Get quick answers to your questions about the article from our AI researcher chatbot
{'id': 'https://openalex.org/W3014880330', 'doi': None, 'title': '[A young girl with recurrent calculosis and hypercalcemia].', 'display_name': '[A young girl with recurrent calculosis and hypercalcemia].', 'publication_year': 2018, 'publication_date': '2018-05-01', 'ids': {'openalex': 'https://openalex.org/W3014880330', 'mag': '3014880330', 'pmid': 'https://pubmed.ncbi.nlm.nih.gov/29786188'}, 'language': 'en', 'primary_location': {'is_oa': False, 'landing_page_url': 'https://pubmed.ncbi.nlm.nih.gov/29786188', '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}, 'type': 'article', 'type_crossref': 'journal-article', 'indexed_in': ['pubmed'], 'open_access': {'is_oa': False, 'oa_status': 'closed', 'oa_url': None, 'any_repository_has_fulltext': False}, 'authorships': [{'author_position': 'first', 'author': {'id': 'https://openalex.org/A5024100005', 'display_name': 'Federica Di Maio', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I103320735', 'display_name': 'Università Cattolica del Sacro Cuore', 'ror': 'https://ror.org/03h7r5v07', 'country_code': 'IT', 'type': 'education', 'lineage': ['https://openalex.org/I103320735']}], 'countries': ['IT'], 'is_corresponding': False, 'raw_author_name': 'F. Di Maio', 'raw_affiliation_strings': ['UOC di Nefrologia Fondazione Policlinico Universitario A. Gemelli, Università Cattolica del Sacro Cuore, Roma, Italy.'], 'affiliations': [{'raw_affiliation_string': 'UOC di Nefrologia Fondazione Policlinico Universitario A. Gemelli, Università Cattolica del Sacro Cuore, Roma, Italy.', 'institution_ids': ['https://openalex.org/I103320735']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5051549058', 'display_name': 'Matteo Vittori', 'orcid': 'https://orcid.org/0000-0002-5597-2742'}, 'institutions': [{'id': 'https://openalex.org/I103320735', 'display_name': 'Università Cattolica del Sacro Cuore', 'ror': 'https://ror.org/03h7r5v07', 'country_code': 'IT', 'type': 'education', 'lineage': ['https://openalex.org/I103320735']}], 'countries': ['IT'], 'is_corresponding': False, 'raw_author_name': 'M. Vittori', 'raw_affiliation_strings': ['UOC di Urologia, Fondazione Policlinico Universitario A. Gemelli, Università Cattolica del Sacro Cuore, Roma, Italy.'], 'affiliations': [{'raw_affiliation_string': 'UOC di Urologia, Fondazione Policlinico Universitario A. Gemelli, Università Cattolica del Sacro Cuore, Roma, Italy.', 'institution_ids': ['https://openalex.org/I103320735']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5061481176', 'display_name': 'Pier Francesco Bassi', 'orcid': 'https://orcid.org/0000-0001-8648-3557'}, 'institutions': [{'id': 'https://openalex.org/I2802557943', 'display_name': 'Agostino Gemelli University Polyclinic', 'ror': 'https://ror.org/00rg70c39', 'country_code': 'IT', 'type': 'healthcare', 'lineage': ['https://openalex.org/I2802557943']}], 'countries': ['IT'], 'is_corresponding': False, 'raw_author_name': 'P. Bassi', 'raw_affiliation_strings': ['IRCCS Fondazione Policlinico Universitario A. Gemelli'], 'affiliations': [{'raw_affiliation_string': 'IRCCS Fondazione Policlinico Universitario A. Gemelli', 'institution_ids': ['https://openalex.org/I2802557943']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5039174028', 'display_name': 'Pierluigi Fulignati', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I103320735', 'display_name': 'Università Cattolica del Sacro Cuore', 'ror': 'https://ror.org/03h7r5v07', 'country_code': 'IT', 'type': 'education', 'lineage': ['https://openalex.org/I103320735']}], 'countries': ['IT'], 'is_corresponding': False, 'raw_author_name': 'P. Fulignati', 'raw_affiliation_strings': ['UOC di Nefrologia Fondazione Policlinico Universitario A. Gemelli, Università Cattolica del Sacro Cuore, Roma, Italy.'], 'affiliations': [{'raw_affiliation_string': 'UOC di Nefrologia Fondazione Policlinico Universitario A. Gemelli, Università Cattolica del Sacro Cuore, Roma, Italy.', 