{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,20]],"date-time":"2026-10-20T01:55:25Z","timestamp":1792461325420,"version":"4.5.0"},"reference-count":140,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"name":"Contract grant sponsor:"},{"name":"Telethon Network of Genetic Biobanks","award":["GTB12001"],"award-info":[{"award-number":["GTB12001"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Human Mutation"],"published-print":{"date-parts":[[2016,1]]},"DOI":"10.1002\/humu.22919","type":"journal-article","created":{"date-parts":[[2015,10,14]],"date-time":"2015-10-14T05:07:22Z","timestamp":1444799242000},"page":"16-27","source":"Crossref","is-referenced-by-count":134,"title":["Mutation Update of\n                    <i>ARSA<\/i>\n                    and\n                    <i>PSAP<\/i>\n                    Genes Causing Metachromatic Leukodystrophy"],"prefix":"10.1155","volume":"37","author":[{"given":"Martina","family":"Cesani","sequence":"first","affiliation":[{"name":"San Raffaele Telethon Institute for Gene Therapy; Division of Regenerative Medicine; Stem Cells and Gene Therapy; San Raffaele Scientific Institute; Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Lorioli","sequence":"additional","affiliation":[{"name":"San Raffaele Telethon Institute for Gene Therapy; Division of Regenerative Medicine; Stem Cells and Gene Therapy; San Raffaele Scientific Institute; Milan Italy"},{"name":"Vita-Salute San Raffaele University; Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Serena","family":"Grossi","sequence":"additional","affiliation":[{"name":"Centro di Diagnostica Genetica e Biochimica delle Malattie Metaboliche; Istituto G. Gaslini; Genova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giulia","family":"Amico","sequence":"additional","affiliation":[{"name":"Centro di Diagnostica Genetica e Biochimica delle Malattie Metaboliche; Istituto G. Gaslini; Genova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Fumagalli","sequence":"additional","affiliation":[{"name":"San Raffaele Telethon Institute for Gene Therapy; Division of Regenerative Medicine; Stem Cells and Gene Therapy; San Raffaele Scientific Institute; Milan Italy"},{"name":"Neurology Department; Division of Neuroscience; San Raffaele Scientific Institute; Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ivana","family":"Spiga","sequence":"additional","affiliation":[{"name":"Clinical Molecular Biology Laboratory; San Raffaele Hospital; Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mirella","family":"Filocamo","sequence":"additional","affiliation":[{"name":"Centro di Diagnostica Genetica e Biochimica delle Malattie Metaboliche; Istituto G. Gaslini; Genova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandra","family":"Biffi","sequence":"additional","affiliation":[{"name":"San Raffaele Telethon Institute for Gene Therapy; Division of Regenerative Medicine; Stem Cells and Gene Therapy; San Raffaele Scientific Institute; Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,11,4]]},"reference":[{"key":"10.1002\/humu.22919-BIB0001|humu22919-cit-0001","doi-asserted-by":"crossref","DOI":"10.1097\/00005072-199812000-00014","volume-title":"Disease of the nervous system in childhood","author":"Aicard\u00ec","year":"1998"},{"key":"10.1002\/humu.22919-BIB0002|humu22919-cit-0002","doi-asserted-by":"crossref","first-page":"1513","DOI":"10.1177\/0883073809341269","article-title":"Sphingolipid activator protein B deficiency: report of 9 Saudi patients and review of the literature","volume":"24","author":"Al-Hassnan","year":"2009","journal-title":"J Child Neurol"},{"key":"10.1002\/humu.22919-BIB0003|humu22919-cit-0003","doi-asserted-by":"crossref","first-page":"383","DOI":"10.1017\/S001216220600082X","article-title":"Atypical clinical course in juvenile metachromatic leukodystrophy involving novel arylsulfatase A gene mutations","volume":"48","author":"Anlar","year":"2006","journal-title":"Dev Med Child Neurol"},{"key":"10.1002\/humu.22919-BIB0004|humu22919-cit-0004","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1016\/S0887-8994(00)00164-8","article-title":"Variable onset of metachromatic leukodystrophy in a Vietnamese family","volume":"23","author":"Arbour","year":"2000","journal-title":"Pediatr Neurol"},{"key":"10.1002\/humu.22919-BIB0005|humu22919-cit-0005","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1016\/j.cca.2013.12.016","article-title":"Quantification of sulfatides in dried blood and urine spots from metachromatic leukodystrophy patients by liquid chromatography\/electrospray tandem mass spectrometry","volume":"433","author":"Barcenas","year":"2014","journal-title":"Clin Chim Acta"},{"key":"10.1002\/humu.22919-BIB0006|humu22919-cit-0006","doi-asserted-by":"crossref","first-page":"2117","DOI":"10.1093\/hmg\/2.12.2117","article-title":"Missense mutations in the arylsulphatase A genes of metachromatic leukodystrophy patients","volume":"2","author":"Barth","year":"1993","journal-title":"Hum Mol Genet"},{"key":"10.1002\/humu.22919-BIB0007|humu22919-cit-0007","doi-asserted-by":"crossref","first-page":"170","DOI":"10.1002\/humu.1380060210","article-title":"Identification of seven novel mutations associated with metachromatic leukodystrophy","volume":"6","author":"Barth","year":"1995","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.22919-BIB0008|humu22919-cit-0008","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1016\/0009-8981(59)90119-6","article-title":"The assay of arylsulpahatases A and B in human urine","volume":"4","author":"Baum","year":"1959","journal-title":"Clin Chim Acta"},{"key":"10.1002\/humu.22919-BIB0009|humu22919-cit-0009","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1016\/S0928-4257(02)00019-0","article-title":"Motor and psycho-cognitive clinical types in adult metachromatic leukodystrophy: genotype\/phenotype relationships","volume":"96","author":"Baumann","year":"2002","journal-title":"J Physiol Paris"},{"key":"10.1002\/humu.22919-BIB0010|humu22919-cit-0010","doi-asserted-by":"crossref","first-page":"348","DOI":"10.1007\/s004390050221","article-title":"A new polymorphism of arylsulfatase A within the coding region","volume":"98","author":"Berger","year":"1996","journal-title":"Hum