Get quick answers to your questions about the article from our AI researcher chatbot
{'id': 'https://openalex.org/W4210515033', 'doi': 'https://doi.org/10.1186/s13256-021-03240-3', 'title': 'Fifteen years of enzyme replacement therapy for mucopolysaccharidosis type VI (Maroteaux–Lamy syndrome): a case report', 'display_name': 'Fifteen years of enzyme replacement therapy for mucopolysaccharidosis type VI (Maroteaux–Lamy syndrome): a case report', 'publication_year': 2022, 'publication_date': '2022-01-25', 'ids': {'openalex': 'https://openalex.org/W4210515033', 'doi': 'https://doi.org/10.1186/s13256-021-03240-3', 'pmid': 'https://pubmed.ncbi.nlm.nih.gov/35078524'}, 'language': 'en', 'primary_location': {'is_oa': True, 'landing_page_url': 'https://doi.org/10.1186/s13256-021-03240-3', 'pdf_url': 'https://jmedicalcasereports.biomedcentral.com/track/pdf/10.1186/s13256-021-03240-3', 'source': {'id': 'https://openalex.org/S162052592', 'display_name': 'Journal of Medical Case Reports', 'issn_l': '1752-1947', 'issn': ['1752-1947'], 'is_oa': True, 'is_in_doaj': True, 'is_core': True, 'host_organization': 'https://openalex.org/P4310320256', 'host_organization_name': 'BioMed Central', 'host_organization_lineage': ['https://openalex.org/P4310319965', 'https://openalex.org/P4310320256'], 'host_organization_lineage_names': ['Springer Nature', 'BioMed Central'], 'type': 'journal'}, 'license': 'cc-by', 'license_id': 'https://openalex.org/licenses/cc-by', 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, 'type': 'article', 'type_crossref': 'journal-article', 'indexed_in': ['crossref', 'doaj', 'pubmed'], 'open_access': {'is_oa': True, 'oa_status': 'gold', 'oa_url': 'https://jmedicalcasereports.biomedcentral.com/track/pdf/10.1186/s13256-021-03240-3', 'any_repository_has_fulltext': True}, 'authorships': [{'author_position': 'first', 'author': {'id': 'https://openalex.org/A5029250533', 'display_name': 'Isadora Andrade', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I1331278255', 'display_name': 'Universidade de Ribeirão Preto', 'ror': 'https://ror.org/00ey54k21', 'country_code': 'BR', 'type': 'education', 'lineage': ['https://openalex.org/I1331278255']}], 'countries': ['BR'], 'is_corresponding': False, 'raw_author_name': 'Isadora Andrade', 'raw_affiliation_strings': ['Faculdade de Medicina, Centro Universitário Estácio de Ribeirão Preto, Ribeirão Preto, Brazil'], 'affiliations': [{'raw_affiliation_string': 'Faculdade de Medicina, Centro Universitário Estácio de Ribeirão Preto, Ribeirão Preto, Brazil', 'institution_ids': ['https://openalex.org/I1331278255']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5103967286', 'display_name': 'River Ribeiro', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I1331278255', 'display_name': 'Universidade de Ribeirão Preto', 'ror': 'https://ror.org/00ey54k21', 'country_code': 'BR', 'type': 'education', 'lineage': ['https://openalex.org/I1331278255']}], 'countries': ['BR'], 'is_corresponding': False, 'raw_author_name': 'River Ribeiro', 'raw_affiliation_strings': ['Faculdade de Medicina, Centro Universitário Estácio de Ribeirão Preto, Ribeirão Preto, Brazil'], 'affiliations': [{'raw_affiliation_string': 'Faculdade de Medicina, Centro Universitário Estácio de Ribeirão Preto, Ribeirão Preto, Brazil', 'institution_ids': ['https://openalex.org/I1331278255']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5000789953', 'display_name': 