Publication Information

{'id': 'https://openalex.org/W3000489942', 'doi': 'https://doi.org/10.12688/f1000research.21589.1', 'title': 'Detection of compound heterozygous variants in LPIN1 does not necessarily imply pathogenicity in a patient with rhabdomyolysis', 'display_name': 'Detection of compound heterozygous variants in LPIN1 does not necessarily imply pathogenicity in a patient with rhabdomyolysis', 'publication_year': 2020, 'publication_date': '2020-01-13', 'ids': {'openalex': 'https://openalex.org/W3000489942', 'doi': 'https://doi.org/10.12688/f1000research.21589.1', 'mag': '3000489942', 'pmid': 'https://pubmed.ncbi.nlm.nih.gov/32913636', 'pmcid': 'https://www.ncbi.nlm.nih.gov/pmc/articles/7429921'}, 'language': 'en', 'primary_location': {'is_oa': True, 'landing_page_url': 'https://doi.org/10.12688/f1000research.21589.1', 'pdf_url': 'https://f1000research.com/articles/9-15/v1/pdf', 'source': {'id': 'https://openalex.org/S4210239046', 'display_name': 'F1000Research', 'issn_l': '2046-1402', 'issn': ['2046-1402'], 'is_oa': True, 'is_in_doaj': True, 'is_core': True, 'host_organization': 'https://openalex.org/P4310320357', 'host_organization_name': 'Faculty of 1000', 'host_organization_lineage': ['https://openalex.org/P4310320357'], 'host_organization_lineage_names': ['Faculty of 1000'], 'type': 'journal'}, 'license': 'cc-by', 'license_id': 'https://openalex.org/licenses/cc-by', 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, 'type': 'preprint', 'type_crossref': 'journal-article', 'indexed_in': ['crossref', 'doaj', 'pubmed'], 'open_access': {'is_oa': True, 'oa_status': 'gold', 'oa_url': 'https://f1000research.com/articles/9-15/v1/pdf', 'any_repository_has_fulltext': True}, 'authorships': [{'author_position': 'first', 'author': {'id': 'https://openalex.org/A5060806470', 'display_name': 'Josef Finsterer', 'orcid': 'https://orcid.org/0000-0003-2839-7305'}, 'institutions': [{'id': 'https://openalex.org/I4210111069', 'display_name': 'Krankenanstalt Rudolfstiftung der Stadt Wien', 'ror': 'https://ror.org/019myg640', 'country_code': 'AT', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210111069', 'https://openalex.org/I4210117134']}], 'countries': ['AT'], 'is_corresponding': False, 'raw_author_name': 'Josef Finsterer', 'raw_affiliation_strings': ['Neurological Department, Krankenanstalt Rudolfstiftung, kar, Vienna, 1180'], 'affiliations': [{'raw_affiliation_string': 'Neurological Department, Krankenanstalt Rudolfstiftung, kar, Vienna, 1180', 'institution_ids': ['https://openalex.org/I4210111069']}]}, {'author_position': 'last', 'author': {'id': 'https://openalex.org/A5109566479', 'display_name': 'Rahim Aliyev', 'orcid': None}, 'institutions': [], 'countries': ['AZ'], 'is_corresponding': False, 'raw_author_name': 'Rahim Aliyev', 'raw_affiliation_strings': ['Department of Neurology and Clinical Neurophysiology, Azerbaijan State Advanced Training Institute for Doctors named after A. Aliyev, Baku'], 'affiliations': [{'raw_affiliation_string': 'Department of Neurology and Clinical Neurophysiology, Azerbaijan State Advanced Training Institute for Doctors named after A. Aliyev, Baku', 'institution_ids': []}]}], 'institution_assertions': [], 'countries_distinct_count': 2, 'institutions_distinct_count': 1, 'corresponding_author_ids': [], 'corresponding_institution_ids': [], 'apc_list': {'value': 1350, 'currency': 'USD', 'value_usd': 1350, 'provenance': 'doaj'}, 'apc_paid': {'value': 1350, 'currency': 'USD', 'value_usd': 1350, 'provenance': 'doaj'}, 'fwci': None, 'has_fulltext': True, 'fulltext_origin': 'pdf', 'cited_by_count': 0, 'citation_normalized_percentile': {'value': 0.0, 'is_in_top_1_percent': False, 'is_in_top_10_percent': False}, 'cited_by_percentile_year': {'min': 0, 'max': 60}, 'biblio': {'volume': '9', 'issue': None, 'first_page': '15', 'last_page': '15'}, 'is_retracted': False, 'is_paratext': False, 