Genet"},{"key":"10.1002\/humu.22919-BIB0011|humu22919-cit-0011","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1002\/(SICI)1098-1004(1999)13:1<61::AID-HUMU7>3.0.CO;2-H","article-title":"Coincidence of two novel arylsulfatase A alleles and mutation 459+1G>A within a family with metachromatic leukodystrophy: molecular basis of phenotypic heterogeneity","volume":"13","author":"Berger","year":"1999","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.22919-BIB0012|humu22919-cit-0012","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1002\/(SICI)1096-8628(19970331)69:3<335::AID-AJMG22>3.0.CO;2-R","article-title":"Occurrence, distribution, and phenotype of arylsulfatase A mutations in patients with metachromatic leukodystrophy","volume":"69","author":"Berger","year":"1997","journal-title":"Am J Med Genet A"},{"key":"10.1002\/humu.22919-BIB0013|humu22919-cit-0013","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1002\/ajmg.a.30118","article-title":"Novel mutations associated with metachromatic leukodystrophy: phenotype and expression studies in nine Czech and Slovak patients","volume":"129A","author":"Berna","year":"2004","journal-title":"Am J Med Genet A"},{"key":"10.1002\/humu.22919-BIB0014|humu22919-cit-0014","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1016\/j.jocn.2005.03.039","article-title":"Novel mutations in the arylsulfatase A gene in eight Italian families with metachromatic leukodystrophy","volume":"13","author":"Bertelli","year":"2006","journal-title":"J Clin Neurosci"},{"key":"10.1002\/humu.22919-BIB0015|humu22919-cit-0015","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":"10.1002\/humu.22919-BIB0016|humu22919-cit-0016","doi-asserted-by":"crossref","first-page":"1233158","DOI":"10.1126\/science.1233158","article-title":"Lentiviral hematopoietic stem cell gene therapy benefits metachromatic leukodystrophy","volume":"341","author":"Biffi","year":"2013","journal-title":"Science"},{"key":"10.1002\/humu.22919-BIB0017|humu22919-cit-0017","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1111\/j.1399-0004.2008.01113.x","article-title":"Chromosomal deletion unmasking a recessive disease: 22q13 deletion syndrome and metachromatic leukodystrophy","volume":"75","author":"Bisgaard","year":"2009","journal-title":"Clin Genet"},{"key":"10.1002\/humu.22919-BIB0018|humu22919-cit-0018","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1007\/BF00204172","article-title":"An 11-bp deletion in the arylsulfatase A gene of a patient with late infantile metachromatic leukodystrophy","volume":"87","author":"Bohne","year":"1991","journal-title":"Hum Genet"},{"key":"10.1002\/humu.22919-BIB0019|humu22919-cit-0019","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":"10.1002\/humu.22919-BIB0020|humu22919-cit-0020","doi-asserted-by":"crossref","first-page":"108","DOI":"10.1002\/ana.1076","article-title":"Late-onset metachromatic leukodystrophy clinically presenting as isolated peripheral neuropathy: compound heterozygosity for the IVS2+1G\u2192A mutation and a newly identified missense mutation (Thr408Ile) in a Spanish family","volume":"50","author":"Comabella","year":"2001","journal-title":"Ann Neurol"},{"key":"10.1002\/humu.22919-BIB0021|humu22919-cit-0021","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1002\/(SICI)1096-8628(19971128)73:1<32::AID-AJMG7>3.0.CO;2-R","article-title":"Two new polymorphisms in the arylsulfatase A gene and their haplotype associations with normal, metachromatic leukodystrophy and pseudodeficiency alleles","volume":"73","author":"Coulter-Mackie","year":"1997","journal-title":"Am J Med Genet A"},{"key":"10.1002\/humu.22919-BIB0022|humu22919-cit-0022","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1017\/S0317167100120931","article-title":"Isolated peripheral neuropathy in atypical metachromatic leukodystrophy: a recurrent mutation","volume":"29","author":"Coulter-Mackie","year":"2002","journal-title":"Can J Neurol"},{"key":"10.1002\/humu.22919-BIB0023|humu22919-cit-0023","doi-asserted-by":"crossref","first-page":"S254","DOI":"10.1002\/humu.1380110181","article-title":"Two novel mutations in the arylsulfatase A gene associated with juvenile (R390Q) and adult onset (H397Y) metachromatic leukodystrophy","volume":"1","author":"Coulter-Mackie","year":"1998","journal-title":"Hum Mutat Suppl"},{"key":"10.1002\/humu.22919-BIB0024|humu22919-cit-0024","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1016\/S1096-7192(03)00077-5","article-title":"Spectrum of mutations in the arylsulfatase A gene in a Canadian DNA collection including two novel frameshift mutations, a new missense mutation (C488R) and an MLD mutation (R84Q) in cis with a pseudodeficiency allele","volume":"79","author":"Coulter-Mackie","year":"2003","journal-title":"Mol Genet Metab"},{"key":"10.1002\/humu.22919-BIB0025|humu22919-cit-0025","doi-asserted-by":"crossref","first-page":"493","DOI":"10.1136\/jmg.34.6.493","article-title":"Metachromatic leucodystrophy in three families from Nova Scotia, Canada: a recurring mutation in the arylsulphatase A gene","volume":"34","author":"Coulter-Mackie","year":"1997","journal-title":"J Med Genet"},{"key":"10.1002\/humu.22919-BIB0026|humu22919-cit-0026","doi-asserted-by":"crossref","first-page":"E15","DOI":"10.1136\/jmg.38.5.e15","article-title":"Multiple metachromatic leucodystrophy alleles in an unaffected subject: a case of dispermic chimaerism","volume":"38","author":"Coulter-Mackie","year":"2001","journal-title":"J Med Genet"},{"key":"10.1002\/humu.22919-BIB0027|humu22919-cit-0027","doi-asserted-by":"crossref","first-page":"787","DOI":"10.1136\/jmg.32.10.787","article-title":"Metachromatic leucodystrophy (MLD) in a patient with a constitutional ring chromosome 22","volume":"32","author":"Coulter-Mackie","year":"1995","journal-title":"J Med Genet"},{"key":"10.1002\/humu.22919-BIB0028|humu22919-cit-0028","doi-asserted-by":"crossref","first-page":"46","DOI":"10.1016\/j.ejpn.2007.05.004","article-title":"Metachromatic leukodystrophy without arylsulfatase A deficiency: a new case of saposin-B deficiency","volume":"12","author":"Deconinck","year":"2008","journal-title":"Eur J Paediatr Neurol"},{"key":"10.1002\/humu.22919-BIB0029|humu22919-cit-0029","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1007\/s004390100505","article-title":"Nomenclature for the description of human