'Zumira Aparecida Carneiro', 'orcid': 'https://orcid.org/0000-0002-2374-8148'}, 'institutions': [{'id': 'https://openalex.org/I1331278255', 'display_name': 'Universidade de Ribeirão Preto', 'ror': 'https://ror.org/00ey54k21', 'country_code': 'BR', 'type': 'education', 'lineage': ['https://openalex.org/I1331278255']}], 'countries': ['BR'], 'is_corresponding': False, 'raw_author_name': 'Zumira A. Carneiro', 'raw_affiliation_strings': ['Faculdade de Medicina, Centro Universitário Estácio de Ribeirão Preto, Ribeirão Preto, Brazil'], 'affiliations': [{'raw_affiliation_string': 'Faculdade de Medicina, Centro Universitário Estácio de Ribeirão Preto, Ribeirão Preto, Brazil', 'institution_ids': ['https://openalex.org/I1331278255']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5089564343', 'display_name': 'Roberto Giugliani', 'orcid': 'https://orcid.org/0000-0001-9655-3686'}, 'institutions': [{'id': 'https://openalex.org/I4210097146', 'display_name': 'Hospital de Clínicas de Porto Alegre', 'ror': 'https://ror.org/010we4y38', 'country_code': 'BR', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210097146']}, {'id': 'https://openalex.org/I130442723', 'display_name': 'Universidade Federal do Rio Grande do Sul', 'ror': 'https://ror.org/041yk2d64', 'country_code': 'BR', 'type': 'education', 'lineage': ['https://openalex.org/I130442723']}], 'countries': ['BR'], 'is_corresponding': False, 'raw_author_name': 'Roberto Giugliani', 'raw_affiliation_strings': ['Departamento de Genética, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil', 'Serviço de Genética Médica e Grupo de Pesquisa DR BRASIL, Hospital das Clínicas de Porto Alegre, Porto Alegre, Brazil'], 'affiliations': [{'raw_affiliation_string': 'Serviço de Genética Médica e Grupo de Pesquisa DR BRASIL, Hospital das Clínicas de Porto Alegre, Porto Alegre, Brazil', 'institution_ids': ['https://openalex.org/I4210097146']}, {'raw_affiliation_string': 'Departamento de Genética, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil', 'institution_ids': ['https://openalex.org/I130442723']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5091098373', 'display_name': 'Catarina Pereira', 'orcid': 'https://orcid.org/0000-0002-8437-7432'}, 'institutions': [{'id': 'https://openalex.org/I4210138188', 'display_name': 'Centogene (Germany)', 'ror': 'https://ror.org/03ccx3r49', 'country_code': 'DE', 'type': 'company', 'lineage': ['https://openalex.org/I4210138188']}], 'countries': ['DE'], 'is_corresponding': False, 'raw_author_name': 'Catarina Pereira', 'raw_affiliation_strings': ['Centogene AG, Rostock, Germany'], 'affiliations': [{'raw_affiliation_string': 'Centogene AG, Rostock, Germany', 'institution_ids': ['https://openalex.org/I4210138188']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5081597814', 'display_name': 'Claudia Cozma', 'orcid': 'https://orcid.org/0000-0001-9841-1104'}, 'institutions': [{'id': 'https://openalex.org/I4210138188', 'display_name': 'Centogene (Germany)', 'ror': 'https://ror.org/03ccx3r49', 'country_code': 'DE', 'type': 'company', 'lineage': ['https://openalex.org/I4210138188']}], 'countries': ['DE'], 'is_corresponding': False, 'raw_author_name': 'Claudia Cozma', 'raw_affiliation_strings': ['Centogene AG, Rostock, Germany'], 'affiliations': [{'raw_affiliation_string': 'Centogene AG, Rostock, Germany', 'institution_ids': ['https://openalex.org/I4210138188']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5033638665', 