{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T22:01:58Z","timestamp":1791237718512,"version":"4.1.0"},"reference-count":26,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2022,11,1]],"date-time":"2022-11-01T00:00:00Z","timestamp":1667260800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2022,11,1]],"date-time":"2022-11-01T00:00:00Z","timestamp":1667260800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2022,9,30]],"date-time":"2022-09-30T00:00:00Z","timestamp":1664496000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["GR 4688\/2-1"],"award-info":[{"award-number":["GR 4688\/2-1"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["HE 8803\/1\\u20131"],"award-info":[{"award-number":["HE 8803\/1\\u20131"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Molecular Genetics and Metabolism"],"published-print":{"date-parts":[[2022,11]]},"DOI":"10.1016\/j.ymgme.2022.09.009","type":"journal-article","created":{"date-parts":[[2022,9,30]],"date-time":"2022-09-30T13:59:14Z","timestamp":1664546354000},"page":"273-282","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":38,"title":["Predicting clinical phenotypes of metachromatic leukodystrophy based on the arylsulfatase A activity and the ARSA genotype? \u2013 Chances and challenges"],"prefix":"10.1016","volume":"137","author":[{"given":"Vidiyaah","family":"Santhanakumaran","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samuel","family":"Groeschel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Klaus","family":"Harzer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christiane","family":"Kehrer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saskia","family":"Elg\u00fcn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefanie","family":"Beck-W\u00f6dl","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Holger","family":"Hengel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ludger","family":"Sch\u00f6ls","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tobias B.","family":"Haack","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ingeborg","family":"Kr\u00e4geloh-Mann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucia","family":"Laugwitz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ymgme.2022.09.009_bb0005","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1055\/s-0030-1253412","article-title":"Metachromatic leukodystrophy\u2014an update","volume":"41","author":"Gieselmann","year":"2010","journal-title":"Neuropediatrics"},{"key":"10.1016\/j.ymgme.2022.09.009_bb0010","article-title":"Association of age at onset and first symptoms with disease progression in patients with metachromatic leukodystrophy","author":"Kehrer","year":"2020","journal-title":"Neurology"},{"key":"10.1016\/j.ymgme.2022.09.009_bb0015","doi-asserted-by":"crossref","first-page":"850","DOI":"10.1111\/j.1469-8749.2011.04028.x","article-title":"The natural course of gross motor deterioration in metachromatic leukodystrophy","volume":"53","author":"Kehrer","year":"2011","journal-title":"Dev. Med. Child Neurol."},{"key":"10.1016\/j.ymgme.2022.09.009_bb0020","doi-asserted-by":"crossref","first-page":"156","DOI":"10.1111\/j.1469-8749.2010.03821.x","article-title":"Development and reliability of a classification system for gross motor function in children with metachromatic leucodystrophy","volume":"53","author":"Kehrer","year":"2011","journal-title":"Dev. Med. Child Neurol."},{"key":"10.1016\/j.ymgme.2022.09.009_bb0025","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1186\/1750-1172-9-18","article-title":"Language and cognition in children with metachromatic leukodystrophy: onset and natural course in a nationwide cohort","volume":"9","author":"Kehrer","year":"2014","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.ymgme.2022.09.009_bb0030","doi-asserted-by":"crossref","first-page":"555","DOI":"10.1038\/s41436-020-01017-5","article-title":"Toward newborn screening of metachromatic leukodystrophy: results from analysis of over 27,000 newborn dried blood spots","volume":"23","author":"Hong","year":"2021","journal-title":"Genet. Med."},{"key":"10.1016\/j.ymgme.2022.09.009_bb0035","doi-asserted-by":"crossref","first-page":"S2","DOI":"10.1038\/bmt.2008.275","article-title":"Metachromatic leukodystrophy: an overview of current and prospective treatments","volume":"42","author":"Biffi","year":"2008","journal-title":"Bone Marrow Transplant."},{"key":"10.1016\/j.ymgme.2022.09.009_bb0040","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1007\/s10048-020-00621-6","article-title":"Metachromatic leukodystrophy genotypes in the Netherlands reveal novel pathogenic ARSA variants in non-Caucasian patients","volume":"21","author":"Beerepoot","year":"2020","journal-title":"Neurogenetics"},{"key":"10.1016\/j.ymgme.2022.09.009_bb0045","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1111\/j.1399-0004.2008.01058.x","article-title":"Metachromatic leukodystrophy - mutation analysis provides further evidence of genotype-phenotype correlation","volume":"74","author":"Biffi","year":"2008","journal-title":"Clin. Genet."},{"key":"10.1016\/j.ymgme.2022.09.009_bb0050","doi-asserted-by":"crossref","first-page":"e255","DOI":"10.1212\/WNL.0000000000011047","article-title":"Association of age at onset and first symptoms with disease progression in patients with metachromatic Leukodystrophy","volume":"96","author":"Kehrer","year":"2021","journal-title":"Neurology"},{"key":"10.1016\/j.ymgme.2022.09.009_bb0055","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1186\/s13023-019-1113-6","article-title":"Phenotypic variation between siblings with metachromatic Leukodystrophy","volume":"14","author":"Elg\u00fcn","year":"2019","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.ymgme.2022.09.009_bb0060","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1002\/acn3.420","article-title":"Demyelination load as predictor for disease progression in juvenile metachromatic leukodystrophy","volume":"4","author":"Strolin","year":"2017","journal-title":"Ann. Clin. Transl. Neurol."