sequence variations","volume":"109","author":"den Dunnen","year":"2001","journal-title":"Hum Genet"},{"key":"10.1002\/humu.22919-BIB0030|humu22919-cit-0030","doi-asserted-by":"crossref","first-page":"278","DOI":"10.1016\/j.jns.2009.07.023","article-title":"Identification of a new Arylsulfatase A (ARSA) gene mutation Tunisian patients with metachromatic leukodystrophy (MLD)","volume":"287","author":"Dorboz","year":"2009","journal-title":"J Neurol Sci"},{"key":"10.1002\/humu.22919-BIB0031|humu22919-cit-0031","doi-asserted-by":"crossref","first-page":"234","DOI":"10.1002\/(SICI)1098-1004(1997)9:3<234::AID-HUMU4>3.0.CO;2-7","article-title":"Metachromatic leukodystrophy: identification of the first deletion in exon 1 and of nine novel point mutations in the arylsulfatase A gene","volume":"9","author":"Draghia","year":"1997","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.22919-BIB0032|humu22919-cit-0032","doi-asserted-by":"crossref","first-page":"1382","DOI":"10.1016\/S0140-6736(05)65446-3","article-title":"Late-presenting metachromatic leukodystrophy","volume":"348","author":"Duyff","year":"1996","journal-title":"Lancet"},{"key":"10.1002\/humu.22919-BIB0033|humu22919-cit-0033","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1002\/ajmg.a.30085","article-title":"Infantile metachromatic leukodystrophy (MLD) in a compound heterozygote for the c.459 + 1G >A mutation and a complete deletion of the ARSA gene","volume":"128A","author":"Eng","year":"2004","journal-title":"Am J Med Genet A"},{"key":"10.1002\/humu.22919-BIB0034|humu22919-cit-0034","doi-asserted-by":"crossref","first-page":"418","DOI":"10.1002\/humu.9190","article-title":"Identification of nine novel arylsulfatase a (ARSA) gene mutations in patients with metachromatic leukodystrophy (MLD)","volume":"22","author":"Eng","year":"2003","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.22919-BIB0035|humu22919-cit-0035","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1007\/BF00926869","article-title":"Molecular characteristics in Japanese patients with lipidosis: novel mutations in metachromatic leukodystrophy and Gaucher disease","volume":"119","author":"Eto","year":"1993","journal-title":"Mol Cell Biochem"},{"key":"10.1002\/humu.22919-BIB0036|humu22919-cit-0036","doi-asserted-by":"crossref","first-page":"1036","DOI":"10.1212\/WNL.55.7.1036","article-title":"Adult-onset MLD: a gene mutation with isolated polyneuropathy","volume":"55","author":"Felice","year":"2000","journal-title":"Neurology"},{"key":"10.1002\/humu.22919-BIB0037|humu22919-cit-0037","volume-title":"Arylsulfatase A deficiency","author":"Fluharty","year":"1993-2014"},{"key":"10.1002\/humu.22919-BIB0038|humu22919-cit-0038","first-page":"1340","article-title":"Two new arylsulfatase A (ARSA) mutations in a juvenile metachromatic leukodystrophy (MLD) patient","volume":"49","author":"Fluharty","year":"1991","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.22919-BIB0039|humu22919-cit-0039","doi-asserted-by":"crossref","first-page":"557","DOI":"10.1002\/humu.21438","article-title":"LOVD v.2.0: the next generation in gene variant databases","volume":"35","author":"Fokkema","year":"2011","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.22919-BIB0040|humu22919-cit-0040","doi-asserted-by":"crossref","first-page":"425","DOI":"10.1046\/j.1440-1819.1999.00569.x","article-title":"Adult-type metachromatic leukodystrophy with a compound heterozygote mutation showing character change and dementia","volume":"53","author":"Fukutani","year":"1999","journal-title":"Psychiatry Clin Neurosci"},{"key":"10.1002\/humu.22919-BIB0041|humu22919-cit-0041","doi-asserted-by":"crossref","first-page":"284","DOI":"10.1007\/s12031-013-0006-8","article-title":"An Italian cohort study identifies four new pathologic mutations in the ARSA gene","volume":"50","author":"Galla","year":"2013","journal-title":"J Mol Neurosci"},{"key":"10.1002\/humu.22919-BIB0042|humu22919-cit-0042","doi-asserted-by":"crossref","first-page":"655","DOI":"10.1136\/jnnp.2003.017400","article-title":"Late onset MLD with normal nerve conduction associated with two novel missense mutations in the ASA gene","volume":"75","author":"Gallo","year":"2004","journal-title":"J Neurol Neurosurg Psychiatr"},{"issue":"2","key":"10.1002\/humu.22919-BIB0140|humu22919-cit-0140","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1373\/clinchem.2014.225771","article-title":"Newborn screening for lysosomal storage diseases","volume":"61","author":"Gelb","year":"2015","journal-title":"Clin Chem."},{"key":"10.1002\/humu.22919-BIB0043|humu22919-cit-0043","first-page":"407","article-title":"Mutations in the arylsulfatase A pseudodeficiency allele causing metachromatic leukodystrophy","volume":"49","author":"Gieselmann","year":"1991","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.22919-BIB0044|humu22919-cit-0044","doi-asserted-by":"crossref","first-page":"9436","DOI":"10.1073\/pnas.86.23.9436","article-title":"Arylsulfatase A pseudodeficiency: loss of a polyadenylylation signal and N-glycosylation site","volume":"86","author":"Gieselmann","year":"1989","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1002\/humu.22919-BIB0045|humu22919-cit-0045","doi-asserted-by":"crossref","first-page":"13262","DOI":"10.1016\/S0021-9258(18)42204-1","article-title":"In vitro mutagenesis of potential N-glycosylation sites of arylsulfatase A. Effects on glycosylation, phosphorylation, and intracellular sorting","volume":"267","author":"Gieselmann","year":"1992","journal-title":"J Biol Chem"},{"key":"10.1002\/humu.22919-BIB0046|humu22919-cit-0046","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1002\/humu.1380040402","article-title":"Molecular genetics of metachromatic leukodystrophy","volume":"4","author":"Gieselmann","year":"1994","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.22919-BIB0047|humu22919-cit-0047","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1007\/s004390050721","article-title":"Molecular genetic characterization of two metachromatic leukodystrophy patients who carry the T799G mutation and show different phenotypes; description of a novel null-type mutation","volume":"102","author":"Gomez-Lira","year":"1998","journal-title":"Hum