenesis in mouse models of GM1 and GM2 gangliosidosis","volume":"126","author":"Jeyakumar","year":"2003","journal-title":"Brain"},{"key":"10.1016\/j.ymthe.2005.08.020_bib15","doi-asserted-by":"crossref","first-page":"288","DOI":"10.1038\/ng0795-288","article-title":"Acid sphingomyelinase deficient mice: a model of types A and B Niemann\u2013Pick disease","volume":"10","author":"Horinouchi","year":"1995","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ymthe.2005.08.020_bib16","doi-asserted-by":"crossref","first-page":"444","DOI":"10.1182\/blood.V90.1.444","article-title":"Bone marrow transplantation in acid sphingomyelinase-deficient mice: engraftment and cell migration into the brain as a function of radiation, age, and phenotype","volume":"90","author":"Miranda","year":"1997","journal-title":"Blood"},{"key":"10.1016\/j.ymthe.2005.08.020_bib17","doi-asserted-by":"crossref","first-page":"1988","DOI":"10.1096\/fj.00-0014com","article-title":"Infusion of recombinant human acid sphingomyelinase into Niemann\u2013Pick disease mice leads to visceral, but not neurological, correction of the pathophysiology","volume":"14","author":"Miranda","year":"2000","journal-title":"FASEB J."},{"key":"10.1016\/j.ymthe.2005.08.020_bib18","doi-asserted-by":"crossref","first-page":"1768","DOI":"10.1038\/sj.gt.3301300","article-title":"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\u2013Pick disease","volume":"7","author":"Miranda","year":"2000","journal-title":"Gene Ther."},{"key":"10.1016\/j.ymthe.2005.08.020_bib19","doi-asserted-by":"crossref","first-page":"754","DOI":"10.1016\/j.ymthe.2005.01.011","article-title":"AAV-vector mediated correction of brain pathology in a mouse model of Niemann\u2013Pick A disease","volume":"11","author":"Passini","year":"2005","journal-title":"Mol. Ther."},{"key":"10.1016\/j.ymthe.2005.08.020_bib20","doi-asserted-by":"crossref","first-page":"987","DOI":"10.1038\/labinvest.3780311","article-title":"Analysis of the lung pathology and alveolar macrophage function in the acid sphingomyelinase-deficient mouse model of Niemann\u2013Pick disease","volume":"81","author":"Dhami","year":"2001","journal-title":"Lab. Invest."},{"key":"10.1016\/j.ymthe.2005.08.020_bib21","doi-asserted-by":"crossref","first-page":"1873","DOI":"10.1046\/j.0953-816x.2001.01564.x","article-title":"Patterned cerebellar Purkinje cell death in a transgenic mouse model of Niemann Pick type A\/B disease","volume":"13","author":"Sarna","year":"2001","journal-title":"Eur. J. Neurosci."},{"key":"10.1016\/j.ymthe.2005.08.020_bib22","doi-asserted-by":"crossref","first-page":"999","DOI":"10.1021\/ci970236v","article-title":"Homology modeling of glycosyl hydrolase family 18 enzymes and proteins","volume":"37","author":"Aronson","year":"1997","journal-title":"J. Chem. Inf. Comput. Sci."},{"key":"10.1016\/j.ymthe.2005.08.020_bib23","doi-asserted-by":"crossref","first-page":"1183","DOI":"10.1172\/JCI14862","article-title":"Intracerebral transplantation of mesenchymal stem cells into acid sphingomyelinase-deficient mice delays the onset of neurological abnormalities and extends their life span","volume":"109","author":"Jin","year":"2002","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.ymthe.2005.08.020_bib24","doi-asserted-by":"crossref","first-page":"8938","DOI":"10.1016\/S0021-9258(18)68398-X","article-title":"Induction of ferritin subunit synthesis by iron is regulated at both the transcriptional and translational levels","volume":"263","author":"White","year":"1988","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.ymthe.2005.08.020_bib25","doi-asserted-by":"crossref","first-page":"1903","DOI":"10.1002\/j.1460-2075.1991.tb07716.x","article-title":"Identification of a novel iron-responsive element in murine and human erythroid \u00e4-aminolevulinic acid synthase mRNA","volume":"10","author":"Dandekar","year":"1991","journal-title":"EMBO J."},{"key":"10.1016\/j.ymthe.2005.08.020_bib26","doi-asserted-by":"crossref","first-page":"196","DOI":"10.1006\/mgme.2000.3004","article-title":"Deficient ferritin immunoreactivity in tissues from Niemann\u2013Pick type C patients: extension of findings to fetal tissues, H and L ferritin isoforms, but also one case of the rare Niemann\u2013Pick C2 complementation group","volume":"70","author":"Christomanou","year":"2000","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymthe.2005.08.020_bib27","first-page":"404","article-title":"Adult-type Gaucher's disease: a secondary disorder of iron metabolism","volume":"37","author":"Lorber","year":"1970","journal-title":"Mt. Sinai J. Med."