{"id":"https://openalex.org/W4391379703","doi":"https://doi.org/10.1016/j.ymgme.2023.107976","title":"Validation of GMFC-MLD scale as a measure of gross motor function in metachromatic leukodystrophy","display_name":"Validation of GMFC-MLD scale as a measure of gross motor function in metachromatic leukodystrophy","publication_year":2024,"publication_date":"2024-01-31","ids":{"openalex":"https://openalex.org/W4391379703","doi":"https://doi.org/10.1016/j.ymgme.2023.107976"},"language":"en","primary_location":{"id":"doi:10.1016/j.ymgme.2023.107976","doi":"https://doi.org/10.1016/j.ymgme.2023.107976","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.ymgme.2023.107976","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/A5093827315","display_name":"Sylvia Mutua","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Sylvia Mutua","raw_affiliation_strings":["Children's Hospital of Philadelphia, Philadelphia, PA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Children's Hospital of Philadelphia, Philadelphia, PA, USA","institution_ids":["https://openalex.org/I1335321130"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5027817192","display_name":"Anjana Sevagamoorthy","orcid":"https://orcid.org/0000-0002-9212-2501","observed_orcids":["https://orcid.org/0000-0002-9212-2501"]},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Anjana Sevagamoorthy","raw_affiliation_strings":["Children's Hospital of Philadelphia, Philadelphia, PA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Children's Hospital of Philadelphia, Philadelphia, PA, USA","institution_ids":["https://openalex.org/I1335321130"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5065715672","display_name":"Francesco Gavazzi","orcid":"https://orcid.org/0000-0002-4908-8395","observed_orcids":["https://orcid.org/0000-0002-4908-8395"]},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Francesco Gavazzi","raw_affiliation_strings":["Children's Hospital of Philadelphia, Philadelphia, PA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Children's Hospital of Philadelphia, Philadelphia, PA, USA","institution_ids":["https://openalex.org/I1335321130"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5008914939","display_name":"Nivedita Thakur","orcid":"https://orcid.org/0000-0003-4307-298X","observed_orcids":["https://orcid.org/0000-0003-4307-298X"]},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Nivedita Thakur","raw_affiliation_strings":["Children's Hospital of Philadelphia, Philadelphia, PA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Children's Hospital of Philadelphia, Philadelphia, PA, USA","institution_ids":["https://openalex.org/I1335321130"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5047847533","display_name":"Sarah Woidill","orcid":"https://orcid.org/0009-0001-9874-8089","observed_orcids":["https://orcid.org/0009-0001-9874-8089"]},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Sarah Woidill","raw_affiliation_strings":["Children's Hospital of Philadelphia, Philadelphia, PA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Children's Hospital of Philadelphia, Philadelphia, PA, USA","institution_ids":["https://openalex.org/I1335321130"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111547080","display_name":"Emily J. Yu","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Emily Yu","raw_affiliation_strings":["Children's Hospital of Philadelphia, Philadelphia, PA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Children's Hospital of Philadelphia, Philadelphia, PA, USA","institution_ids":["https://openalex.org/I1335321130"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5085410916","display_name":"Francesca Fumagalli","orcid":"https://orcid.org/0000-0001-7476-4087","observed_orcids":["https://orcid.org/0000-0001-7476-4087"]},"institutions":[{"id":"https://openalex.org/I4210142418","display_name":"The San Raffaele Telethon Institute for Gene Therapy","ror":"https://ror.org/036jn4298","country_code":"IT","type":"facility","lineage":["https://openalex.org/I4210133214","https://openalex.org/I4210142418","https://openalex.org/I4210153126","https://openalex.org/I4210154366"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Francesca Fumagalli","raw_affiliation_strings":["San Raffaele Telethon Institute for Gene Therapy (SR-TIGET), IRCCS San Raffaele Scientific Institute, Milan, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"San Raffaele Telethon Institute for Gene Therapy (SR-TIGET), IRCCS San Raffaele Scientific Institute, Milan, Italy","institution_ids":["https://openalex.org/I4210142418"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5063857357","display_name":"Samuel Groeschel","orcid":"https://orcid.org/0000-0002-2706-7163","observed_orcids":["https://orcid.org/0000-0002-2706-7163"]},"institutions":[{"id":"https://openalex.org/I4210125796","display_name":"University Children's