Genet"},{"key":"10.1002\/humu.22919-BIB0048|humu22919-cit-0048","doi-asserted-by":"crossref","first-page":"240","DOI":"10.1002\/(SICI)1098-1004(1999)14:3<240::AID-HUMU7>3.0.CO;2-L","article-title":"Identification of 12 novel mutations and two new polymorphisms in the arylsulfatase A gene: haplotype and genotype-phenotype correlation studies in Spanish metachromatic leukodystrophy patients","volume":"14","author":"Gort","year":"1999","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.22919-BIB0049|humu22919-cit-0049","doi-asserted-by":"crossref","first-page":"375","DOI":"10.1002\/1098-1004(200010)16:4<375::AID-HUMU21>3.0.CO;2-C","article-title":"Metachromatic leukodystrophy: a novel mutation (c237delC) and extension of the haplotype associated with the P426L mutation","volume":"16","author":"Gort","year":"2000","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.22919-BIB0050|humu22919-cit-0050","doi-asserted-by":"crossref","first-page":"E220","DOI":"10.1002\/humu.20851","article-title":"Molecular analysis of ARSA and PSAP genes in twenty-one Italian patients with metachromatic leukodystrophy: identification and functional characterization of 11 novel ARSA alleles","volume":"29","author":"Grossi","year":"2008","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.22919-BIB0051|humu22919-cit-0051","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1002\/ana.410120106","article-title":"A variant form of metachromatic leukodystrophy without arylsulfatase deficiency","volume":"12","author":"Hahn","year":"1982","journal-title":"Ann Neurol"},{"key":"10.1002\/humu.22919-BIB0052|humu22919-cit-0052","doi-asserted-by":"crossref","first-page":"447","DOI":"10.1002\/(SICI)1098-1004(199911)14:5<447::AID-HUMU12>3.0.CO;2-1","article-title":"Metachromatic leucodystrophy: a newly identified mutation in arylsulphatase A, D281Y, found as a compound heterozygote with I179L in an adult onset case","volume":"14","author":"Halsall","year":"1999","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.22919-BIB0053|humu22919-cit-0053","doi-asserted-by":"crossref","first-page":"587","DOI":"10.1002\/rcm.6823","article-title":"Ultra-performance liquid chromatography\/tandem mass spectrometry for determination of sulfatides in dried blood spots from patients with metachromatic leukodystrophy","volume":"28","author":"Han","year":"2014","journal-title":"Rapid Commun Mass Spectrom"},{"key":"10.1002\/humu.22919-BIB0054|humu22919-cit-0054","doi-asserted-by":"crossref","first-page":"1215","DOI":"10.1093\/hmg\/7.8.1215","article-title":"Importance of the glycosylation and polyadenylation variants in metachromatic leukodystrophy pseudodeficiency phenotype","volume":"7","author":"Harvey","year":"1998","journal-title":"Hum Mol Genet"},{"key":"10.1002\/humu.22919-BIB0055|humu22919-cit-0055","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1093\/hmg\/3.1.207","article-title":"Metachromatic leukodystrophy: a nonsense mutation (Q486X) in the arylsulphatase A (ARSA) gene","volume":"3","author":"Harvey","year":"1994","journal-title":"Hum Mol Genet"},{"key":"10.1002\/humu.22919-BIB0056|humu22919-cit-0056","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1002\/humu.1380020405","article-title":"An arylsulfatase A (ARSA) missense mutation (T274M) causing late-infantile metachromatic leukodystrophy","volume":"2","author":"Harvey","year":"1993","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.22919-BIB0057|humu22919-cit-0057","doi-asserted-by":"crossref","first-page":"493","DOI":"10.1089\/dna.1993.12.493","article-title":"Mutations in the arylsulfatase A gene of Japanese patients with metachromatic leukodystrophy","volume":"12","author":"Hasegawa","year":"1993","journal-title":"DNA Cell Biol"},{"key":"10.1002\/humu.22919-BIB0058|humu22919-cit-0058","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1007\/BF00201666","article-title":"Single exon mutation in arylsulfatase A gene has two effects: loss of enzyme activity and aberrant splicing","volume":"93","author":"Hasegawa","year":"1994","journal-title":"Hum Genet"},{"key":"10.1002\/humu.22919-BIB0059|humu22919-cit-0059","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1111\/j.1440-1819.2010.02169.x","article-title":"Adult-type metachromatic leukodystrophy with compound heterozygous ARSA mutations: a case report and phenotypic comparison with a previously reported case","volume":"65","author":"Hayashi","year":"2011","journal-title":"Psychiatr Clin Neurosci"},{"key":"10.1002\/humu.22919-BIB0060|humu22919-cit-0060","first-page":"51","article-title":"Multiple mutations are responsible for the high frequency of metachromatic leukodystrophy in a small geographic area","volume":"56","author":"Heinisch","year":"1995","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.22919-BIB0061|humu22919-cit-0061","first-page":"65","article-title":"Analysis of a splice-site mutation in the sap-precursor gene of a patient with metachromatic leukodystrophy","volume":"58","author":"Henseler","year":"1996","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.22919-BIB0062|humu22919-cit-0062","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1002\/(SICI)1096-8628(20000306)91:1<68::AID-AJMG13>3.0.CO;2-G","article-title":"Characterization of four arylsulfatase A missense mutations G86D, Y201C, D255H, and E312D causing metachromatic leukodystrophy","volume":"91","author":"Hermann","year":"2000","journal-title":"Am J Med Genet A"},{"key":"10.1002\/humu.22919-BIB0063|humu22919-cit-0063","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1002\/(SICI)1098-1004(1996)7:4<311::AID-HUMU4>3.0.CO;2-B","article-title":"Characterization of two arylsulfatase A missense mutations D335V and T274M causing late infantile metachromatic leukodystrophy","volume":"7","author":"Hess","year":"1996","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.22919-BIB0064|humu22919-cit-0064","doi-asserted-by":"crossref","first-page":"7556","DOI":"10.1016\/S0021-9258(20)89483-6","article-title":"Sulfatide activator protein. Alternative splicing that generates three mRNAs and a newly found mutation responsible for a clinical disease","volume":"266","author":"Holtschmidt","year":"1991","journal-title":"J Biol Chem"},{"key":"10.1002\/humu.22919-BIB0065|humu22919-cit-0065","doi-asserted-by":"crossref","first-page":"451","DOI":"10.1007\/BF00216449","article-title":"An