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Natural History of Vanishing White Matter. Ann Neurol. 2018 Aug;84(2):274-288. doi: 10.1002/ana.25287. Epub 2018 Sep 6. PMID: 30014503; PMCID: PMC6175238."},"publicationIDType":{"typeName":"publicationIDType","multiple":false,"typeClass":"controlledVocabulary","value":"doi"},"publicationIDNumber":{"typeName":"publicationIDNumber","multiple":false,"typeClass":"primitive","value":"10.1002/ana.25287"},"publicationURL":{"typeName":"publicationURL","multiple":false,"typeClass":"primitive","value":"https://pubmed.ncbi.nlm.nih.gov/30014503/"}},{"publicationRelationType":{"typeName":"publicationRelationType","multiple":false,"typeClass":"controlledVocabulary","value":"IsReferencedBy"},"publicationCitation":{"typeName":"publicationCitation","multiple":false,"typeClass":"primitive","value":"Stellingwerff MD, Al-Saady ML, Chan KS, Dvorak A, Marques JP, Kolind S, Schoenmakers DH, van Voorst R, Roosendaal SD, Barkhof F, Wolf NI, Berkhof J, Pouwels PJW, van der Knaap MS. Quantitative MRI distinguishes different leukodystrophies and correlates with clinical measures. Eur Radiol. 2025 Apr;35(4):1845-1857. doi: 10.1007/s00330-024-11089-5. Epub 2024 Sep 25. PMID: 39320477; PMCID: PMC11914348."},"publicationIDType":{"typeName":"publicationIDType","multiple":false,"typeClass":"controlledVocabulary","value":"doi"},"publicationIDNumber":{"typeName":"publicationIDNumber","multiple":false,"typeClass":"primitive","value":"10.1007/s00330-024-11089-5"},"publicationURL":{"typeName":"publicationURL","multiple":false,"typeClass":"primitive","value":"https://pubmed.ncbi.nlm.nih.gov/39320477/"}},{"publicationRelationType":{"typeName":"publicationRelationType","multiple":false,"typeClass":"controlledVocabulary","value":"IsReferencedBy"},"publicationCitation":{"typeName":"publicationCitation","multiple":false,"typeClass":"primitive","value":"van Voorst RJ, Schoenmakers DH, van Beelen I, Gavazzi F, Chapleau A, Vanderver A, Bernard G, Krägeloh-Mann I, van der Knaap MS. The impact of vanishing white matter on unaffected family members. Orphanet J Rare Dis. 2025 Aug 26;20(1):456. doi: 10.1186/s13023-025-03987-8. PMID: 40859278; PMCID: PMC12379427."},"publicationIDType":{"typeName":"publicationIDType","multiple":false,"typeClass":"controlledVocabulary","value":"doi"},"publicationIDNumber":{"typeName":"publicationIDNumber","multiple":false,"typeClass":"primitive","value":"10.1186/s13023-025-03987-8"},"publicationURL":{"typeName":"publicationURL","multiple":false,"typeClass":"primitive","value":"https://pubmed.ncbi.nlm.nih.gov/40859278/"}},{"publicationRelationType":{"typeName":"publicationRelationType","multiple":false,"typeClass":"controlledVocabulary","value":"IsReferencedBy"},"publicationCitation":{"typeName":"publicationCitation","multiple":false,"typeClass":"primitive","value":"Schoenmakers DH, van Beelen I, Voermans MMC, Perik D, Stellingwerff MD, Wolf NI, Berkhof J, van der Knaap MS. Adaptive behavior assessed by Vineland-3 as comprehensive outcome measure in vanishing white matter. Ann Clin Transl Neurol. 2024 Mar;11(3):650-661. doi: 10.1002/acn3.51985. Epub 2024 Jan 12. PMID: 38217081; PMCID: PMC10963295."},"publicationIDType":{"typeName":"publicationIDType","multiple":false,"typeClass":"controlledVocabulary","value":"doi"},"publicationIDNumber":{"typeName":"publicationIDNumber","multiple":false,"typeClass":"primitive","value":"10.1002/acn3.51985"},"publicationURL":{"typeName":"publicationURL","multiple":false,"typeClass":"primitive","value":"https://pubmed.ncbi.nlm.nih.gov/38217081/"}}]},{"typeName":"notesText","multiple":false,"typeClass":"primitive","value":"Data collection began in 2004 on paper. In 2016, it transitioned to electronic entry in Access, and since 2019, data have been collected using Castor EDC. \n\nThe database includes validated scales, such as the Health Utility Index (HUI), Guy’s Neurological Disability Scale (GNDS), Gross Motor Function Classification System – Extended & Revised (GMFCS-E&R), Communication Function Classification System (CFCS), and Manual Ability Classification System (MACS), alongside our self-developed, unvalidated VWM questionnaire covering a broad range of topics. \nThe Gross Motor Function Classification in Metachromatic Leucodystrophy (GMFC-MLD), Expressive Language Function Classification in Metachromatic Leucodystrophy (ELFC-MLD), Eating and Drinking Ability Classification System (EDACS), EuroQol-5 Dimension (EQ5D) 5 level (-5L) and child/adolescent (-Y) versions were incorporated later.\n \nWhile most participants reside outside the Netherlands and have never attended the hospital, a subset underwent clinical visits during which the Modified Rankin Scale (MRS) and Vineland-3 were additionally administered."},{"typeName":"language","multiple":true,"typeClass":"controlledVocabulary","value":["English"]},{"typeName":"producer","multiple":true,"typeClass":"compound","value":[{"producerName":{"typeName":"producerName","multiple":false,"typeClass":"primitive","value":"van der Knaap, Marjo"},"producerAffiliation":{"typeName":"producerAffiliation","multiple":false,"typeClass":"primitive","value":"Amsterdam UMC"}}]},{"typeName":"depositor","multiple":false,"typeClass":"primitive","value":"Postema, Merel"},{"typeName":"dateOfCollection","multiple":true,"typeClass":"compound","value":[{"dateOfCollectionStart":{"typeName":"dateOfCollectionStart","multiple":false,"typeClass":"primitive","value":"2004"}}]},{"typeName":"kindOfData","multiple":true,"typeClass":"primitive","value":["Survey data"]},{"typeName":"software","multiple":true,"typeClass":"compound","value":[{"softwareName":{"typeName":"softwareName","multiple":false,"typeClass":"primitive","value":"Castor EDC"}}]},{"typeName":"otherReferences","multiple":true,"typeClass":"primitive","value":["https://www.orpha.net/en/research-trials/registry/642914?name=&mode=&country=","https://eu-rd-platform.jrc.ec.europa.eu/erdridor/register/name/VWM%20Registry"]},{"typeName":"dataSources","multiple":true,"typeClass":"primitive","value":["https://www.medrxiv.org/content/medrxiv/early/2026/09/26/2026.09.21.26363197.full.pdf\nhttps://zenodo.org/records/22920085"]}]},"dansDataVaultMetadata":{"displayName":"Data Vault Metadata","name":"dansDataVaultMetadata","fields":[{"typeName":"dansDataversePid","multiple":false,"typeClass":"primitive","value":"doi:10.34894/LS1ZGD"},{"typeName":"dansDataversePidVersion","multiple":false,"typeClass":"primitive","value":"1.1"},{"typeName":"dansBagId","multiple":false,"typeClass":"primitive","value":"urn:uuid:7a4aa350-843a-4cda-809f-339f42f5b12b"},{"typeName":"dansNbn","multiple":false,"typeClass":"primitive","value":"urn:nbn:nl:ui:13-773d9f89-e819-4a04-ae69-1530002e58bf"}]}},"files":[]}}}