Hospital T\u00fcbingen","ror":"https://ror.org/03esvmb28","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210094118","https://openalex.org/I4210125796"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Samuel Groeschel","raw_affiliation_strings":["Children's Hospital, T\u00fcbingen, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Children's Hospital, T\u00fcbingen, Germany","institution_ids":["https://openalex.org/I4210125796"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5008619086","display_name":"Genevi\u00e8ve Bernard","orcid":"https://orcid.org/0000-0002-9634-2966","observed_orcids":["https://orcid.org/0000-0002-9634-2966"]},"institutions":[{"id":"https://openalex.org/I2801766832","display_name":"McGill University Health Centre","ror":"https://ror.org/04cpxjv19","country_code":"CA","type":"healthcare","lineage":["https://openalex.org/I2801766832","https://openalex.org/I2801902503","https://openalex.org/I4210139015","https://openalex.org/I4405279980"]},{"id":"https://openalex.org/I4405263283","display_name":"Research Institute of the McGill University Health Centre","ror":"https://ror.org/04pemf943","country_code":"CA","type":"government","lineage":["https://openalex.org/I2801766832","https://openalex.org/I2801902503","https://openalex.org/I4210139015","https://openalex.org/I4405263283","https://openalex.org/I4405279980"]},{"id":"https://openalex.org/I5023651","display_name":"McGill University","ror":"https://ror.org/01pxwe438","country_code":"CA","type":"education","lineage":["https://openalex.org/I5023651"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Genevieve Bernard","raw_affiliation_strings":["McGill University Health Center (MUHC) and MUHC Research Institute, Montreal, QC, Canada"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"McGill University Health Center (MUHC) and MUHC Research Institute, Montreal, QC, Canada","institution_ids":["https://openalex.org/I2801766832","https://openalex.org/I4405263283","https://openalex.org/I5023651"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5112644199","display_name":"Chloe Stutterd","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210150290","display_name":"Murdoch Children's Research Institute","ror":"https://ror.org/048fyec77","country_code":"AU","type":"nonprofit","lineage":["https://openalex.org/I4210150290"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Chloe Stutterd","raw_affiliation_strings":["Murdoch Children's Research Institute, Parkville, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Murdoch Children's Research Institute, Parkville, Australia","institution_ids":["https://openalex.org/I4210150290"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5087744197","display_name":"Christiane Kehrer","orcid":"https://orcid.org/0000-0002-6313-1839","observed_orcids":["https://orcid.org/0000-0002-6313-1839"]},"institutions":[{"id":"https://openalex.org/I4210125796","display_name":"University Children's Hospital T\u00fcbingen","ror":"https://ror.org/03esvmb28","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210094118","https://openalex.org/I4210125796"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Christiane Kehrer","raw_affiliation_strings":["Children's Hospital, T\u00fcbingen, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Children's Hospital, T\u00fcbingen, Germany","institution_ids":["https://openalex.org/I4210125796"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5085560952","display_name":"Lisa Emrick","orcid":"https://orcid.org/0000-0002-4844-9056","observed_orcids":["https://orcid.org/0000-0002-4844-9056"]},"institutions":[{"id":"https://openalex.org/I181547552","display_name":"Baylor College of Medicine","ror":"https://ror.org/02pttbw34","country_code":"US","type":"education","lineage":["https://openalex.org/I181547552","https://openalex.org/I2801539370"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Lisa Emrick","raw_affiliation_strings":["Baylor College of Medicine, Houston, TX, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Baylor College of Medicine, Houston, TX, USA","institution_ids":["https://openalex.org/I181547552"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5002520132","display_name":"Justine Shults A","orcid":"https://orcid.org/0000-0002-0266-0980","observed_orcids":["https://orcid.org/0000-0002-0266-0980"]},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Justine Shults","raw_affiliation_strings":["Children's Hospital of Philadelphia, Philadelphia, PA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Children's Hospital of Philadelphia, Philadelphia, PA, USA","institution_ids":["https://openalex.org/I1335321130"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5013089390","display_name":"Adeline L. Vanderver","orcid":"https://orcid.org/0000-0002-6290-6751","observed_orcids":["https://orcid.org/0000-0002-6290-6751"]},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Adeline