adult-type metachromatic leukodystrophy caused by substitution of serine for glycine-122 in arylsulfatase A","volume":"92","author":"Honke","year":"1993","journal-title":"Hum Genet"},{"key":"10.1002\/humu.22919-BIB0066|humu22919-cit-0066","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1111\/j.1440-1819.2008.01896.x","article-title":"A case of adult onset metachromatic leukodystrophy","volume":"63","author":"Ito","year":"2009","journal-title":"Psychiatr Clin Neurosci"},{"key":"10.1002\/humu.22919-BIB0067|humu22919-cit-0067","first-page":"907","article-title":"Gene symbol: MLH1","volume":"120","author":"Kadiyska","year":"2007","journal-title":"Hum Genet"},{"key":"10.1002\/humu.22919-BIB0068|humu22919-cit-0068","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1007\/BF00209402","article-title":"A missense mutation P136L in the arylsulfatase A gene causes instability and loss of activity of the mutant enzyme","volume":"95","author":"Kafert","year":"1995","journal-title":"Hum Genet"},{"key":"10.1002\/humu.22919-BIB0069|humu22919-cit-0069","doi-asserted-by":"crossref","first-page":"516","DOI":"10.3343\/kjlm.2010.30.5.516","article-title":"Identification of a novel splicing mutation in the ARSA gene in a patient with late-infantile form of metachromatic leukodystrophy","volume":"30","author":"Kang","year":"2010","journal-title":"Korean J Lab Med"},{"key":"10.1002\/humu.22919-BIB0070|humu22919-cit-0070","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1002\/humu.1380040205","article-title":"Complex arylsulfatase A alleles causing metachromatic leukodystrophy","volume":"4","author":"Kappler","year":"1994","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.22919-BIB0071|humu22919-cit-0071","doi-asserted-by":"crossref","first-page":"256","DOI":"10.1002\/ana.410310305","article-title":"Late-onset metachromatic leukodystrophy: molecular pathology in two siblings","volume":"31","author":"Kappler","year":"1992","journal-title":"Ann Neurol"},{"key":"10.1002\/humu.22919-BIB0072|humu22919-cit-0072","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1007\/BF00314905","article-title":"Adult-onset metachromatic leucodystrophy presenting without psychiatric symptoms","volume":"236","author":"Klemm","year":"1989","journal-title":"J Neurol"},{"key":"10.1002\/humu.22919-BIB0073|humu22919-cit-0073","unstructured":"Kolodny E Fluarthy A 2001 Metachromatic Leukodystrophy and multiple sulfatase deficency: sulfatide lipidosis New York McGraw-Hill Professional"},{"key":"10.1002\/humu.22919-BIB0074|humu22919-cit-0074","first-page":"230","volume-title":"The molecular and genetic basis of neurologic and psychiatric disease","author":"Kolodny","year":"2007"},{"key":"10.1002\/humu.22919-BIB0075|humu22919-cit-0075","first-page":"971","article-title":"Identification of a mutation in the arylsulfatase A gene of a patient with adult-type metachromatic leukodystrophy","volume":"48","author":"Kondo","year":"1991","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.22919-BIB0076|humu22919-cit-0076","doi-asserted-by":"crossref","first-page":"2541","DOI":"10.1073\/pnas.87.7.2541","article-title":"Characterization of a mutation in a family with saposin B deficiency: a glycosylation site defect","volume":"87","author":"Kretz","year":"1990","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1002\/humu.22919-BIB0077|humu22919-cit-0077","first-page":"339","article-title":"High residual arylsulfatase A (ARSA) activity in a patient with late-infantile metachromatic leukodystrophy","volume":"53","author":"Kreysing","year":"1993","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.22919-BIB0078|humu22919-cit-0078","doi-asserted-by":"crossref","first-page":"613","DOI":"10.1002\/ajmg.a.32712","article-title":"Prosaposin deficiency and saposin B deficiency (activator-deficient metachromatic leukodystrophy): report on two patients detected by analysis of urinary sphingolipids and carrying novel PSAP gene mutations","volume":"149A","author":"Kuchar","year":"2009","journal-title":"Am J Med Genet Part A"},{"key":"10.1002\/humu.22919-BIB0079|humu22919-cit-0079","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1097\/YPG.0b013e3280298280","article-title":"Adult metachromatic leukodystrophy: a new mutation in the schizophrenia-like phenotype with early neurological signs","volume":"17","author":"Kumperscak","year":"2007","journal-title":"Psychiatr Genet"},{"key":"10.1002\/humu.22919-BIB0080|humu22919-cit-0080","doi-asserted-by":"crossref","first-page":"781","DOI":"10.1023\/A:1005405418215","article-title":"Prevalence of arylsulphatase A mutations in 11 Japanese patients with metachromatic leukodystrophy: identification of two novel mutations","volume":"21","author":"Kurosawa","year":"1998","journal-title":"J Inherit Metab Dis"},{"key":"10.1002\/humu.22919-BIB0081|humu22919-cit-0081","doi-asserted-by":"crossref","first-page":"782","DOI":"10.1007\/BF01799173","article-title":"A D255H substitution in the arylsulphatase A gene of two unrelated Belgian patients with late-infantile metachromatic leukodystrophy","volume":"19","author":"Lissens","year":"1996","journal-title":"J Inherit Metab Dis"},{"key":"10.1002\/humu.22919-BIB0082|humu22919-cit-0082","doi-asserted-by":"crossref","first-page":"348","DOI":"10.1016\/j.gene.2013.11.062","article-title":"Critical issues for the proper diagnosis of Metachromatic Leukodystrophy","volume":"537","author":"Lorioli","year":"2014","journal-title":"Gene"},{"key":"10.1002\/humu.22919-BIB0083|humu22919-cit-0083","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1016\/j.ymgme.2005.07.010","article-title":"Mutations c.459+1G>A and p.P426L in the ARSA gene: prevalence in metachromatic leukodystrophy patients from European countries","volume":"86","author":"Lugowska","year":"2005a","journal-title":"Mol Genet Metab"},{"key":"10.1002\/humu.22919-BIB0084|humu22919-cit-0084","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1111\/j.1399-0004.2005.00451.x","article-title":"Molecular and phenotypic characteristics of metachromatic leukodystrophy patients from Poland","volume":"68","author":"Lugowska","year":"2005b","journal-title":"Clin Genet"},{"key":"10.1002\/humu.22919-BIB0085|humu22919-cit-0085","doi-asserted-by":"crossref","first-page":"214","DOI":"10.1016\/j.jns.2013.12.030","article-title":"A