{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,12]],"date-time":"2026-03-12T01:23:26Z","timestamp":1773278606659,"version":"3.50.1"},"reference-count":16,"publisher":"Elsevier BV","issue":"18","license":[{"start":{"date-parts":[[2013,12,1]],"date-time":"2013-12-01T00:00:00Z","timestamp":1385856000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,12,1]],"date-time":"2013-12-01T00:00:00Z","timestamp":1385856000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Clinical Biochemistry"],"published-print":{"date-parts":[[2013,12]]},"DOI":"10.1016\/j.clinbiochem.2013.09.004","type":"journal-article","created":{"date-parts":[[2013,9,12]],"date-time":"2013-09-12T14:45:18Z","timestamp":1378997118000},"page":"1902-1904","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":9,"title":["New T530C mutation in the aspartoacylase gene caused Canavan disease with no correlation between severity and N-acetylaspartate excretion"],"prefix":"10.1016","volume":"46","author":[{"given":"Valentina","family":"Di Pietro","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ugo","family":"Cavallari","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angela M.","family":"Amorini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giacomo","family":"Lazzarino","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Salvatore","family":"Longo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carlo","family":"Poggiani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pietro","family":"Cavalli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Barbara","family":"Tavazzi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.clinbiochem.2013.09.004_bb0005","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1016\/j.ymgme.2003.08.015","article-title":"Canavan disease: a monogenic trait with complex genomic interaction","volume":"80","author":"Surendran","year":"2003","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.clinbiochem.2013.09.004_bb0010","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1385\/JMN:15:2:61","article-title":"Canavan's spongiform leukodystrophy: a clinical anatomy of a genetic metabolic CNS disease","volume":"15","author":"Baslow","year":"2001","journal-title":"J Mol Neurosci"},{"key":"10.1016\/j.clinbiochem.2013.09.004_bb0015","doi-asserted-by":"crossref","first-page":"456","DOI":"10.1073\/pnas.0607817104","article-title":"Structure of aspartoacylase, the brain enzyme impaired in Canavan disease","volume":"104","author":"Bitto","year":"2007","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.clinbiochem.2013.09.004_bb0020","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1385\/JMN:21:3:185","article-title":"Brain N-acetylaspartate as a molecular water pump and its role in the etiology of Canavan disease: a mechanistic explanation","volume":"21","author":"Baslow","year":"2003","journal-title":"J Mol Neurosci"},{"key":"10.1016\/j.clinbiochem.2013.09.004_bb0025","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1016\/j.mce.2006.03.016","article-title":"Canavan disease and the role of N-acetylaspartate in myelin synthesis","volume":"252","author":"Namboodiri","year":"2006","journal-title":"Mol Cell Endocrinol"},{"key":"10.1016\/j.clinbiochem.2013.09.004_bb0030","doi-asserted-by":"crossref","first-page":"e161","DOI":"10.1016\/j.ejrad.2009.05.048","article-title":"Diagnostic value of proton MR spectroscopy and diffusion-weighted MR imaging in childhood inherited neurometabolic brain diseases and review of the literature","volume":"74","author":"Cakmakci","year":"2010","journal-title":"Eur J Radiol"},{"key":"10.1016\/j.clinbiochem.2013.09.004_bb0035","doi-asserted-by":"crossref","first-page":"997","DOI":"10.1016\/j.clinbiochem.2005.08.002","article-title":"Simultaneous high performance liquid chromatographic separation of purines, pyrimidines, N-acetylated amino acids, and dicarboxylic acids for the chemical diagnosis of inborn errors of metabolism","volume":"38","author":"Tavazzi","year":"2005","journal-title":"Clin Biochem"},{"key":"10.1016\/j.clinbiochem.2013.09.004_bb0040","doi-asserted-by":"crossref","first-page":"611","DOI":"10.1016\/j.clinbiochem.2008.01.021","article-title":"A new T677C mutation of the aspartoacylase gene encodes for a protein with no enzymatic activity","volume":"41","author":"Di Pietro","year":"2008","journal-title":"Clin Biochem"},{"key":"10.1016\/j.clinbiochem.2013.09.004_bb0045","doi-asserted-by":"crossref","first-page":"3484","DOI":"10.1021\/bi702400x","article-title":"Examination of the mechanism of human brain aspartoacylase through the binding of an intermediate analogue","volume":"47","author":"Le Coq","year":"2008","journal-title":"Biochemistry"},{"key":"10.1016\/j.clinbiochem.2013.09.004_bb0050","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.brainres.2007.02.069","article-title":"Mutational analysis of aspartoacylase: implications for Canavan disease","volume":"1148","author":"Hershfield","year":"2007","journal-title":"Brain Res"},{"key":"10.1016\/j.clinbiochem.2013.09.004_bb0055","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/s10545-012-9520-z","article-title":"Relationship between enzyme properties and disease progression in Canavan disease","volume":"36","author":"Zano","year":"2013","journal-title":"J Inherit Metab Dis"},{"key":"10.1016\/j.clinbiochem.2013.09.004_bb0060","doi-asserted-by":"crossref","first-page":"977","DOI":"10.1089\/08977150152693683","article-title":"N-Acetylaspartate reduction as a measure of injury severity and mitochondrial dysfunction following diffuse traumatic brain injury","volume":"18","author":"Signoretti","year":"2001","journal-title":"J Neurotrauma"},{"key":"10.1016\/j.clinbiochem.2013.09.004_bb0065","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1016\/j.pneurobio.2006.12.003","article-title":"N-Acetylaspartate in the CNS: from neurodiagnostics to neurobiology","volume":"81","author":"Moffett","year":"2007","journal-title":"Prog Neurobiol"},{"key":"10.1016\/j.clinbiochem.2013.09.004_bb0070","doi-asserted-by":"crossref","first-page":"428","DOI":"10.1002\/ana.20787","article-title":"Mild-onset presentation of Canavan's disease associated with novel G212A point mutation in aspartoacylase gene","volume":"59","author":"Janson","year":"2006","journal-title":"Ann Neurol"},{"key":"10.1016\/j.clinbiochem.2013.09.004_bb0075","doi-asserted-by":"crossref","first-page":"706","DOI":"10.1016\/j.ymgme.2011.09.031","article-title":"Chromosomal 17p13.3 microdeletion unmasking recessive Canavan disease mutation","volume":"104","author":"Cozzolino","year":"2011","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.clinbiochem.2013.09.004_bb0080","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1042\/BJ20091024","article-title":"Molecular identification of aspartate N-acetyltransferase and its mutation in hypoacetylaspartia","volume":"425","author":"Wiame","year":"2009","journal-title":"Biochem J"}],"container-title":["Clinical Biochemistry"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0009912013004335?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0009912013004335?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,14]],"date-time":"2025-09-14T15:41:53Z","timestamp":1757864513000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0009912013004335"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,12]]},"references-count":16,"journal-issue":{"issue":"18","published-print":{"date-parts":[[2013,12]]}},"alternative-id":["S0009912013004335"],"URL":"https:\/\/doi.org\/10.1016\/j.clinbiochem.2013.09.004","relation":{},"ISSN":["0009-9120"],"issn-type":[{"value":"0009-9120","type":"print"}],"subject":[],"published":{"date-parts":[[2013,12]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"New T530C mutation in the aspartoacylase gene caused Canavan disease with no correlation between severity and N-acetylaspartate excretion","name":"articletitle","label":"Article Title"},{"value":"Clinical Biochemistry","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.clinbiochem.2013.09.004","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2013 The Canadian Society of Clinical Chemists. Published by Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}