{"id":"https://openalex.org/W4392391902","doi":"https://doi.org/10.1016/j.ymgme.2024.108349","title":"Improving newborn screening test performance for metachromatic leukodystrophy: Recommendation from a pre-pilot study that identified a late-infantile case for treatment","display_name":"Improving newborn screening test performance for metachromatic leukodystrophy: Recommendation from a pre-pilot study that identified a late-infantile case for treatment","publication_year":2024,"publication_date":"2024-02-19","ids":{"openalex":"https://openalex.org/W4392391902","doi":"https://doi.org/10.1016/j.ymgme.2024.108349","pmid":"https://pubmed.ncbi.nlm.nih.gov/38458124"},"language":"en","primary_location":{"id":"doi:10.1016/j.ymgme.2024.108349","doi":"https://doi.org/10.1016/j.ymgme.2024.108349","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.ymgme.2024.108349","pdf_url":null,"source":{"id":"https://openalex.org/S42433034","display_name":"Molecular Genetics and Metabolism","issn_l":"1096-7192","issn":["1096-7192","1096-7206"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Molecular Genetics and Metabolism","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"hybrid","oa_url":"https://doi.org/10.1016/j.ymgme.2024.108349","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5017471206","display_name":"Teresa Hoi-Yee Wu","orcid":"https://orcid.org/0000-0001-6471-6743","observed_orcids":["https://orcid.org/0000-0001-6471-6743"]},"institutions":[{"id":"https://openalex.org/I4210092852","display_name":"Manchester University NHS Foundation Trust","ror":"https://ror.org/00he80998","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I4210092852"]}],"countries":["GB"],"is_corresponding":true,"raw_author_name":"Teresa H.Y. WU","raw_affiliation_strings":["Willink Biochemical Genetics Unit, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Oxford Road, Manchester M13 9WL, UK. Electronic address: hoiyee.wu@mft.nhs.uk","Willink Biochemical Genetics Unit, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Oxford Road, Manchester M13 9WL, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Willink Biochemical Genetics Unit, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Oxford Road, Manchester M13 9WL, UK. Electronic address: hoiyee.wu@mft.nhs.uk","institution_ids":["https://openalex.org/I4210092852"]},{"raw_affiliation_string":"Willink Biochemical Genetics Unit, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Oxford Road, Manchester M13 9WL, UK","institution_ids":["https://openalex.org/I4210092852"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Heather A. Brown","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210092852","display_name":"Manchester University NHS Foundation Trust","ror":"https://ror.org/00he80998","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I4210092852"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Heather A. Brown","raw_affiliation_strings":["Willink Biochemical Genetics Unit, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Oxford Road, Manchester M13 9WL, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Willink Biochemical Genetics Unit, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Oxford Road, Manchester M13 9WL, UK","institution_ids":["https://openalex.org/I4210092852"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5103798960","display_name":"Heather J. Church","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210092852","display_name":"Manchester University NHS Foundation Trust","ror":"https://ror.org/00he80998","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I4210092852"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Heather J. Church","raw_affiliation_strings":["Willink Biochemical Genetics Unit, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Oxford Road, Manchester M13 9WL, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Willink Biochemical Genetics Unit, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Oxford Road, Manchester M13 9WL, UK","institution_ids":["https://openalex.org/I4210092852"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5087778837","display_name":"Christopher J. Kershaw","orcid":"https://orcid.org/0000-0001-6625-7894","observed_orcids":["https://orcid.org/0000-0001-6625-7894"]},"institutions":[{"id":"https://openalex.org/I4210092852","display_name":"Manchester University NHS Foundation Trust","ror":"https://ror.org/00he80998","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I4210092852"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Christopher J. Kershaw","raw_affiliation_strings":["North-West Genomic Laboratory