homozygote for the c.459+1G>A mutation in the ARSA gene presents with cerebellar ataxia as the only first clinical sign of metachromatic leukodystrophy","volume":"338","author":"Lugowska","year":"2014","journal-title":"J Neurol Sci"},{"key":"10.1002\/humu.22919-BIB0086|humu22919-cit-0086","doi-asserted-by":"crossref","first-page":"394","DOI":"10.1038\/jhg.2010.25","article-title":"Molecular bases of metachromatic leukodystrophy in Polish patients","volume":"55","author":"Lugowska","year":"2010","journal-title":"J Hum Genet"},{"key":"10.1002\/humu.22919-BIB0087|humu22919-cit-0087","first-page":"337","article-title":"Homozygote for mutation c.1204 + 1G >A of the ARSA gene presents with a late-infantile form of metachromatic leukodystrophy and a rare MRI white matter lesion type","volume":"46","author":"Lugowska","year":"2005","journal-title":"J Appl Genet"},{"key":"10.1002\/humu.22919-BIB0088|humu22919-cit-0088","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1111\/j.1399-0004.2008.01108.x","article-title":"Molecular and clinical consequences of novel mutations in the arylsulfatase A gene","volume":"75","author":"Lugowska","year":"2009","journal-title":"Clin Genet"},{"key":"10.1002\/humu.22919-BIB0089|humu22919-cit-0089","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1007\/BF00210424","article-title":"Metachromatic leukodystrophy: a 12-bp deletion in exon 2 of the arylsulfatase A gene in a late infantile variant","volume":"96","author":"Luyten","year":"1995","journal-title":"Hum Genet"},{"key":"10.1002\/humu.22919-BIB0090|humu22919-cit-0090","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1016\/j.gene.2013.08.065","article-title":"Sixteen novel mutations in the arylsulfatase A gene causing metachromatic leukodystrophy","volume":"530","author":"Luzi","year":"2013","journal-title":"Gene"},{"key":"10.1002\/humu.22919-BIB0091|humu22919-cit-0091","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1002\/(SICI)1098-1004(1999)13:4<337::AID-HUMU14>3.0.CO;2-9","article-title":"Metachromatic leucodystrophy in Portugal-finding of four new molecular lesions: C300F, P425T, g.1190-1191insC, and g.2408delC. Mutations in brief no. 232. Online","volume":"13","author":"Marcao","year":"1999","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.22919-BIB0092|humu22919-cit-0092","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1016\/S0006-291X(03)00969-0","article-title":"Oligomerization capacity of two arylsulfatase A mutants: C300F and P425T","volume":"306","author":"Marcao","year":"2003","journal-title":"Biochem Biophys Res Commun"},{"key":"10.1002\/humu.22919-BIB0093|humu22919-cit-0093","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1002\/ajmg.a.10822","article-title":"Biochemical characterization of two (C300F, P425T) arylsulfatase a missense mutations","volume":"116A","author":"Marcao","year":"2003","journal-title":"Am J Med Genet A"},{"key":"10.1002\/humu.22919-BIB0094|humu22919-cit-0094","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1001\/archneur.62.2.309","article-title":"Adult onset metachromatic leukodystrophy without electroclinical peripheral nervous system involvement: a new mutation in the ARSA gene","volume":"62","author":"Marcao","year":"2005","journal-title":"Arch Neurol"},{"key":"10.1002\/humu.22919-BIB0095|humu22919-cit-0095","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1002\/ddrr.1117","article-title":"Newborn screening for lysosomal storage disorders and other neuronopathic conditions","volume":"17","author":"Matern","year":"2013","journal-title":"Dev Disabil Res Rev"},{"issue":"4","key":"10.1002\/humu.22919-BIB0139|humu22919-cit-0139","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1016\/j.ymgme.2006.02.013","article-title":"Newborn screening for lysosomal storage disorders","volume":"88","author":"Meikle","year":"2006","journal-title":"Mol Genet Metab."},{"key":"10.1002\/humu.22919-BIB0096|humu22919-cit-0096","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1093\/oxfordjournals.jbchem.a122629","article-title":"Structure of full-length cDNA coding for sulfatide activator, a Co-beta-glucosidase and two other homologous proteins: two alternate forms of the sulfatide activator","volume":"105","author":"Nakano","year":"1989","journal-title":"J Biochem"},{"key":"10.1002\/humu.22919-BIB0097|humu22919-cit-0097","doi-asserted-by":"crossref","first-page":"687","DOI":"10.1038\/jhg.2012.97","article-title":"Paternal uniparental isodisomy of chromosome 22 in a patient with metachromatic leukodystrophy","volume":"57","author":"Niida","year":"2012","journal-title":"J Hum Genet"},{"key":"10.1002\/humu.22919-BIB0098|humu22919-cit-0098","doi-asserted-by":"crossref","first-page":"360","DOI":"10.1016\/j.ymgme.2003.08.004","article-title":"Novel mutations in arylsulfatase A gene in three Ukrainian families with metachromatic leukodystrophy","volume":"80","author":"Olkhovich","year":"2003","journal-title":"Mol Genet Metab"},{"key":"10.1002\/humu.22919-BIB0099|humu22919-cit-0099","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1179\/016164108X323762","article-title":"Identification of two novel arylsulfatase A mutations with a polymorphism as a cause of metachromatic leukodystrophy","volume":"31","author":"Onder","year":"2009","journal-title":"Neurol Res"},{"key":"10.1002\/humu.22919-BIB0100|humu22919-cit-0100","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1002\/humu.1380040305","article-title":"Metachromatic leukodystrophy in the Navajo Indian population: a splice site mutation in intron 4 of the arylsulfatase A gene","volume":"4","author":"Pastor-Soler","year":"1994","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.22919-BIB0101|humu22919-cit-0101","doi-asserted-by":"crossref","first-page":"326","DOI":"10.1007\/BF00710424","article-title":"Metachromatic leukodystrophy among southern Alaskan Eskimos: molecular and genetic studies","volume":"18","author":"Pastor-Soler","year":"1995","journal-title":"J Inherit Metab Dis"},{"key":"10.1002\/humu.22919-BIB0102|humu22919-cit-0102","doi-asserted-by":"crossref","first-page":"449","DOI":"10.1006\/mcpr.1997.0138","article-title":"A novel mutation which represents the fifth non-pathogenic polymorphism in the coding sequence of the arylsulfatase A