'display_name': 'Daniel Grinberg', 'orcid': 'https://orcid.org/0000-0001-9859-2590'}, 'institutions': [{'id': 'https://openalex.org/I71999127', 'display_name': 'Universitat de Barcelona', 'ror': 'https://ror.org/021018s57', 'country_code': 'ES', 'type': 'education', 'lineage': ['https://openalex.org/I71999127']}, {'id': 'https://openalex.org/I4210115082', 'display_name': 'Centro de Investigación Biomédica en Red', 'ror': 'https://ror.org/02g87qh62', 'country_code': 'ES', 'type': 'facility', 'lineage': ['https://openalex.org/I2801357902', 'https://openalex.org/I4210115082', 'https://openalex.org/I4387152914']}], 'countries': ['ES'], 'is_corresponding': False, 'raw_author_name': 'Daniel Grinberg', 'raw_affiliation_strings': ['Departament de Genètica, Microbiologia i Estadística, Facultat de Biologia, Universitat de Barcelona, CIBERER, IBUB, IRSJD, Barcelona, Spain'], 'affiliations': [{'raw_affiliation_string': 'Departament de Genètica, Microbiologia i Estadística, Facultat de Biologia, Universitat de Barcelona, CIBERER, IBUB, IRSJD, Barcelona, Spain', 'institution_ids': ['https://openalex.org/I71999127', 'https://openalex.org/I4210115082']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5059191087', 'display_name': 'Lluı̈sa Vilageliu', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I71999127', 'display_name': 'Universitat de Barcelona', 'ror': 'https://ror.org/021018s57', 'country_code': 'ES', 'type': 'education', 'lineage': ['https://openalex.org/I71999127']}, {'id': 'https://openalex.org/I4210115082', 'display_name': 'Centro de Investigación Biomédica en Red', 'ror': 'https://ror.org/02g87qh62', 'country_code': 'ES', 'type': 'facility', 'lineage': ['https://openalex.org/I2801357902', 'https://openalex.org/I4210115082', 'https://openalex.org/I4387152914']}], 'countries': ['ES'], 'is_corresponding': False, 'raw_author_name': 'Lluïsa Vilageliu', 'raw_affiliation_strings': ['Departament de Genètica, Microbiologia i Estadística, Facultat de Biologia, Universitat de Barcelona, CIBERER, IBUB, IRSJD, Barcelona, Spain'], 'affiliations': [{'raw_affiliation_string': 'Departament de Genètica, Microbiologia i Estadística, Facultat de Biologia, Universitat de Barcelona, CIBERER, IBUB, IRSJD, Barcelona, Spain', 'institution_ids': ['https://openalex.org/I71999127', 'https://openalex.org/I4210115082']}]}, {'author_position': 'last', 'author': {'id': 'https://openalex.org/A5033262447', 'display_name': 'Charles Marques Lourenço', 'orcid': 'https://orcid.org/0000-0002-2296-6098'}, 'institutions': [{'id': 'https://openalex.org/I1331278255', 'display_name': 'Universidade de Ribeirão Preto', 'ror': 'https://ror.org/00ey54k21', 'country_code': 'BR', 'type': 'education', 'lineage': ['https://openalex.org/I1331278255']}], 'countries': ['BR'], 'is_corresponding': True, 'raw_author_name': 'Charles M. Lourenco', 'raw_affiliation_strings': ['Faculdade de Medicina, Centro Universitário Estácio de Ribeirão Preto, Ribeirão Preto, Brazil'], 'affiliations': [{'raw_affiliation_string': 'Faculdade de Medicina, Centro Universitário Estácio de Ribeirão Preto, Ribeirão Preto, Brazil', 'institution_ids': ['https://openalex.org/I1331278255']}]}], 'institution_assertions': [], 'countries_distinct_count': 3, 'institutions_distinct_count': 6, 'corresponding_author_ids': ['https://openalex.org/A5033262447'], 'corresponding_institution_ids': ['https://openalex.org/I1331278255'], 