'institution_ids': ['https://openalex.org/I103320735']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5001759287', 'display_name': "Silvia D'Alonzo", 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I103320735', 'display_name': 'Università Cattolica del Sacro Cuore', 'ror': 'https://ror.org/03h7r5v07', 'country_code': 'IT', 'type': 'education', 'lineage': ['https://openalex.org/I103320735']}], 'countries': ['IT'], 'is_corresponding': False, 'raw_author_name': "S. D'Alonzo", 'raw_affiliation_strings': ['UOC di Nefrologia Fondazione Policlinico Universitario A. Gemelli, Università Cattolica del Sacro Cuore, Roma, Italy.'], 'affiliations': [{'raw_affiliation_string': 'UOC di Nefrologia Fondazione Policlinico Universitario A. Gemelli, Università Cattolica del Sacro Cuore, Roma, Italy.', 'institution_ids': ['https://openalex.org/I103320735']}]}, {'author_position': 'last', 'author': {'id': 'https://openalex.org/A5064268494', 'display_name': 'Pietro Manuel Ferraro', 'orcid': 'https://orcid.org/0000-0002-1379-022X'}, 'institutions': [{'id': 'https://openalex.org/I2802557943', 'display_name': 'Agostino Gemelli University Polyclinic', 'ror': 'https://ror.org/00rg70c39', 'country_code': 'IT', 'type': 'healthcare', 'lineage': ['https://openalex.org/I2802557943']}], 'countries': ['IT'], 'is_corresponding': False, 'raw_author_name': 'P. M. Ferraro', 'raw_affiliation_strings': ['IRCCS Fondazione Policlinico Universitario A. Gemelli'], 'affiliations': [{'raw_affiliation_string': 'IRCCS Fondazione Policlinico Universitario A. Gemelli', 'institution_ids': ['https://openalex.org/I2802557943']}]}], 'countries_distinct_count': 1, 'institutions_distinct_count': 2, 'corresponding_author_ids': [], 'corresponding_institution_ids': [], 'apc_list': None, 'apc_paid': None, 'fwci': 0.216, 'has_fulltext': False, 'cited_by_count': 1, 'citation_normalized_percentile': {'value': 0.518298, 'is_in_top_1_percent': False, 'is_in_top_10_percent': False}, 'cited_by_percentile_year': {'min': 63, 'max': 71}, 'biblio': {'volume': '35', 'issue': '3', 'first_page': None, 'last_page': None}, 'is_retracted': False, 'is_paratext': False, 'primary_topic': {'id': 'https://openalex.org/T11839', 'display_name': 'Management of Primary Aldosteronism', 'score': 0.9814, 'subfield': {'id': 'https://openalex.org/subfields/2712', 'display_name': 'Endocrinology, Diabetes and Metabolism'}, '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/T11839', 'display_name': 'Management of Primary Aldosteronism', 'score': 0.9814, 'subfield': {'id': 'https://openalex.org/subfields/2712', 'display_name': 'Endocrinology, Diabetes and Metabolism'}, '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/T10277', 'display_name': 'Vitamin D and Health Outcomes', 'score': 0.9807, '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'}}, {'id': 'https://openalex.org/T11956', 'display_name': 'Molecular Biology of Steroidogenesis and Disorders', 'score': 0.9734, 'subfield': {'id': 'https://openalex.org/subfields/1312', 'display_name': 'Molecular Biology'}, '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/cyp24a1', 'display_name': 'CYP24A1', 'score': 0.9370722}, {'id': 'https://openalex.org/keywords/nephrocalcinosis', 'display_name': 'Nephrocalcinosis', 'score': 0.9313935}, {'id': 'https://openalex.org/keywords/steroid-21-hydroxylase-deficiency', 'display_name': 'Steroid 21-Hydroxylase Deficiency', 'score': 0.550177}], 'concepts': [{'id': 'https://openalex.org/C76743606', 'wikidata': 'https://www.wikidata.org/wiki/Q21110757', 'display_name': 'CYP24A1', 'level': 4, 'score': 0.9370722}, {'id': 'https://openalex.org/C2781145721', 'wikidata': 'https://www.wikidata.org/wiki/Q1527711', 'display_name': 'Nephrocalcinosis', 'level': 3, 'score': 0.9313935}, {'id': 'https://openalex.org/C2777724520', 'wikidata': 'https://www.wikidata.org/wiki/Q2526358', 'display_name': 'Hypercalciuria', 'level': 3, 'score': 0.92678857}, {'id': 'https://openalex.org/C134018914', 'wikidata': 'https://www.wikidata.org/wiki/Q162606', 'display_name': 'Endocrinology', 'level': 1, 'score': 0.66241395}, {'id': 'https://openalex.org/C126322002', 