gene","volume":"11","author":"Perusi","year":"1997","journal-title":"Mol Cell Probes"},{"key":"10.1002\/humu.22919-BIB0103|humu22919-cit-0103","doi-asserted-by":"crossref","first-page":"130","DOI":"10.1034\/j.1399-0004.1999.550211.x","article-title":"Mutations associated with very late-onset metachromatic leukodystrophy","volume":"55","author":"Perusi","year":"1999","journal-title":"Clin Genet"},{"key":"10.1002\/humu.22919-BIB0104|humu22919-cit-0104","first-page":"1179","article-title":"Missense mutations as a cause of metachromatic leukodystrophy","volume":"272","author":"Poeppel","year":"2005","journal-title":"EBS J"},{"key":"10.1002\/humu.22919-BIB0105|humu22919-cit-0105","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1056\/NEJM199101033240104","article-title":"Molecular basis of different forms of metachromatic leukodystrophy","volume":"324","author":"Polten","year":"1991","journal-title":"N Eng J Med"},{"key":"10.1002\/humu.22919-BIB0106|humu22919-cit-0106","doi-asserted-by":"crossref","first-page":"206","DOI":"10.1006\/mgme.1999.2865","article-title":"Metachromatic leukodystrophy: subtype genotype\/phenotype correlations and identification of novel missense mutations (P148L and P191T) causing the juvenile-onset disease","volume":"67","author":"Qu","year":"1999","journal-title":"Mol Genet Metab"},{"key":"10.1002\/humu.22919-BIB0107|humu22919-cit-0107","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1016\/S1096-7192(03)00076-3","article-title":"Disease-causing mutations in cis with the common arylsulfatase A pseudodeficiency allele compound the difficulties in accurately identifying patients and carriers of metachromatic leukodystrophy","volume":"79","author":"Rafi","year":"2003","journal-title":"Mol Genet Metab"},{"key":"10.1002\/humu.22919-BIB0108|humu22919-cit-0108","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":"10.1002\/humu.22919-BIB0109|humu22919-cit-0109","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1007\/BF00207387","article-title":"An AT-deletion causing a frameshift in the arylsulfatase A gene of a late infantile metachromatic leukodystrophy patient","volume":"96","author":"Regis","year":"1995","journal-title":"Hum Genet"},{"key":"10.1002\/humu.22919-BIB0110|humu22919-cit-0110","doi-asserted-by":"crossref","first-page":"150","DOI":"10.1038\/sj.ejhg.5201100","article-title":"An unusual arylsulfatase A pseudodeficiency allele carrying a splice site mutation in a metachromatic leukodystrophy patient","volume":"12","author":"Regis","year":"2004","journal-title":"Eur J Hum Genet"},{"key":"10.1002\/humu.22919-BIB0111|humu22919-cit-0111","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1007\/s00439-002-0701-y","article-title":"Contribution of arylsulfatase A mutations located on the same allele to enzyme activity reduction and metachromatic leukodystrophy severity","volume":"110","author":"Regis","year":"2002","journal-title":"Hum Genet"},{"key":"10.1002\/humu.22919-BIB0112|humu22919-cit-0112","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1038\/sj.ejhg.5200266","article-title":"An Asn >Lys substitution in saposin B involving a conserved amino acidic residue and leading to the loss of the single N-glycosylation site in a patient with metachromatic leukodystrophy and normal arylsulphatase A activity","volume":"7","author":"Regis","year":"1999","journal-title":"Eur J Hum Genet"},{"key":"10.1002\/humu.22919-BIB0113|humu22919-cit-0113","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1007\/s004390050652","article-title":"A 9-bp deletion (2320del9) on the background of the arylsulfatase A pseudodeficiency allele in a metachromatic leukodystrophy patient and in a patient with nonprogressive neurological symptoms","volume":"102","author":"Regis","year":"1998","journal-title":"Hum Genet"},{"key":"10.1002\/humu.22919-BIB0114|humu22919-cit-0114","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1111\/j.1399-0004.1997.tb02518.x","article-title":"A T >C transition causing a Leu >Pro substitution in a conserved region of the arylsulfatase A gene in a late infantile metachromatic leukodystrophy patient","volume":"52","author":"Regis","year":"1997","journal-title":"Clin Genet"},{"key":"10.1002\/humu.22919-BIB0115|humu22919-cit-0115","doi-asserted-by":"crossref","first-page":"150","DOI":"10.1016\/j.ymgme.2006.03.016","article-title":"Somatic intragenic recombination of the arylsulfatase A gene in a metachromatic leukodystrophy patient","volume":"89","author":"Regis","year":"2006","journal-title":"Mol Genet Metab"},{"key":"10.1002\/humu.22919-BIB0116|humu22919-cit-0116","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1002\/(SICI)1098-1004(1998)12:4<238::AID-HUMU3>3.0.CO;2-B","article-title":"The R496H mutation of arylsulfatase A does not cause metachromatic leukodystrophy","volume":"12","author":"Ricketts","year":"1998","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.22919-BIB0117|humu22919-cit-0117","first-page":"3371","volume-title":"The metabolic and molecular bases of inherited diseases","author":"Sandhoff","year":"2001"},{"issue":"Pt 2","key":"10.1002\/humu.22919-BIB0118|humu22919-cit-0118","doi-asserted-by":"crossref","first-page":"499","DOI":"10.1042\/bj20020286","article-title":"The functional consequences of mis-sense mutations affecting an intra-molecular salt bridge in arylsulphatase A","volume":"367","author":"Schestag","year":"2002","journal-title":"Biochem J"},{"key":"10.1002\/humu.22919-BIB0119|humu22919-cit-0119","doi-asserted-by":"crossref","first-page":"1724","DOI":"10.4088\/JCP.09l05010","article-title":"A novel mutation of the arylsulfatase A gene in late-onset metachromatic leukodystrophy","volume":"70","author":"Schneider","year":"2009","journal-title":"J Clin Psychiatr"},{"key":"10.1002\/humu.22919-BIB0120|humu22919-cit-0120","doi-asserted-by":"crossref","first-page":"1179","DOI":"10.1203\/00006450-197910000-00021","article-title":"Metachromatic leukodystrophy without arylsulfatase A deficiency","volume":"13","author":"Shapiro","year":"1979","journal-title":"Pediatr Res"},{"key":"10.1002\/humu.22919-BIB0121|humu22919-cit-0121","first-page":"683","article-title":"ASA E382K disrupts a potential exonic splicing enhancer and causes exon skipping, but missense mutations in ASA are not associated with