Hub, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Oxford Road, Manchester M13 9WL, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"North-West Genomic Laboratory Hub, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Oxford Road, Manchester M13 9WL, UK","institution_ids":["https://openalex.org/I4210092852"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5073528107","display_name":"Rebekah Hutton","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210092852","display_name":"Manchester University NHS Foundation Trust","ror":"https://ror.org/00he80998","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I4210092852"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Rebekah Hutton","raw_affiliation_strings":["Willink Biochemical Genetics Unit, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Oxford Road, Manchester M13 9WL, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Willink Biochemical Genetics Unit, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Oxford Road, Manchester M13 9WL, UK","institution_ids":["https://openalex.org/I4210092852"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5005072477","display_name":"Christine Egerton","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210092852","display_name":"Manchester University NHS Foundation Trust","ror":"https://ror.org/00he80998","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I4210092852"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Christine Egerton","raw_affiliation_strings":["Willink Biochemical Genetics Unit, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Oxford Road, Manchester M13 9WL, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Willink Biochemical Genetics Unit, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Oxford Road, Manchester M13 9WL, UK","institution_ids":["https://openalex.org/I4210092852"]}]},{"author_position":"middle","author":{"id":null,"display_name":"James Cooper","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210092852","display_name":"Manchester University NHS Foundation Trust","ror":"https://ror.org/00he80998","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I4210092852"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"James Cooper","raw_affiliation_strings":["Willink Biochemical Genetics Unit, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Oxford Road, Manchester M13 9WL, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Willink Biochemical Genetics Unit, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Oxford Road, Manchester M13 9WL, UK","institution_ids":["https://openalex.org/I4210092852"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5077009289","display_name":"Karen L. Tylee","orcid":"https://orcid.org/0000-0001-9149-1009","observed_orcids":["https://orcid.org/0000-0001-9149-1009"]},"institutions":[{"id":"https://openalex.org/I4210092852","display_name":"Manchester University NHS Foundation Trust","ror":"https://ror.org/00he80998","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I4210092852"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Karen Tylee","raw_affiliation_strings":["Willink Biochemical Genetics Unit, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Oxford Road, Manchester M13 9WL, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Willink Biochemical Genetics Unit, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Oxford Road, Manchester M13 9WL, UK","institution_ids":["https://openalex.org/I4210092852"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5069326954","display_name":"Rebecca N. Cohen","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210092852","display_name":"Manchester University NHS Foundation Trust","ror":"https://ror.org/00he80998","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I4210092852"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Rebecca N. Cohen","raw_affiliation_strings":["North-West Genomic Laboratory Hub, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Oxford Road, Manchester M13 9WL, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"North-West Genomic Laboratory Hub, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Oxford Road, Manchester M13 9WL, UK","institution_ids":["https://openalex.org/I4210092852"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111186994","display_name":"David A. Gokhale","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210092852","display_name":"Manchester University NHS Foundation Trust","ror":"https://ror.org/00he80998","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I4210092852"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"David