'apc_list': {'value': 1690, 'currency': 'GBP', 'value_usd': 2072, 'provenance': 'doaj'}, 'apc_paid': {'value': 1690, 'currency': 'GBP', 'value_usd': 2072, 'provenance': 'doaj'}, 'fwci': 0.652, 'has_fulltext': True, 'fulltext_origin': 'pdf', 'cited_by_count': 3, 'citation_normalized_percentile': {'value': 0.472263, 'is_in_top_1_percent': False, 'is_in_top_10_percent': False}, 'cited_by_percentile_year': {'min': 76, 'max': 80}, 'biblio': {'volume': '16', 'issue': '1', 'first_page': None, 'last_page': None}, 'is_retracted': False, 'is_paratext': 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'}, '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'}, '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/T10890', 'display_name': 'Trypanosoma species research and implications', 'score': 0.9788, 'subfield': {'id': 'https://openalex.org/subfields/2713', 'display_name': 'Epidemiology'}, '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/T14415', 'display_name': 'Biomedical Research and Pathophysiology', 'score': 0.94, 'subfield': {'id': 'https://openalex.org/subfields/2734', 'display_name': 'Pathology and Forensic Medicine'}, 'field': {'id': 'https://openalex.org/fields/27', 'display_name': 'Medicine'}, 'domain': {'id': 'https://openalex.org/domains/4', 'display_name': 'Health Sciences'}}], 'keywords': [{'id': 'https://openalex.org/keywords/mucopolysaccharidosis', 'display_name': 'Mucopolysaccharidosis', 'score': 0.7520814}, {'id': 'https://openalex.org/keywords/mucopolysaccharidosis-i', 'display_name': 'Mucopolysaccharidosis I', 'score': 0.5410501}, {'id': 'https://openalex.org/keywords/lysosomal-storage-disease', 'display_name': 'Lysosomal storage disease', 'score': 0.43865934}, {'id': 'https://openalex.org/keywords/substrate-reduction-therapy', 'display_name': 'Substrate reduction therapy', 'score': 0.42229733}, {'id': 'https://openalex.org/keywords/mucopolysaccharidosis-type-ii', 'display_name': 'Mucopolysaccharidosis type II', 'score': 0.41481924}], 'concepts': [{'id': 'https://openalex.org/C2779969927', 'wikidata': 'https://www.wikidata.org/wiki/Q916766', 'display_name': 'Enzyme replacement therapy', 'level': 3, 'score': 0.9847359}, {'id': 'https://openalex.org/C71924100', 'wikidata': 'https://www.wikidata.org/wiki/Q11190', 'display_name': 'Medicine', 'level': 0, 'score': 0.7887552}, {'id': 'https://openalex.org/C2779416428', 'wikidata': 'https://www.wikidata.org/wiki/Q1479681', 'display_name': 'Mucopolysaccharidosis', 'level': 2, 'score': 0.7520814}, {'id': 'https://openalex.org/C2910727661', 'wikidata': 'https://www.wikidata.org/wiki/Q25379699', 'display_name': 'Mucopolysaccharidosis I', 'level': 4, 'score': 0.5410501}, {'id': 'https://openalex.org/C126322002', 'wikidata': 'https://www.wikidata.org/wiki/Q11180', 'display_name': 'Internal medicine', 'level': 1, 'score': 0.48240173}, {'id': 'https://openalex.org/C2778264360', 'wikidata': 'https://www.wikidata.org/wiki/Q675010', 'display_name': 'Lysosomal storage disease', 'level': 3, 'score': 0.43865934}, {'id': 'https://openalex.org/C21850170', 'wikidata': 'https://www.wikidata.org/wiki/Q1406265', 'display_name': 'Substrate reduction therapy', 'level': 4, 'score': 0.42229733}, {'id': 'https://openalex.org/C2910638406', 'wikidata': 'https://www.wikidata.org/wiki/Q1529983', 'display_name': 'Mucopolysaccharidosis type II', 'level': 4, 'score': 0.41481924}, {'id': 'https://openalex.org/C134018914', 