Vanderver","raw_affiliation_strings":["Children's Hospital of Philadelphia, Philadelphia, PA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Children's Hospital of Philadelphia, Philadelphia, PA, USA","institution_ids":["https://openalex.org/I1335321130"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5004600852","display_name":"Laura Ann Adang","orcid":"https://orcid.org/0000-0002-8454-1116","observed_orcids":["https://orcid.org/0000-0002-8454-1116"]},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Laura A. Adang","raw_affiliation_strings":["Children's Hospital of Philadelphia, Philadelphia, PA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Children's Hospital of Philadelphia, Philadelphia, PA, USA","institution_ids":["https://openalex.org/I1335321130"]}]}],"institutions":[],"countries_distinct_count":5,"institutions_distinct_count":8,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":3570,"currency":"USD","value_usd":3570},"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.01470912,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"141","issue":"2","first_page":"107976","last_page":"107976"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10945","display_name":"Lysosomal Storage Disorders Research","score":0.9794999957084656,"subfield":{"id":"https://openalex.org/subfields/2737","display_name":"Physiology"},"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":0.9794999957084656,"subfield":{"id":"https://openalex.org/subfields/2737","display_name":"Physiology"},"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":0.007199999876320362,"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/T12331","display_name":"Hereditary Neurological Disorders","score":0.002300000051036477,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/metachromatic-leukodystrophy","display_name":"metachromatic leukodystrophy","score":0.9710000157356262},{"id":"https://openalex.org/keywords/gross-motor-function","display_name":"gross motor function","score":0.9509999752044678},{"id":"https://openalex.org/keywords/scale-validation","display_name":"scale validation","score":0.7799999713897705},{"id":"https://openalex.org/keywords/motor-function-assessment","display_name":"motor function assessment","score":0.7559999823570251},{"id":"https://openalex.org/keywords/lysosomal-storage-disorders","display_name":"lysosomal storage disease","score":0.8479999899864197}],"concepts":[{"id":"https://openalex.org/C2776326100","wikidata":"https://www.wikidata.org/wiki/Q1120682","display_name":"Metachromatic leukodystrophy","level":2,"score":0.9228861331939697},{"id":"https://openalex.org/C2780009758","wikidata":"https://www.wikidata.org/wiki/Q6804172","display_name":"Measure (data warehouse)","level":2,"score":0.6038891673088074},{"id":"https://openalex.org/C2778755073","wikidata":"https://www.wikidata.org/wiki/Q10858537","display_name":"Scale (ratio)","level":2,"score":0.5161717534065247},{"id":"https://openalex.org/C2776100374","wikidata":"https://www.wikidata.org/wiki/Q1821559","display_name":"Leukodystrophy","level":3,"score":0.41103309392929077},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.3401355743408203},{"id":"https://openalex.org/C99508421","wikidata":"https://www.wikidata.org/wiki/Q2678675","display_name":"Physical medicine and rehabilitation","level":1,"score":0.3383792042732239},{"id":"https://openalex.org/C121332964","wikidata":"https://www.wikidata.org/wiki/Q413","display_name":"Physics","level":0,"score":0.2273128628730774},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.1602708101272583},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.1297627091407776},{"id":"https://openalex.org/C124101348","wikidata":"https://www.wikidata.org/wiki/Q172491","display_name":"Data mining","level":1,"score":0.04817378520965576},{"id":"https://openalex.org/C62520636","wikidata":"https://www.wikidata.org/wiki/Q944","display_name":"Quantum mechanics","level":1,"score":0.0},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.0}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1016/j.ymgme.2023.107976","doi":"https://doi.org/10.1016/j.ymgme.2023.107976","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.ymgme.2023.107976","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":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.8048999905586243}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2166995213","https://openalex.org/W4406981823","https://openalex.org/W3126301978","https://openalex.org/W2507773557","https://openalex.org/W2522428514","https://openalex.org/W1550751140","https://openalex.org/W131897485","https://openalex.org/W7203608664","https://openalex.org/W3009437484","https://openalex.org/W4391380141"],"abstract_inverted_index":null,"counts_by_year":[],"updated_date":"2026-10-26T11:51:55.731654","created_date":"2024-02-01T00:00:00"}