Gokhale","raw_affiliation_strings":["North-West Genomic Laboratory Hub, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Oxford Road, Manchester M13 9WL, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"North-West Genomic Laboratory Hub, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Oxford Road, Manchester M13 9WL, UK","institution_ids":["https://openalex.org/I4210092852"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5081210287","display_name":"Dipak Ram","orcid":"https://orcid.org/0000-0001-8544-2534","observed_orcids":["https://orcid.org/0000-0001-8544-2534"]},"institutions":[{"id":"https://openalex.org/I4210160221","display_name":"Royal Manchester Children's Hospital","ror":"https://ror.org/052vjje65","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I4210092852","https://openalex.org/I4210160221"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Dipak Ram","raw_affiliation_strings":["Department of Paediatric Neurology, Royal Manchester Children's Hospital, Oxford Road, Manchester M13 9WL, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Paediatric Neurology, Royal Manchester Children's Hospital, Oxford Road, Manchester M13 9WL, UK","institution_ids":["https://openalex.org/I4210160221"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5001769481","display_name":"Georgina Morton","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Georgina Morton","raw_affiliation_strings":["ArchAngel MLD Trust, 506 Betula House, North Wharf Road, London W2 1DT, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"ArchAngel MLD Trust, 506 Betula House, North Wharf Road, London W2 1DT, UK","institution_ids":[]}]},{"author_position":"middle","author":{"id":null,"display_name":"Michael Henderson","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2799390153","display_name":"Leeds Teaching Hospitals NHS Trust","ror":"https://ror.org/00v4dac24","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2799390153"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Michael Henderson","raw_affiliation_strings":["Specialist Laboratory Medicine, Leeds Teaching Hospitals Trust, Leeds LS9 7TF, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Specialist Laboratory Medicine, Leeds Teaching Hospitals Trust, Leeds LS9 7TF, UK","institution_ids":["https://openalex.org/I2799390153"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5060376569","display_name":"Brian Bigger","orcid":"https://orcid.org/0000-0002-9708-1112","observed_orcids":["https://orcid.org/0000-0002-9708-1112"]},"institutions":[{"id":"https://openalex.org/I28407311","display_name":"University of Manchester","ror":"https://ror.org/027m9bs27","country_code":"GB","type":"education","lineage":["https://openalex.org/I28407311"]},{"id":"https://openalex.org/I4210108209","display_name":"MRC Centre for Regenerative Medicine","ror":"https://ror.org/01x802g65","country_code":"GB","type":"facility","lineage":["https://openalex.org/I4210087105","https://openalex.org/I4210108209","https://openalex.org/I90344618","https://openalex.org/I98677209"]},{"id":"https://openalex.org/I98677209","display_name":"University of Edinburgh","ror":"https://ror.org/01nrxwf90","country_code":"GB","type":"education","lineage":["https://openalex.org/I98677209"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Brian W. Bigger","raw_affiliation_strings":["Stem Cell & Neurotherapies, Faculty of Biology Medicine and Health, University of Manchester, Manchester M13 9PT, UK; Centre for Regenerative Medicine, Institute for Regeneration and Repair, The University of Edinburgh, Edinburgh EH16 4UU, UK","Centre for Regenerative Medicine, Institute for Regeneration and Repair, The University of Edinburgh, Edinburgh EH16 4UU, UK","Stem Cell & Neurotherapies, Faculty of Biology Medicine and Health, University of Manchester, Manchester M13 9PT, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Stem Cell & Neurotherapies, Faculty of Biology Medicine and Health, University of Manchester, Manchester M13 9PT, UK; Centre for Regenerative Medicine, Institute for Regeneration and Repair, The University of Edinburgh, Edinburgh EH16 4UU, UK","institution_ids":["https://openalex.org/I28407311","https://openalex.org/I4210108209","https://openalex.org/I98677209"]},{"raw_affiliation_string":"Centre for Regenerative Medicine, Institute for Regeneration and Repair, The University of Edinburgh, Edinburgh EH16 4UU, UK","institution_ids":["https://openalex.org/I4210108209","https://openalex.org/I98677209"]},{"raw_affiliation_string":"Stem Cell & Neurotherapies, Faculty of Biology Medicine and Health, University of Manchester, Manchester M13 