ESEs","volume":"14","author":"Shotelersuk","year":"2004","journal-title":"Int J Mol Med"},{"key":"10.1002\/humu.22919-BIB0122|humu22919-cit-0122","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1016\/j.jns.2010.11.007","article-title":"Molecular and structural analysis of metachromatic leukodystrophy patients in Indian population","volume":"301","author":"Shukla","year":"2011","journal-title":"J Neurol Sci"},{"key":"10.1002\/humu.22919-BIB0123|humu22919-cit-0123","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1007\/s10048-014-0390-4","article-title":"A novel homozygous splicing mutation in PSAP gene causes metachromatic leukodystrophy in two Moroccan brothers","volume":"15","author":"Siri","year":"2014","journal-title":"Neurogenetics"},{"key":"10.1002\/humu.22919-BIB0124|humu22919-cit-0124","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1159\/000159928","article-title":"A novel mutation in the arylsulfatase A gene associated with adult-onset metachromatic leukodystrophy without clinical evidence of neuropathy","volume":"60","author":"Suzuki","year":"2008","journal-title":"Eur Neurol"},{"key":"10.1002\/humu.22919-BIB0125|humu22919-cit-0125","first-page":"312","article-title":"[Two siblings with metachromatic leukodystrophy of adult and juvenile onset]","volume":"33","author":"Takahashi","year":"1993","journal-title":"Rinsho Shinkeigaku (Clin Neurol)"},{"key":"10.1002\/humu.22919-BIB0126|humu22919-cit-0126","doi-asserted-by":"crossref","first-page":"400","DOI":"10.1016\/0387-7604(96)00041-1","article-title":"Two novel mutations in a Japanese patient with the late-infantile form of metachromatic leukodystrophy","volume":"18","author":"Tsuda","year":"1996","journal-title":"Brain Dev"},{"key":"10.1002\/humu.22919-BIB0127|humu22919-cit-0127","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1111\/j.1399-0004.1996.tb02376.x","article-title":"Late juvenile metachromatic leukodystrophy (MLD) in three patients with a similar clinical course and identical mutation on one allele","volume":"50","author":"Tylki-Szymanska","year":"1996","journal-title":"Clin Genet"},{"key":"10.1002\/humu.22919-BIB0128|humu22919-cit-0128","doi-asserted-by":"crossref","first-page":"1171","DOI":"10.1177\/0004867414550212","article-title":"Metachromatic leukodystrophy presenting as bipolar disorder","volume":"48","author":"Velakoulis","year":"2014","journal-title":"Aust N Z J Psychiatry"},{"key":"10.1002\/humu.22919-BIB0129|humu22919-cit-0129","doi-asserted-by":"crossref","first-page":"9455","DOI":"10.1074\/jbc.M111993200","article-title":"Defective oligomerization of arylsulfatase a as a cause of its instability in lysosomes and metachromatic leukodystrophy","volume":"277","author":"Bulow","year":"2002","journal-title":"J Biol Chem"},{"key":"10.1002\/humu.22919-BIB0130|humu22919-cit-0130","first-page":"3695","volume-title":"The metabolic and molecular bases of inherited diseases","author":"Figura","year":"2001"},{"key":"10.1002\/humu.22919-BIB0131|humu22919-cit-0131","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1016\/j.pediatrneurol.2007.02.011","article-title":"ARSA gene mutations in five Chinese metachromatic leukodystrophy patients","volume":"36","author":"Wang","year":"2007","journal-title":"Pediatr Neurol"},{"key":"10.1002\/humu.22919-BIB0132|humu22919-cit-0132","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1023\/A:1005603014401","article-title":"A non-glycosylated and functionally deficient mutant (N215H) of the sphingolipid activator protein B (SAP-B) in a novel case of metachromatic leukodystrophy (MLD)","volume":"23","author":"Wrobe","year":"2000","journal-title":"J Inherit Metab Dis"},{"key":"10.1002\/humu.22919-BIB0133|humu22919-cit-0133","doi-asserted-by":"crossref","first-page":"933","DOI":"10.1023\/B:NERE.0000021237.55037.35","article-title":"Three novel mutant arylsulfatase A alleles causing metachromatic leukodystrophy","volume":"29","author":"Yaghootfam","year":"2004","journal-title":"Neurochem Res"},{"key":"10.1002\/humu.22919-BIB0134|humu22919-cit-0134","first-page":"615","article-title":"[Analysis of phenotype and genotype in a family with late infantile metachromatic leukodystrophy]","volume":"31","author":"Yang","year":"2014","journal-title":"Zhonghua Yi Xue Yi Chuan Xue Za Zhi (Chin J Med Genet"},{"key":"10.1002\/humu.22919-BIB0135|humu22919-cit-0135","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1007\/BF00204185","article-title":"The mechanism for a 33-nucleotide insertion in mRNA causing sphingolipid activator protein (SAP-1)-deficient metachromatic leukodystrophy","volume":"87","author":"Zhang","year":"1991","journal-title":"Hum Genet"},{"key":"10.1002\/humu.22919-BIB0136|humu22919-cit-0136","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1002\/humu.1380050207","article-title":"Molecular basis of late infantile metachromatic leukodystrophy in the Habbanite Jews","volume":"5","author":"Zlotogora","year":"1995","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.22919-BIB0137|humu22919-cit-0137","doi-asserted-by":"crossref","first-page":"672","DOI":"10.1136\/jmg.31.9.672","article-title":"A single origin for the most frequent mutation causing late infantile metachromatic leucodystrophy","volume":"31","author":"Zlotogora","year":"1994","journal-title":"J Med Genet"},{"issue":"Pt 2","key":"10.1002\/humu.22919-BIB0138|humu22919-cit-0138","doi-asserted-by":"crossref","first-page":"202","DOI":"10.1111\/j.1469-1809.2006.00308.x","article-title":"The fate of 12 recessive mutations in a single village","volume":"71","author":"Zlotogora","year":"2007","journal-title":"Ann Hum Genet"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fhumu.22919","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/onlinelibrary.wiley.com\/wol1\/doi\/10.1002\/humu.22919\/fullpdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T11:53:35Z","timestamp":1672314815000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.22919"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,11,4]]},"references-count":140,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2016,1]]}},"URL":"https:\/\/doi.org\/10.1002\/humu.22919","archive":["Portico"],"relation":{},"ISSN":["1059-7794"],"issn-type":[{"value":"1059-7794","type":"print"}],"subject":[],"published":{"date-parts":[[2015,11,4]]}}}