'primary_topic': {'id': 'https://openalex.org/T12117', 'display_name': 'Muscle and Compartmental Disorders', 'score': 0.9997, 'subfield': {'id': 'https://openalex.org/subfields/2746', 'display_name': 'Surgery'}, '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/T12117', 'display_name': 'Muscle and Compartmental Disorders', 'score': 0.9997, 'subfield': {'id': 'https://openalex.org/subfields/2746', 'display_name': 'Surgery'}, '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/T12700', 'display_name': 'Doping in Sports', 'score': 0.9612, 'subfield': {'id': 'https://openalex.org/subfields/3312', 'display_name': 'Sociology and Political Science'}, 'field': {'id': 'https://openalex.org/fields/33', 'display_name': 'Social Sciences'}, 'domain': {'id': 'https://openalex.org/domains/2', 'display_name': 'Social Sciences'}}, {'id': 'https://openalex.org/T11922', 'display_name': 'Cardiovascular Effects of Exercise', 'score': 0.959, 'subfield': {'id': 'https://openalex.org/subfields/2705', 'display_name': 'Cardiology and Cardiovascular 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/creatine-kinase', 'display_name': 'Creatine kinase', 'score': 0.44935182}], 'concepts': [{'id': 'https://openalex.org/C2779379848', 'wikidata': 'https://www.wikidata.org/wiki/Q917069', 'display_name': 'Rhabdomyolysis', 'level': 2, 'score': 0.97189057}, {'id': 'https://openalex.org/C64502627', 'wikidata': 'https://www.wikidata.org/wiki/Q170065', 'display_name': 'Pathogenicity', 'level': 2, 'score': 0.65889627}, {'id': 'https://openalex.org/C86803240', 'wikidata': 'https://www.wikidata.org/wiki/Q420', 'display_name': 'Biology', 'level': 0, 'score': 0.4909125}, {'id': 'https://openalex.org/C36880943', 'wikidata': 'https://www.wikidata.org/wiki/Q409458', 'display_name': 'Creatine kinase', 'level': 2, 'score': 0.44935182}, {'id': 'https://openalex.org/C2780035454', 'wikidata': 'https://www.wikidata.org/wiki/Q8386', 'display_name': 'Drug', 'level': 2, 'score': 0.4217502}, {'id': 'https://openalex.org/C71924100', 'wikidata': 'https://www.wikidata.org/wiki/Q11190', 'display_name': 'Medicine', 'level': 0, 'score': 0.41232863}, {'id': 'https://openalex.org/C54355233', 'wikidata': 'https://www.wikidata.org/wiki/Q7162', 'display_name': 'Genetics', 'level': 1, 'score': 0.404405}, {'id': 'https://openalex.org/C42407357', 'wikidata': 'https://www.wikidata.org/wiki/Q521', 'display_name': 'Physiology', 'level': 1, 'score': 0.3539983}, {'id': 'https://openalex.org/C126322002', 'wikidata': 'https://www.wikidata.org/wiki/Q11180', 'display_name': 'Internal medicine', 'level': 1, 'score': 0.26838565}, {'id': 'https://openalex.org/C98274493', 'wikidata': 'https://www.wikidata.org/wiki/Q128406', 'display_name': 'Pharmacology', 'level': 1, 'score': 0.25757283}, {'id': 'https://openalex.org/C89423630', 'wikidata': 'https://www.wikidata.org/wiki/Q7193', 'display_name': 'Microbiology', 'level': 1, 'score': 0.077617735}], 'mesh': [{'descriptor_ui': 'D010711', 'descriptor_name': 'Phosphatidate Phosphatase', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D012206', 'descriptor_name': 'Rhabdomyolysis', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D006801', 'descriptor_name': 'Humans', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D007223', 'descriptor_name': 'Infant', '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': 'D010711', 'descriptor_name': 'Phosphatidate Phosphatase', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D012206', 'descriptor_name': 'Rhabdomyolysis', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D014774', 'descriptor_name': 'Virulence', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}], 'locations_count': 4, 'locations': [{'is_oa': True, 'landing_page_url': 'https://doi.org/10.12688/f1000research.21589.1', 'pdf_url': 'https://f1000research.com/articles/9-15/v1/pdf', 'source': {'id': 'https://openalex.org/S4210239046', 