'wikidata': 'https://www.wikidata.org/wiki/Q11180', 'display_name': 'Internal medicine', 'level': 1, 'score': 0.64249027}, {'id': 'https://openalex.org/C2781208988', 'wikidata': 'https://www.wikidata.org/wiki/Q202476', 'display_name': 'Parathyroid hormone', 'level': 3, 'score': 0.59911984}, {'id': 'https://openalex.org/C71924100', 'wikidata': 'https://www.wikidata.org/wiki/Q11190', 'display_name': 'Medicine', 'level': 0, 'score': 0.5829212}, {'id': 'https://openalex.org/C2994225774', 'wikidata': 'https://www.wikidata.org/wiki/Q42918', 'display_name': 'Gene mutation', 'level': 4, 'score': 0.47631392}, {'id': 'https://openalex.org/C124490489', 'wikidata': 'https://www.wikidata.org/wiki/Q7936963', 'display_name': 'Vitamin D and neurology', 'level': 2, 'score': 0.4512826}, {'id': 'https://openalex.org/C181199279', 'wikidata': 'https://www.wikidata.org/wiki/Q8047', 'display_name': 'Enzyme', 'level': 2, 'score': 0.41148728}, {'id': 'https://openalex.org/C501734568', 'wikidata': 'https://www.wikidata.org/wiki/Q42918', 'display_name': 'Mutation', 'level': 3, 'score': 0.3678642}, {'id': 'https://openalex.org/C104317684', 'wikidata': 'https://www.wikidata.org/wiki/Q7187', 'display_name': 'Gene', 'level': 2, 'score': 0.26126924}, {'id': 'https://openalex.org/C519063684', 'wikidata': 'https://www.wikidata.org/wiki/Q706', 'display_name': 'Calcium', 'level': 2, 'score': 0.25505635}, {'id': 'https://openalex.org/C2780091579', 'wikidata': 'https://www.wikidata.org/wiki/Q9377', 'display_name': 'Kidney', 'level': 2, 'score': 0.23288006}, {'id': 'https://openalex.org/C86803240', 'wikidata': 'https://www.wikidata.org/wiki/Q420', 'display_name': 'Biology', 'level': 0, 'score': 0.19659734}, {'id': 'https://openalex.org/C54355233', 'wikidata': 'https://www.wikidata.org/wiki/Q7162', 'display_name': 'Genetics', 'level': 1, 'score': 0.13816342}, {'id': 'https://openalex.org/C55493867', 'wikidata': 'https://www.wikidata.org/wiki/Q7094', 'display_name': 'Biochemistry', 'level': 1, 'score': 0.09877691}, {'id': 'https://openalex.org/C179639408', 'wikidata': 'https://www.wikidata.org/wiki/Q417057', 'display_name': 'Calcitriol receptor', 'level': 3, 'score': 0.076184005}], 'mesh': [{'descriptor_ui': 'D006934', 'descriptor_name': 'Hypercalcemia', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D007669', 'descriptor_name': 'Kidney Calculi', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D065668', 'descriptor_name': 'Vitamin D3 24-Hydroxylase', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D000328', 'descriptor_name': 'Adult', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D002118', 'descriptor_name': 'Calcium', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D002118', 'descriptor_name': 'Calcium', 'qualifier_ui': 'Q000097', 'qualifier_name': 'blood', 'is_major_topic': False}, {'descriptor_ui': 'D002118', 'descriptor_name': 'Calcium', 'qualifier_ui': 'Q000652', 'qualifier_name': 'urine', 'is_major_topic': False}, {'descriptor_ui': 'D002762', 'descriptor_name': 'Cholecalciferol', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D002762', 'descriptor_name': 'Cholecalciferol', 'qualifier_ui': 'Q000097', 'qualifier_name': 'blood', 'is_major_topic': False}, {'descriptor_ui': 'D002951', 'descriptor_name': 'Citrates', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D002951', 'descriptor_name': 'Citrates', 'qualifier_ui': 'Q000652', 'qualifier_name': 'urine', 'is_major_topic': False}, {'descriptor_ui': 'D005260', 'descriptor_name': 'Female', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D005838', 'descriptor_name': 'Genotype', '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': 'D006934', 'descriptor_name': 'Hypercalcemia', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D006934', 'descriptor_name': 'Hypercalcemia', 'qualifier_ui': 'Q000150', 'qualifier_name': 'complications', 'is_major_topic': False}, {'descriptor_ui': 'D053565', 'descriptor_name': 'Hypercalciuria', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D053565', 'descriptor_name': 'Hypercalciuria', 'qualifier_ui': 'Q000209', 