9PT, UK","institution_ids":["https://openalex.org/I28407311"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5058641127","display_name":"Simon Allan Jones","orcid":"https://orcid.org/0000-0002-5117-0566","observed_orcids":["https://orcid.org/0000-0002-5117-0566"]},"institutions":[{"id":"https://openalex.org/I4210092852","display_name":"Manchester University NHS Foundation Trust","ror":"https://ror.org/00he80998","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I4210092852"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Simon A. Jones","raw_affiliation_strings":["Willink Biochemical Genetics Unit, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Oxford Road, Manchester M13 9WL, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Willink Biochemical Genetics Unit, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Oxford Road, Manchester M13 9WL, UK","institution_ids":["https://openalex.org/I4210092852"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":6,"corresponding_author_ids":["https://openalex.org/A5017471206"],"corresponding_institution_ids":["https://openalex.org/I4210092852"],"apc_list":{"value":3570,"currency":"USD","value_usd":3570},"apc_paid":{"value":3570,"currency":"USD","value_usd":3570},"fwci":7.8996,"has_fulltext":false,"cited_by_count":21,"citation_normalized_percentile":{"value":0.98310951,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":96,"max":99},"biblio":{"volume":"142","issue":"1","first_page":"108349","last_page":"108349"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10945","display_name":"Lysosomal Storage Disorders Research","score":0.9688000082969666,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics (clinical)"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10945","display_name":"Lysosomal Storage Disorders Research","score":0.9688000082969666,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics (clinical)"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.031099999323487282,"subfield":{"id":"https://openalex.org/subfields/1308","display_name":"Clinical Biochemistry"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T12604","display_name":"Glycogen Storage Diseases and Myoclonus","score":9.999999747378752e-05,"subfield":{"id":"https://openalex.org/subfields/1303","display_name":"Biochemistry"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/metachromatic-leukodystrophy","display_name":"metachromatic leukodystrophy","score":0.9779999852180481},{"id":"https://openalex.org/keywords/newborn-screening","display_name":"newborn screening","score":0.9940000176429749},{"id":"https://openalex.org/keywords/cutoff-values","display_name":"cut-off values","score":0.6060000061988831},{"id":"https://openalex.org/keywords/late-infantile-mld","display_name":"late infantile MLD","score":0.7390000224113464},{"id":"https://openalex.org/keywords/early-diagnosis","display_name":"early diagnosis","score":0.6190000176429749},{"id":"https://openalex.org/keywords/rare-neurodegenerative-disease","display_name":"rare neurodegenerative disease","score":0.746999979019165}],"concepts":[{"id":"https://openalex.org/C2776326100","wikidata":"https://www.wikidata.org/wiki/Q1120682","display_name":"Metachromatic leukodystrophy","level":2,"score":0.964077889919281},{"id":"https://openalex.org/C2776169613","wikidata":"https://www.wikidata.org/wiki/Q2305910","display_name":"Newborn screening","level":2,"score":0.663392186164856},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.6566367745399475},{"id":"https://openalex.org/C2779247111","wikidata":"https://www.wikidata.org/wiki/Q424837","display_name":"Arylsulfatase A","level":3,"score":0.6168826222419739},{"id":"https://openalex.org/C2776100374","wikidata":"https://www.wikidata.org/wiki/Q1821559","display_name":"Leukodystrophy","level":3,"score":0.5492277145385742},{"id":"https://openalex.org/C2778264360","wikidata":"https://www.wikidata.org/wiki/Q675010","display_name":"Lysosomal storage disease","level":3,"score":0.5217650532722473},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.5058817267417908},{"id":"https://openalex.org/C26291073","wikidata":"https://www.wikidata.org/wiki/Q310484","display_name":"Ex vivo","level":3,"score":0.4762004613876343},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.4290945529937744},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.411958247423172},{"id":"https://openalex.org/C207001950","wikidata":"https://www.wikidata.org/wiki/Q141124","display_name":"In