},{"key":"10.1016\/j.ymgme.2022.09.009_bb0065","series-title":"Optimization of Enzyme Essays to Enhance Reliability of Activity Measurements in Leukocyte Lysates for the Diagnosis of Metachromatic Leukodystrophy and Gangliosidoses Cells","first-page":"2553","volume":"9","author":"Strobel","year":"2020"},{"key":"10.1016\/j.ymgme.2022.09.009_bb0070","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1186\/s13059-016-0974-4","article-title":"The ensembl variant effect predictor","volume":"17","author":"McLaren","year":"2016","journal-title":"Genome Biol."},{"key":"10.1016\/j.ymgme.2022.09.009_bb0075","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet. Med."},{"key":"10.1016\/j.ymgme.2022.09.009_bb0080","doi-asserted-by":"crossref","first-page":"564","DOI":"10.1002\/humu.22981","article-title":"HGVS Recommendations for the Description of Sequence Variants: 2016 Update","volume":"37","author":"den Dunnen","year":"2016","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ymgme.2022.09.009_bb0085","doi-asserted-by":"crossref","first-page":"E936","DOI":"10.1002\/humu.21093","article-title":"Characterization of new arylsulfatase a gene mutations reinforces genotype-phenotype correlation in metachromatic leukodystrophy","volume":"30","author":"Cesani","year":"2009","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ymgme.2022.09.009_bb0090","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1002\/humu.22919","article-title":"Mutation update of ARSA and PSAP genes causing metachromatic Leukodystrophy","volume":"37","author":"Cesani","year":"2016","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ymgme.2022.09.009_bb0095","doi-asserted-by":"crossref","first-page":"859","DOI":"10.1212\/01.wnl.0000234129.97727.4d","article-title":"Late-onset metachromatic leukodystrophy: genotype strongly influences phenotype","volume":"67","author":"Rauschka","year":"2006","journal-title":"Neurology"},{"key":"10.1016\/j.ymgme.2022.09.009_bb0100","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1159\/000112160","article-title":"Biochemical basis of late-onset neurolipidoses","volume":"13","author":"Conzelmann","year":"1991","journal-title":"Dev. Neurosci."},{"key":"10.1016\/j.ymgme.2022.09.009_bb0105","first-page":"292","article-title":"Extremely low arylsulfatase A enzyme activity does not necessarily cause symptoms: A long-term follow-up and review of the literature","volume":"63","author":"Laugwitz","year":"2022","journal-title":"JIMD Rep."},{"key":"10.1016\/j.ymgme.2022.09.009_bb0110","doi-asserted-by":"crossref","first-page":"372","DOI":"10.1016\/S0140-6736(21)02017-1","article-title":"Lentiviral haematopoietic stem-cell gene therapy for early-onset metachromatic leukodystrophy: long-term results from a non-randomised, open-label, phase 1\/2 trial and expanded access","volume":"399","author":"Fumagalli","year":"2022","journal-title":"Lancet"},{"key":"10.1016\/j.ymgme.2022.09.009_bb0115","doi-asserted-by":"crossref","first-page":"3812","DOI":"10.1093\/nar\/gkg509","article-title":"SIFT: Predicting amino acid changes that affect protein function","volume":"31","author":"Ng","year":"2003","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ymgme.2022.09.009_bb0120","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1038\/nmeth0410-248","article-title":"A method and server for predicting damaging missense mutations","volume":"7","author":"Adzhubei","year":"2010","journal-title":"Nat. Methods"},{"key":"10.1016\/j.ymgme.2022.09.009_bb0125","doi-asserted-by":"crossref","first-page":"2315","DOI":"10.1093\/bioinformatics\/bty960","article-title":"A plugin for the Ensembl variant effect predictor that uses MaxEntScan to predict variant spliceogenicity","volume":"35","author":"Shamsani","year":"2019","journal-title":"Bioinformatics"},{"key":"10.1016\/j.ymgme.2022.09.009_bb0130","doi-asserted-by":"crossref","first-page":"D886","DOI":"10.1093\/nar\/gky1016","article-title":"CADD: predicting the deleteriousness of variants throughout the human genome","volume":"47","author":"Rentzsch","year":"2019","journal-title":"Nucleic Acids Res."}],"updated-by":[{"DOI":"10.1016\/j.ymgme.2023.107372","type":"erratum","label":"Erratum","source":"publisher","updated":{"date-parts":[[2023,3,1]],"date-time":"2023-03-01T00:00:00Z","timestamp":1677628800000}}],"container-title":["Molecular Genetics and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S109671922200405X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S109671922200405X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T04:09:59Z","timestamp":1777608599000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S109671922200405X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,11]]},"references-count":26,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2022,11]]}},"alternative-id":["S109671922200405X"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgme.2022.09.009","relation":{},"ISSN":["1096-7192"],"issn-type":[{"value":"1096-7192","type":"print"}],"subject":[],"published":{"date-parts":[[2022,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Predicting clinical phenotypes of metachromatic leukodystrophy based on the arylsulfatase A activity and the ARSA genotype? \u2013 Chances and challenges","name":"articletitle","label":"Article Title"},{"value":"Molecular Genetics and Metabolism","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ymgme.2022.09.009","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2022 The Authors. Published by Elsevier Inc.","name":"copyright","label":"Copyright"}]}}