'wikidata': 'https://www.wikidata.org/wiki/Q162606', 'display_name': 'Endocrinology', 'level': 1, 'score': 0.3947299}, {'id': 'https://openalex.org/C2779134260', 'wikidata': 'https://www.wikidata.org/wiki/Q12136', 'display_name': 'Disease', 'level': 2, 'score': 0.33820522}], 'mesh': [{'descriptor_ui': 'D002349', 'descriptor_name': 'Carpal Tunnel Syndrome', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': True}, {'descriptor_ui': 'D009087', 'descriptor_name': 'Mucopolysaccharidosis VI', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': True}, {'descriptor_ui': 'D000293', 'descriptor_name': 'Adolescent', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D000328', 'descriptor_name': 'Adult', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D056947', 'descriptor_name': 'Enzyme Replacement Therapy', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D006025', 'descriptor_name': 'Glycosaminoglycans', 'qualifier_ui': 'Q000627', 'qualifier_name': 'therapeutic use', 'is_major_topic': False}, {'descriptor_ui': 'D006025', 'descriptor_name': 'Glycosaminoglycans', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D006801', 'descriptor_name': 'Humans', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D008297', 'descriptor_name': 'Male', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D009087', 'descriptor_name': 'Mucopolysaccharidosis VI', 'qualifier_ui': 'Q000188', 'qualifier_name': 'drug therapy', 'is_major_topic': False}, {'descriptor_ui': 'D011788', 'descriptor_name': 'Quality of Life', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}], 'locations_count': 5, 'locations': [{'is_oa': True, 'landing_page_url': 'https://doi.org/10.1186/s13256-021-03240-3', 'pdf_url': 'https://jmedicalcasereports.biomedcentral.com/track/pdf/10.1186/s13256-021-03240-3', 'source': {'id': 'https://openalex.org/S162052592', 'display_name': 'Journal of Medical Case Reports', 'issn_l': '1752-1947', 'issn': ['1752-1947'], 'is_oa': True, 'is_in_doaj': True, 'is_core': True, 'host_organization': 'https://openalex.org/P4310320256', 'host_organization_name': 'BioMed Central', 'host_organization_lineage': ['https://openalex.org/P4310319965', 'https://openalex.org/P4310320256'], 'host_organization_lineage_names': ['Springer Nature', 'BioMed Central'], 'type': 'journal'}, 'license': 'cc-by', 'license_id': 'https://openalex.org/licenses/cc-by', 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, {'is_oa': False, 'landing_page_url': 'https://doaj.org/article/6ddbc9dc239d45769128ef2220eba000', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S4306401280', 'display_name': 'DOAJ (DOAJ: Directory of Open Access Journals)', 'issn_l': None, 'issn': None, 'is_oa': True, 'is_in_doaj': False, 'is_core': False, 'host_organization': None, 'host_organization_name': None, 'host_organization_lineage': [], 'host_organization_lineage_names': [], 'type': 'repository'}, 'license': None, 'license_id': None, 'version': None, 'is_accepted': False, 'is_published': False}, {'is_oa': True, 'landing_page_url': 'http://hdl.handle.net/2445/186001', 'pdf_url': 'http://diposit.ub.edu/dspace/bitstream/2445/186001/1/717934.pdf', 'source': {'id': 'https://openalex.org/S4306401653', 'display_name': 'Dipòsit Digital de la Universitat de Barcelona (Universitat de Barcelona)', 'issn_l': None, 'issn': None, 'is_oa': True, 'is_in_doaj': False, 'is_core': False, 'host_organization': 'https://openalex.org/I71999127', 