},{"key":"10.1016\/j.ymthe.2005.08.020_bib28","doi-asserted-by":"crossref","first-page":"4191","DOI":"10.1182\/blood-2003-04-1250","article-title":"Iron loading and erythrophagocytosis increase ferroportin 1 (FPN1) expression in J774 macrophages","volume":"102","author":"Knutson","year":"2003","journal-title":"Blood"},{"key":"10.1016\/j.ymthe.2005.08.020_bib29","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1182\/blood-2003-05-1612","article-title":"Marked elevation of the chemokine CCL18\/PARC in Gaucher disease: a novel surrogate marker for assessing therapeutic intervention","volume":"103","author":"Boot","year":"2004","journal-title":"Blood"},{"key":"10.1016\/j.ymthe.2005.08.020_bib30","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1007\/s10545-005-4416-9","article-title":"Plasma chitotriosidase and CCL18: early biochemical surrogate markers in type B Niemann\u2013Pick disease","volume":"28","author":"Brinkman","year":"2005","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymthe.2005.08.020_bib31","doi-asserted-by":"crossref","first-page":"1872","DOI":"10.4049\/jimmunol.172.3.1872","article-title":"The C10\/CCL6 chemokine and CCR1 play critical roles in the pathogenesis of IL-13-induced inflammation and remodeling","volume":"172","author":"Ma","year":"2004","journal-title":"J. Immunol."},{"key":"10.1016\/j.ymthe.2005.08.020_bib32","doi-asserted-by":"crossref","first-page":"17494","DOI":"10.1074\/jbc.270.29.17494","article-title":"Cloning and differential tissue-specific expression of three mouse beta chemokine receptor-like genes including the gene for a functional macrophage inflammatory protein-1 alpha receptor","volume":"270","author":"Gao","year":"1995","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.ymthe.2005.08.020_bib33","doi-asserted-by":"crossref","first-page":"1969","DOI":"10.1182\/blood.V96.5.1969","article-title":"Pathologic gene expression in Gaucher disease: up-regulation of cysteine proteinases including osteoclastic cathepsin K","volume":"96","author":"Moran","year":"2000","journal-title":"Blood"},{"key":"10.1016\/j.ymthe.2005.08.020_bib34","doi-asserted-by":"crossref","first-page":"392","DOI":"10.1007\/s003930050131","article-title":"Matrix metalloproteinases, but not cathepsins BH and L or their inhibitors in peripheral blood of patients with rheumatoid arthritis are potentially useful markers of disease","volume":"57","author":"Keyszer","year":"1998","journal-title":"Z. Rheumatol."},{"key":"10.1016\/j.ymthe.2005.08.020_bib35","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1046\/j.1365-2362.1996.159291.x","article-title":"Human serum amyloid A (SAA) protein: a prominent acute-phase reactant for clinical practice","volume":"26","author":"Malle","year":"1996","journal-title":"Eur. J. Clin. Invest."},{"key":"10.1016\/j.ymthe.2005.08.020_bib36","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1016\/j.bcmd.2004.08.023","article-title":"Automated system to detect low-grade underlying inflammatory profile: Gaucher disease as a model","volume":"34","author":"Rogowski","year":"2005","journal-title":"Blood Cells Mol. Dis."},{"key":"10.1016\/j.ymthe.2005.08.020_bib37","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1093\/dnares\/10.6.263","article-title":"Differential profiles of genes expressed in neonatal brain of 129X1\/SvJ and C57BL\/6J mice: a database to aid in analyzing DNA microarrays using nonisogenic gene-targeted mice","volume":"10","author":"Suzuki","year":"2003","journal-title":"DNA Res."},{"key":"10.1016\/j.ymthe.2005.08.020_bib38","doi-asserted-by":"crossref","first-page":"3994","DOI":"10.1128\/JVI.73.5.3994-4003.1999","article-title":"Gene therapy vectors based on adeno-associated virus type 1","volume":"73","author":"Xiao","year":"1999","journal-title":"J. Virol."},{"key":"10.1016\/j.ymthe.2005.08.020_bib39","doi-asserted-by":"crossref","first-page":"444","DOI":"10.1002\/1521-2254(200011\/12)2:6<444::AID-JGM132>3.0.CO;2-1","article-title":"Scaleable chromatographic purification process for recombinant adeno-associated virus","volume":"2","author":"O'Riordan","year":"2000","journal-title":"J. Gene Med."},{"key":"10.1016\/j.ymthe.2005.08.020_bib40","doi-asserted-by":"crossref","first-page":"1031","DOI":"10.1089\/10430349950018427","article-title":"Highly-purified recombinant adeno-associated virus vectors are biologically active and free of detectable helper and wild-type viruses","volume":"10","author":"Clark","year":"1999","journal-title":"Hum. Gene Ther."}],"container-title":["Molecular Therapy"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1525001605015923?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1525001605015923?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2021,7,18]],"date-time":"2021-07-18T17:28:40Z","timestamp":1626629320000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1525001605015923"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,3]]},"references-count":40,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2006,3]]}},"alternative-id":["S1525001605015923"],"URL":"https:\/\/doi.org\/10.1016\/j.ymthe.2005.08.020","relation":{},"ISSN":["1525-0016"],"issn-type":[{"value":"1525-0016","type":"print"}],"subject":[],"published":{"date-parts":[[2006,3]]}}}