'qualifier_name': 'etiology', 'is_major_topic': False}, {'descriptor_ui': 'D053565', 'descriptor_name': 'Hypercalciuria', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': False}, {'descriptor_ui': 'D007669', 'descriptor_name': 'Kidney Calculi', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D007669', 'descriptor_name': 'Kidney Calculi', 'qualifier_ui': 'Q000097', 'qualifier_name': 'blood', 'is_major_topic': False}, {'descriptor_ui': 'D007669', 'descriptor_name': 'Kidney Calculi', 'qualifier_ui': 'Q000209', 'qualifier_name': 'etiology', 'is_major_topic': False}, {'descriptor_ui': 'D007669', 'descriptor_name': 'Kidney Calculi', 'qualifier_ui': 'Q000652', 'qualifier_name': 'urine', 'is_major_topic': False}, {'descriptor_ui': 'D020125', 'descriptor_name': 'Mutation, Missense', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D010281', 'descriptor_name': 'Parathyroid Hormone', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D010281', 'descriptor_name': 'Parathyroid Hormone', 'qualifier_ui': 'Q000097', 'qualifier_name': 'blood', 'is_major_topic': False}, {'descriptor_ui': 'D010758', 'descriptor_name': 'Phosphorus', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D010758', 'descriptor_name': 'Phosphorus', 'qualifier_ui': 'Q000097', 'qualifier_name': 'blood', 'is_major_topic': False}, {'descriptor_ui': 'D012008', 'descriptor_name': 'Recurrence', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D017384', 'descriptor_name': 'Sequence Deletion', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D014807', 'descriptor_name': 'Vitamin D', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D014807', 'descriptor_name': 'Vitamin D', 'qualifier_ui': 'Q000378', 'qualifier_name': 'metabolism', 'is_major_topic': False}, {'descriptor_ui': 'D065668', 'descriptor_name': 'Vitamin D3 24-Hydroxylase', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D065668', 'descriptor_name': 'Vitamin D3 24-Hydroxylase', 'qualifier_ui': 'Q000172', 'qualifier_name': 'deficiency', 'is_major_topic': False}], 'locations_count': 1, 'locations': [{'is_oa': False, 'landing_page_url': 'https://pubmed.ncbi.nlm.nih.gov/29786188', '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': None, 'sustainable_development_goals': [{'score': 0.64, 'id': 'https://metadata.un.org/sdg/3', 'display_name': 'Good health and well-being'}], 'grants': [], 'datasets': [], 'versions': [], 'referenced_works_count': 0, 'referenced_works': [], 'related_works': ['https://openalex.org/W3211880280', 'https://openalex.org/W3199390182', 'https://openalex.org/W3014880330', 'https://openalex.org/W2794379317', 'https://openalex.org/W2778941308', 'https://openalex.org/W2163750210', 'https://openalex.org/W2116694702', 'https://openalex.org/W2089685225', 'https://openalex.org/W2075145089', 'https://openalex.org/W2040617300'], 'abstract_inverted_index': {'Mutations': [0], 'of': [1, 12, 19, 22, 42, 61, 70], 'the': [2, 10, 13, 20, 62, 71], 'CYP24A1': [3, 72], 'gene': [4], 'are': [5, 57], 'associated': [6], 'with': [7, 46], 'alterations': [8], 'in': [9, 17], 'activity': [11], 'enzyme': [14, 63], '25-OH-D-24-hydroxylase,': [15, 64], 'resulting': [16], 'dysfunction': [18], 'metabolism': [21], 'vitamin': [23], 'D.': [24], 'This': [25], 'enzymatic': [26], 'deficiency': [27, 60], 'may': [28], 'cause': [29], 'hypercalcemia,': [30], 'low': [31], 'parathyroid': [32], 'hormone': [33], 'levels,': [34], 'hypercalciuria,': [35], 'nephrolithiasis': [36], 'and': [37, 51], 'nephrocalcinosis.': [38], 'The': [39], 'clinical': [40], 'case': [41], 'a': [43, 67], 'young': [44], 'woman': [45], 'recurrent': [47], 'renal': [48], 'lithiasis,': [49], 'hypercalcemia': [50], 'hypercalciuria': [52], 'is': [53], 'described.': [54], 'These': [55], 'features': [56], 'linked': [58], 'to': [59, 66], 'therefore': [65], 'biallelic': [68], 'mutation': [69], 'gene.': [73]}, 'cited_by_api_url': 'https://api.openalex.org/works?filter=cites:W3014880330', 'counts_by_year': [{'year': 2021, 'cited_by_count': 1}], 'updated_date': '2024-08-14T15:19:22.051017', 'created_date': '2020-04-10'}