'host_organization_name': 'Universitat de Barcelona', 'host_organization_lineage': ['https://openalex.org/I71999127'], 'host_organization_lineage_names': ['Universitat de Barcelona'], 'type': 'repository'}, 'license': 'cc-by', 'license_id': 'https://openalex.org/licenses/cc-by', 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, {'is_oa': True, 'landing_page_url': 'https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8787900', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S2764455111', 'display_name': 'PubMed Central', 'issn_l': None, 'issn': None, 'is_oa': True, 'is_in_doaj': False, 'is_core': False, 'host_organization': 'https://openalex.org/I1299303238', 'host_organization_name': 'National Institutes of Health', 'host_organization_lineage': ['https://openalex.org/I1299303238'], 'host_organization_lineage_names': ['National Institutes of Health'], 'type': 'repository'}, 'license': None, 'license_id': None, 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, {'is_oa': False, 'landing_page_url': 'https://pubmed.ncbi.nlm.nih.gov/35078524', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S4306525036', 'display_name': 'PubMed', 'issn_l': None, 'issn': None, 'is_oa': False, 'is_in_doaj': False, 'is_core': False, 'host_organization': 'https://openalex.org/I1299303238', 'host_organization_name': 'National Institutes of Health', 'host_organization_lineage': ['https://openalex.org/I1299303238'], 'host_organization_lineage_names': ['National Institutes of Health'], 'type': 'repository'}, 'license': None, 'license_id': None, 'version': None, 'is_accepted': False, 'is_published': False}], 'best_oa_location': {'is_oa': True, 'landing_page_url': 'https://doi.org/10.1186/s13256-021-03240-3', 'pdf_url': 'https://jmedicalcasereports.biomedcentral.com/track/pdf/10.1186/s13256-021-03240-3', 'source': {'id': 'https://openalex.org/S162052592', 'display_name': 'Journal of Medical Case Reports', 'issn_l': '1752-1947', 'issn': ['1752-1947'], 'is_oa': True, 'is_in_doaj': True, 'is_core': True, 'host_organization': 'https://openalex.org/P4310320256', 'host_organization_name': 'BioMed Central', 'host_organization_lineage': ['https://openalex.org/P4310319965', 'https://openalex.org/P4310320256'], 'host_organization_lineage_names': ['Springer Nature', 'BioMed Central'], 'type': 'journal'}, 'license': 'cc-by', 'license_id': 'https://openalex.org/licenses/cc-by', 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, 'sustainable_development_goals': [{'score': 0.66, 'id': 'https://metadata.un.org/sdg/3', 'display_name': 'Good health and well-being'}], 'grants': [], 'datasets': [], 'versions': [], 'referenced_works_count': 21, 'referenced_works': ['https://openalex.org/W1560427081', 'https://openalex.org/W1789921605', 'https://openalex.org/W1973216138', 'https://openalex.org/W1977499972', 'https://openalex.org/W2003641716', 'https://openalex.org/W2004988832', 'https://openalex.org/W2013018264', 'https://openalex.org/W2043215592', 'https://openalex.org/W2045077574', 'https://openalex.org/W2096683701', 'https://openalex.org/W2135430176', 'https://openalex.org/W2164020569', 'https://openalex.org/W2167018562', 'https://openalex.org/W2408825874', 'https://openalex.org/W2415339601', 'https://openalex.org/W2546540311', 'https://openalex.org/W2614332825', 'https://openalex.org/W2789920809', 'https://openalex.org/W2939357170', 'https://openalex.org/W3209992856', 