{"id":"https://openalex.org/W2014881183","doi":"https://doi.org/10.1016/j.ymgme.2012.11.062","title":"Development program for an intrathecally (IT) administered recombinant human arylsulfatase A in children with metachromatic leukodystrophy (MLD)","display_name":"Development program for an intrathecally (IT) administered recombinant human arylsulfatase A in children with metachromatic leukodystrophy (MLD)","publication_year":2013,"publication_date":"2013-01-26","ids":{"openalex":"https://openalex.org/W2014881183","doi":"https://doi.org/10.1016/j.ymgme.2012.11.062","mag":"2014881183"},"language":"en","primary_location":{"id":"doi:10.1016/j.ymgme.2012.11.062","doi":"https://doi.org/10.1016/j.ymgme.2012.11.062","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.ymgme.2012.11.062","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":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Molecular Genetics and Metabolism","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5109270650","display_name":"Christine \u00ed Dali","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2802567020","display_name":"Copenhagen University Hospital","ror":"https://ror.org/05bpbnx46","country_code":"DK","type":"healthcare","lineage":["https://openalex.org/I2802567020"]}],"countries":["DK"],"is_corresponding":false,"raw_author_name":"Christine Dali","raw_affiliation_strings":["University Hospital, Copenhagen, DK, Denmark"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University Hospital, Copenhagen, DK, Denmark","institution_ids":["https://openalex.org/I2802567020"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5150747342","display_name":"Teresa L. Wright","orcid":"https://orcid.org/0000-0002-9174-9409","observed_orcids":["https://orcid.org/0000-0002-9174-9409"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Teresa L. Wright","raw_affiliation_strings":["Shire Human Genetic Therapies, Lexington, MA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Shire Human Genetic Therapies, Lexington, MA, USA","institution_ids":[]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5110069042","display_name":"Eric A. Crombez","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Eric Crombez","raw_affiliation_strings":["Shire Human Genetic Therapies, Lexington, MA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Shire Human Genetic Therapies, Lexington, MA, USA","institution_ids":[]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":3680,"currency":"USD","value_usd":3680},"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.13886279,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"108","issue":"2","first_page":"S32","last_page":"S32"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10945","display_name":"Lysosomal Storage Disorders Research","score":1.0,"subfield":{"id":"https://openalex.org/subfields/2737","display_name":"Physiology (medical)"},"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":1.0,"subfield":{"id":"https://openalex.org/subfields/2737","display_name":"Physiology (medical)"},"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/T12604","display_name":"Glycogen Storage Diseases and Myoclonus","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2745","display_name":"Rheumatology"},"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":0.0,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/metachromatic-leukodystrophy","display_name":"metachromatic leukodystrophy","score":0.925000011920929},{"id":"https://openalex.org/keywords/intrathecal-gene-therapy","display_name":"intrathecal gene therapy","score":0.8519999980926514},{"id":"https://openalex.org/keywords/lysosomal-storage-disorders","display_name":"lysosomal storage disease","score":0.7559999823570251},{"id":"https://openalex.org/keywords/fabry-disease","display_name":"Fabry disease","score":0.9350000023841858},{"id":"https://openalex.org/keywords/lyso-gb3","display_name":"lyso-Gb3","score":0.7900000214576721},{"id":"https://openalex.org/keywords/globotriaosylceramide","display_name":"globotriaosylceramide","score":0.9179999828338623},{"id":"https://openalex.org/keywords/biomarkers","display_name":"biomarkers","score":0.699999988079071},{"id":"https://openalex.org/keywords/left-ventricular-hypertrophy","display_name":"left ventricular hypertrophy","score":0.8199999928474426},{"id":"https://openalex.org/keywords/disease-severity","display_name":"disease severity","score":0.6830000281333923},{"id":"https://openalex.org/keywords/children","display_name":"children","score":0.35499998927116394}],"concepts":[{"id":"https://openalex.org/C2776326100","wikidata":"https://www.wikidata.org/wiki/Q1120682","display_name":"Metachromatic leukodystrophy","level":2,"score":0.9328938722610474},{"id":"https://openalex.org/C2777404818","wikidata":"https://www.wikidata.org/wiki/Q615645","display_name":"Fabry disease","level":3,"score":0.9205656051635742},{"id":"https://openalex.org/C2779247111","wikidata":"https://www.wikidata.org/wiki/Q424837","display_name":"Arylsulfatase A","level":3,"score":0.797500729560852},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.7698965668678284},{"id":"https://openalex.org/C2776002628","wikidata":"https://www.wikidata.org/wiki/Q1628627","display_name":"Left ventricular hypertrophy","level":3,"score":0.6314795613288879},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.5817978382110596},{"id":"https://openalex.org/C2777687718","wikidata":"https://www.wikidata.org/wiki/Q410539","display_name":"Globotriaosylceramide","level":4,"score":0.5801290273666382},{"id":"https://openalex.org/C2778264360","wikidata":"https://www.wikidata.org/wiki/Q675010","display_name":"Lysosomal storage disease","level":3,"score":0.5577031970024109},{"id":"https://openalex.org/C2779561371","wikidata":"https://www.wikidata.org/wiki/Q570197","display_name":"Proteinuria","level":3,"score":0.4901507794857025},{"id":"https://openalex.org/C2780221984","wikidata":"https://www.wikidata.org/wiki/Q131191","display_name":"Body mass index","level":2,"score":0.45954129099845886},{"id":"https://openalex.org/C61511704","wikidata":"https://www.wikidata.org/wiki/Q1671857","display_name":"Incidence (geometry)","level":2,"score":0.4588080644607544},{"id":"https://openalex.org/C72563966","wikidata":"https://www.wikidata.org/wiki/Q1303415","display_name":"Cohort","level":2,"score":0.4365094304084778},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.4054873585700989},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.4025253653526306},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.24257585406303406},{"id":"https://openalex.org/C84393581","wikidata":"https://www.wikidata.org/wiki/Q82642","display_name":"Blood pressure","level":2,"score":0.0797237753868103},{"id":"https://openalex.org/C2780091579","wikidata":"https://www.wikidata.org/wiki/Q9377","display_name":"Kidney","level":2,"score":0.0},{"id":"https://openalex.org/C120665830","wikidata":"https://www.wikidata.org/wiki/Q14620","display_name":"Optics","level":1,"score":0.0},{"id":"https://openalex.org/C121332964","wikidata":"https://www.wikidata.org/wiki/Q413","display_name":"Physics","level":0,"score":0.0}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1016/j.ymgme.2012.11.062","doi":"https://doi.org/10.1016/j.ymgme.2012.11.062","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.ymgme.2012.11.062","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":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":null,"sustainable_development_goals":[{"score":1.0,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2041891175","https://openalex.org/W2019476391","https://openalex.org/W2064265082","https://openalex.org/W2052834370","https://openalex.org/W2577288886","https://openalex.org/W2075886251","https://openalex.org/W1988946659","https://openalex.org/W3003332272","https://openalex.org/W2314961252","https://openalex.org/W2075401486"],"abstract_inverted_index":null,"counts_by_year":[],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}