'display_name': 'F1000Research', 'issn_l': '2046-1402', 'issn': ['2046-1402'], 'is_oa': True, 'is_in_doaj': True, 'is_core': True, 'host_organization': 'https://openalex.org/P4310320357', 'host_organization_name': 'Faculty of 1000', 'host_organization_lineage': ['https://openalex.org/P4310320357'], 'host_organization_lineage_names': ['Faculty of 1000'], '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/82d001ec3e794a7284c75b2ad23373e4', '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': 'https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7429921', '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/32913636', '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/10.12688/f1000research.21589.1', 'pdf_url': 'https://f1000research.com/articles/9-15/v1/pdf', 'source': {'id': 'https://openalex.org/S4210239046', 'display_name': 'F1000Research', 'issn_l': '2046-1402', 'issn': ['2046-1402'], 'is_oa': True, 'is_in_doaj': True, 'is_core': True, 'host_organization': 'https://openalex.org/P4310320357', 'host_organization_name': 'Faculty of 1000', 'host_organization_lineage': ['https://openalex.org/P4310320357'], 'host_organization_lineage_names': ['Faculty of 1000'], 'type': 'journal'}, 'license': 'cc-by', 'license_id': 'https://openalex.org/licenses/cc-by', 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, 'sustainable_development_goals': [{'display_name': 'Good health and well-being', 'score': 0.82, 'id': 'https://metadata.un.org/sdg/3'}], 'grants': [], 'datasets': [], 'versions': [], 'referenced_works_count': 10, 'referenced_works': ['https://openalex.org/W1578068943', 'https://openalex.org/W1967260580', 'https://openalex.org/W2052660293', 'https://openalex.org/W2075138393', 'https://openalex.org/W2075841038', 'https://openalex.org/W2088481987', 'https://openalex.org/W2143644834', 'https://openalex.org/W2590136678', 'https://openalex.org/W2971712851', 'https://openalex.org/W2993915068'], 'related_works': ['https://openalex.org/W4386831550', 'https://openalex.org/W3208033427', 'https://openalex.org/W2568578982', 'https://openalex.org/W2401226299', 'https://openalex.org/W2256891312', 'https://openalex.org/W2081537871', 'https://openalex.org/W2080373648', 'https://openalex.org/W2056681610', 'https://openalex.org/W2014349196', 'https://openalex.org/W1941271696'], 'abstract_inverted_index': {'<ns4:p>In': [0], 'a': [1, 8, 18, 56, 67], 'recent': [2], 'article': [3], 'by': [4, 34], 'Yim': [5], '<ns4:italic>et': [6], 'al.</ns4:italic>,': [7], '15-month-old': [9], 'male': [10], 'is': [11], 'described': [12], 'who': [13], 'experienced': [14], 'severe': [15], 'rhabdomyolysis': [16, 62], 'with': [17], 'creatine-kinase': [19], 'value': [20], '(CKV)': [21], 'of': [22, 30, 58, 61, 94], '127494': [23], 'U/l': [24], 'one': [25], 'day': [26], 'after': [27], 'intramuscular': [28], 'injection': [29], 'an': [31], 'unidentified': [32], 'drug': [33, 45], 'the': [35, 95], 'general': [36], 'practitioner.': [37], 'Rhabdomyolysis': [38], 'was': [39], 'not': [40], 'attributed': [41], 'to': [42, 47, 89], 'this': [43], 'injected': [44], 'but': [46], 'compound': [48], 'heterozygous': [49], 'variants': [50], 'in': [51], 'LPIN1.': [52], 'The': [53], 'study': [54], 'has': [55], 'number': [57], 'shortcomings.': [59], 'Triggers': [60], 'should': [63, 72, 78, 85], 'be': [64, 73, 79, 86], 'unequivocally': [65], 'identified,': [66], 'more': [68], 'extensive': [69], 'family': [70], 'history': [71], 'taken,': [74], 'and': [75, 82], 'previous': [76], 'CKVs': [77], 'provided.': [80], 'Functional': [81], 'biochemical': [83], 'tests': [84], 'carried': [87], 'out': [88], 'confirm': [90], 'or': [91], 'exclude': [92], 'pathogenicity': [93], 'LPIN1': [96], 'variants.</ns4:p>': [97]}, 'cited_by_api_url': 'https://api.openalex.org/works?filter=cites:W3000489942', 'counts_by_year': [], 'updated_date': '2024-12-26T04:44:05.004594', 'created_date': '2020-01-23'}