vivo","level":2,"score":0.2678603529930115},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.19890925288200378},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.15457838773727417},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.08469200134277344}],"mesh":[{"descriptor_ui":"D002553","descriptor_name":"Cerebroside-Sulfatase","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007223","descriptor_name":"Infant","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007231","descriptor_name":"Infant, Newborn","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007966","descriptor_name":"Leukodystrophy, Metachromatic","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D007966","descriptor_name":"Leukodystrophy, Metachromatic","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D007966","descriptor_name":"Leukodystrophy, Metachromatic","qualifier_ui":"Q000628","qualifier_name":"therapy","is_major_topic":true},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010865","descriptor_name":"Pilot Projects","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D013433","descriptor_name":"Sulfoglycosphingolipids","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015316","descriptor_name":"Genetic Therapy","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015997","descriptor_name":"Neonatal Screening","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true}],"locations_count":3,"locations":[{"id":"doi:10.1016/j.ymgme.2024.108349","doi":"https://doi.org/10.1016/j.ymgme.2024.108349","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.ymgme.2024.108349","pdf_url":null,"source":{"id":"https://openalex.org/S42433034","display_name":"Molecular Genetics and Metabolism","issn_l":"1096-7192","issn":["1096-7192","1096-7206"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Molecular Genetics and Metabolism","raw_type":"journal-article"},{"id":"doi:10.2139/ssrn.4666602","doi":"https://doi.org/10.2139/ssrn.4666602","is_oa":true,"landing_page_url":"https://doi.org/10.2139/ssrn.4666602","pdf_url":null,"source":{"id":"https://openalex.org/S4210172589","display_name":"SSRN Electronic Journal","issn_l":"1556-5068","issn":["1556-5068"],"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1318003438","host_organization_name":"RELX Group (Netherlands)","host_organization_lineage":["https://openalex.org/I1318003438"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"posted-content"},{"id":"pmid:38458124","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/38458124","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Molecular genetics and metabolism","raw_type":"Journal Article"}],"best_oa_location":{"id":"doi:10.1016/j.ymgme.2024.108349","doi":"https://doi.org/10.1016/j.ymgme.2024.108349","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.ymgme.2024.108349","pdf_url":null,"source":{"id":"https://openalex.org/S42433034","display_name":"Molecular Genetics and Metabolism","issn_l":"1096-7192","issn":["1096-7192","1096-7206"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Molecular Genetics and Metabolism","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","score":1.0,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[],"funders":[{"id":"https://openalex.org/F6760848407","display_name":"Orchard Therapeutics","ror":"https://ror.org/050adjk75"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":31,"referenced_works":["https://openalex.org/W49449397","https://openalex.org/W209224451","https://openalex.org/W1993034655","https://openalex.org/W2008273301","https://openalex.org/W2011186906","https://openalex.org/W2014241746","https://openalex.org/W2016171316","https://openalex.org/W2047135667","https://openalex.org/W2090046063","https://openalex.org/W2151794393","https://openalex.org/W2177377315","https://openalex.org/W2326473763","https://openalex.org/W2418624400","https://openalex.org/W2585933788","https://openalex.org/W2755718636","https://openalex.org/W2782325848","https://openalex.org/W2998809417","https://openalex.org/W3004561329","https://openalex.org/W3016786509","https://openalex.org/W3045835956","https://openalex.org/W3091899305","https://openalex.org/W3100144559","https://openalex.org/W3129185840","https://openalex.org/W4205576227","https://openalex.org/W4220784206","https://openalex.org/W4220886067","https://openalex.org/W4298127179","https://openalex.org/W4301397386","https://openalex.org/W4319456808","https://openalex.org/W4381849512","https://openalex.org/W4385064324"],"related_works":["https://openalex.org/W4390580749","https://openalex.org/W4413106915","https://openalex.org/W7218550170","https://openalex.org/W3100144559","https://openalex.org/W7166753536","https://openalex.org/W4409770371","https://openalex.org/W7133618136","https://openalex.org/W7207783760","https://openalex.org