'https://openalex.org/W4211029489'], 'related_works': ['https://openalex.org/W4389778018', 'https://openalex.org/W4238863489', 'https://openalex.org/W2783930671', 'https://openalex.org/W2730256329', 'https://openalex.org/W2086701205', 'https://openalex.org/W2085691459', 'https://openalex.org/W2078581371', 'https://openalex.org/W2028706623', 'https://openalex.org/W2002593000', 'https://openalex.org/W2001982317'], 'abstract_inverted_index': {'Abstract': [0], 'Background': [1], 'Mucopolysaccharidosis': [2, 44], 'VI,': [3, 168], 'or': [4], 'Maroteaux–Lamy': [5], 'disease,': [6, 96], 'is': [7, 76], 'an': [8], 'autosomal': [9], 'recessive': [10], 'disease': [11], 'characterized': [12], 'by': [13], 'deficiency': [14], 'of': [15, 24, 61, 63, 94, 99, 166, 202], 'the': [16, 21, 59, 64, 77, 92, 95, 97, 163, 185, 191, 200, 203], 'enzyme': [17, 32, 88, 101, 121, 157, 174, 195], 'arylsulfatase': [18], 'B': [19], 'in': [20], 'lysosomal': [22], 'catabolism': [23], 'glycosaminoglycans.': [25], 'Due': [26], 'to': [27, 40], 'reduced': [28, 47], '(or': [29], 'even': [30], 'null)': [31], 'activity,': [33], 'glycosaminoglycans': [34], '(mainly': [35], 'dermatan': [36], 'sulfate)': [37], 'accumulates,': [38], 'leading': [39], 'a': [41, 180], 'multisystemic': [42], 'disease.': [43, 204], 'VI': [45, 117], 'induces': [46], 'growth,': [48], 'coarse': [49], 'face,': [50], 'audiovisual': [51], 'deficits,': [52], 'osteoarticular': [53], 'deformities,': [54], 'and': [55, 150, 152], 'cardiorespiratory': [56], 'issues,': [57], 'hampering': [58], 'quality': [60], 'life': [62], 'patient.': [65], 'Enzyme': [66, 128], 'replacement': [67, 89, 102, 122, 129, 158, 175, 196], 'therapy': [68, 90, 103, 123, 130, 159, 176, 197], 'with': [69, 115, 120, 179, 184], 'galsulfase': [70], '(Naglazyme,': [71], 'BioMarin': [72], 'Pharmaceuticals': [73], 'Inc.,': [74], 'USA)': [75], 'specific': [78], 'treatment': [79], 'for': [80, 124], 'this': [81], 'condition.': [82], 'Although': [83, 156], 'studies': [84], 'have': [85], 'shown': [86], 'that': [87, 194], 'slows': [91], 'progression': [93], 'effects': [98], 'long-term': [100], 'remain': [104], 'poorly': [105], 'understood.': [106], 'Case': [107], 'presentation': [108], 'A': [109], '29-year-old,': [110], 'Caucasian,': [111], 'male': [112], 'patient': [113, 134, 140], 'diagnosed': [114], 'mucopolysaccharidosis': [116, 167], 'was': [118, 131, 135, 177], 'treated': [119], 'over': [125], '15': [126], 'years.': [127], 'initiated': [132], 'when': [133], '13': [136], 'years': [137], 'old.': [138], 'The': [139], 'evolved': [141], 'multiplex': [142], 'dysostosis,': [143], 'carpal': [144], 'tunnel': [145], 'syndrome,': [146], 'thickened': [147], 'mitral': [148], 'valve,': [149], 'hearing': [151], 'visual': [153], 'loss.': [154], 'Conclusions': [155], 'did': [160], 'not': [161], 'prevent': [162], 'main': [164], 'signs': [165], 'it': [169], 'slowed': [170], 'their': [171], 'progression.': [172], 'Additionally,': [173], 'associated': [178], 'longer': [181], 'survival': [182], 'compared': [183], 'untreated': [186], 'affected': [187], 'sibling.': [188], 'Taken': [189], 'together,': [190], 'results': [192], 'indicate': [193], 'positively': [198], 'modified': [199], 'course': [201]}, 'cited_by_api_url': 'https://api.openalex.org/works?filter=cites:W4210515033', 'counts_by_year': [{'year': 2023, 'cited_by_count': 3}], 'updated_date': '2024-12-24T05:12:38.973267', 'created_date': '2022-02-08'}