/W4410472962","https://openalex.org/W4409160403"],"abstract_inverted_index":{"Metachromatic":[0],"leukodystrophy":[1],"(MLD)":[2],"is":[3,21,86,348,363],"a":[4,102,109,291,342],"devastating":[5],"rare":[6],"neurodegenerative":[7],"disease.":[8],"Typically,":[9],"loss":[10],"of":[11,33,68,82,171,177,201,218,225,240,243,248,287,304,313,324,345,357],"motor":[12],"and":[13,30,124,157,310],"cognitive":[14],"skills":[15],"precedes":[16],"early":[17,76,397],"death.":[18],"The":[19],"disease":[20],"characterised":[22],"by":[23,236,258,274,285,307],"deficient":[24],"lysosomal":[25],"arylsulphatase":[26],"A":[27,94,262],"(ARSA)":[28],"activity":[29,273],"an":[31,47],"accumulation":[32],"undegraded":[34],"sulphatide":[35,122,362],"due":[36],"to":[37,64,88,161,183,301,376,391],"pathogenic":[38],"variants":[39],"in":[40,59,62,79,105,166,173,195,206],"the":[41,60,80,119,125,132,192,207,215,237,279,336,377],"ARSA":[42,127,143,172,238,272,276],"gene.":[43],"Atidarsagene":[44],"autotemcel":[45],"(arsa-cel),":[46],"ex":[48],"vivo":[49],"haematopoietic":[50],"stem":[51],"cell":[52],"gene":[53,315],"therapy":[54,316],"was":[55,99,146,283,297,328,335],"approved":[56],"for":[57,118,152,211,278,350,366,384,389],"use":[58],"UK":[61,107,197],"2021":[63],"treat":[65],"early-onset":[66],"forms":[67],"pre-":[69],"or":[70,221,331],"early-symptomatic":[71],"MLD.":[72],"Optimal":[73],"outcomes":[74],"require":[75],"diagnosis,":[77],"but":[78],"absence":[81],"family":[83],"history":[84],"this":[85,167,196,259,288,305,325,358,372],"difficult":[87],"achieve":[89],"without":[90],"newborn":[91,382],"screening":[92,111,383],"(NBS).":[93],"pre-pilot":[95,133,198,208,373],"MLD":[96,253,295,367],"NBS":[97,178,204,250,289,326],"study":[98,104,359,374],"conducted":[100],"as":[101],"feasibility":[103],"Manchester":[106],"using":[108,138],"two-tiered":[110],"test":[112,136,281],"algorithm.":[113],"Pre-established":[114],"cutoff":[115],"values":[116],"(COV)":[117],"first-tier":[120,168],"C16:0":[121],"(C16:0-S)":[123],"second-tier":[126],"tests":[128],"were":[129,209,231],"evaluated.":[130],"Before":[131],"study,":[134],"initial":[135,280],"validation":[137,282],"non\u2011neonatal":[139],"diagnostic":[140],"bloodspots":[141,179],"demonstrated":[142],"pseudodeficiency":[144],"status":[145],"associated":[147],"with":[148],"normal":[149],"C16:0-S":[150,212,260,322],"results":[151,165],"age":[153],"(n":[154],"=":[155],"43)":[156],"hence":[158],"not":[159],"expected":[160],"cause":[162],"false":[163,265],"positive":[164,210],"test.":[169],"Instability":[170],"bloodspot":[174,327],"required":[175],"transfer":[176],"from":[180,252,394],"ambient":[181],"temperature":[182],"-20\u00b0C":[184],"storage":[185],"within":[186],"7-8":[187],"days":[188],"after":[189],"heel":[190],"prick,":[191],"earliest":[193],"possible":[194,388],"study.":[199],"Eleven":[200],"3687":[202],"de-identified":[203],"samples":[205,230,251],"based":[213],"on":[214],"pre-established":[216],"COV":[217,239,344],"\u2265170":[219],"nmol/l":[220,330],"\u2265":[222],"1.8":[223],"multiples":[224],"median":[226],"(MoM).":[227],"All":[228],"11":[229,318],"subsequently":[232],"tested":[233],"negative":[234,244,266],"determined":[235],"<20%":[241],"mean":[242,271],"controls.":[245],"However,":[246],"two":[247],"20":[249],"patients":[254,390],"would":[255],"be":[256],"missed":[257],"COV.":[261],"further":[263],"suspected":[264],"case":[267],"that":[268,380],"displayed":[269],"4%":[270],"single":[275],"analysis":[277,323],"confirmed":[284],"genotyping":[286],"bloodspot,":[290],"severe":[292],"late":[293],"infantile":[294],"phenotype":[296],"predicted.":[298],"This":[299,334],"led":[300],"urgent":[302],"assessment":[303],"child":[306],"authority":[308],"approval":[309],"timely":[311],"commencement":[312],"arsa-cel":[314],"at":[317],"months":[319],"old.":[320],"Secondary":[321],"150":[329],"1.67":[332],"MoM.":[333],"lowest":[337],"result":[338],"reported":[339],"thus":[340],"far,":[341],"new":[343],"1.65":[346],"MoM":[347],"recommended":[349],"future":[351],"pilot":[352],"studies.":[353],"Furthermore,":[354],"preliminary":[355],"data":[356],"showed":[360],"C16:1-OH":[361],"more":[364],"specific":[365],"than":[368],"C16:0-S.":[369],"In":[370],"conclusion,":[371],"adds":[375],"international":[378],"evidence":[379],"recommends":[381],"MLD,":[385],"making":[386],"it":[387],"benefit":[392],"fully":[393],"treatment":[395],"through":[396],"diagnosis.":[398]},"counts_by_year":[{"year":2026,"cited_by_count":7},{"year":2025,"cited_by_count":10},{"year":2024,"cited_by_count":4}],"updated_date":"2026-11-09T13:22:03.289127","created_date":"2024-03-05T00:00:00"}