Publication Information

{'id': 'https://openalex.org/W1604700754', 'doi': 'https://doi.org/10.1111/ped.12550', 'title': 'Diagnosis and treatment of hereditary tyrosinemia in <scp>J</scp>apan', 'display_name': 'Diagnosis and treatment of hereditary tyrosinemia in <scp>J</scp>apan', 'publication_year': 2014, 'publication_date': '2014-12-02', 'ids': {'openalex': 'https://openalex.org/W1604700754', 'doi': 'https://doi.org/10.1111/ped.12550', 'mag': '1604700754', 'pmid': 'https://pubmed.ncbi.nlm.nih.gov/25443793'}, 'language': 'en', 'primary_location': {'is_oa': False, 'landing_page_url': 'https://doi.org/10.1111/ped.12550', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S113298455', 'display_name': 'Pediatrics International', 'issn_l': '1328-8067', 'issn': ['1328-8067', '1442-200X'], 'is_oa': False, 'is_in_doaj': False, 'is_core': True, 'host_organization': 'https://openalex.org/P4310320595', 'host_organization_name': 'Wiley', 'host_organization_lineage': ['https://openalex.org/P4310320595'], 'host_organization_lineage_names': ['Wiley'], 'type': 'journal'}, 'license': None, 'license_id': None, 'version': None, 'is_accepted': False, 'is_published': False}, 'type': 'review', 'type_crossref': 'journal-article', 'indexed_in': ['crossref', '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/A5015852036', 'display_name': 'Kimitoshi Nakamura', 'orcid': 'https://orcid.org/0000-0001-6659-4145'}, 'institutions': [{'id': 'https://openalex.org/I4210122547', 'display_name': 'Kumamoto University Hospital', 'ror': 'https://ror.org/02vgs9327', 'country_code': 'JP', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210122547']}], 'countries': ['JP'], 'is_corresponding': False, 'raw_author_name': 'Kimitoshi Nakamura', 'raw_affiliation_strings': ['Department of Pediatrics, Kumamoto University Hospital, Kumamoto, Japan'], 'affiliations': [{'raw_affiliation_string': 'Department of Pediatrics, Kumamoto University Hospital, Kumamoto, Japan', 'institution_ids': ['https://openalex.org/I4210122547']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5061705056', 'display_name': 'Shirou Matsumoto', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I4210122547', 'display_name': 'Kumamoto University Hospital', 'ror': 'https://ror.org/02vgs9327', 'country_code': 'JP', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210122547']}], 'countries': ['JP'], 'is_corresponding': False, 'raw_author_name': 'Shirou Matsumoto', 'raw_affiliation_strings': ['Department of Pediatrics, Kumamoto University Hospital, Kumamoto, Japan'], 'affiliations': [{'raw_affiliation_string': 'Department of Pediatrics, Kumamoto University Hospital, Kumamoto, Japan', 'institution_ids': ['https://openalex.org/I4210122547']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5027588147', 'display_name': 'Hiroshi Mitsubuchi', 'orcid': 'https://orcid.org/0000-0002-1771-6764'}, 'institutions': [{'id': 'https://openalex.org/I4210122547', 'display_name': 'Kumamoto University Hospital', 'ror': 'https://ror.org/02vgs9327', 'country_code': 'JP', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210122547']}], 'countries': ['JP'], 'is_corresponding': False, 'raw_author_name': 'Hiroshi Mitsubuchi', 'raw_affiliation_strings': ['Department of Neonatology Kumamoto University Hospital Kumamoto Japan'], 'affiliations': [{'raw_affiliation_string': 'Department of Neonatology Kumamoto University Hospital Kumamoto Japan', 'institution_ids': ['https://openalex.org/I4210122547']}]}, {'author_position': 'last', 'author': {'id': 'https://openalex.org/A5113946920', 'display_name': 'Fumio Endo', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I4210122547', 'display_name': 'Kumamoto University Hospital', 'ror': 'https://ror.org/02vgs9327', 'country_code': 'JP', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210122547']}], 'countries': ['JP'], 'is_corresponding': False, 'raw_author_name': 'Fumio Endo', 'raw_affiliation_strings': ['Department of Pediatrics, Kumamoto University Hospital, Kumamoto, Japan'], 'affiliations': [{'raw_affiliation_string': 'Department of Pediatrics, Kumamoto University Hospital, Kumamoto, Japan', 'institution_ids': ['https://openalex.org/I4210122547']}]}], 'institution_assertions': [], 'countries_distinct_count': 1, 'institutions_distinct_count': 1, 'corresponding_author_ids': [], 'corresponding_institution_ids': [], 'apc_list': {'value': 2700, 'currency': 'USD', 'value_usd': 2700, 'provenance': 'doaj'}, 'apc_paid': None, 'fwci': 0.198, 'has_fulltext': True, 'fulltext_origin': 'ngrams', 'cited_by_count': 16, 'citation_normalized_percentile': {'value': 0.582222, 'is_in_top_1_percent': False, 'is_in_top_10_percent': False}, 'cited_by_percentile_year': {'min': 89, 'max': 90}, 'biblio': {'volume': '57', 'issue': '1', 'first_page': '37', 'last_page': '40'}, 'is_retracted': False, 'is_paratext': False, 'primary_topic': {'id': 'https://openalex.org/T11027', 'display_name': 'Metabolism and Genetic Disorders', 'score': 1.0, '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'}}, 'topics': [{'id': 'https://openalex.org/T11027', 'display_name': 'Metabolism and Genetic Disorders', 'score': 1.0, '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'}}, {'id': 'https://openalex.org/T12770', 'display_name': 'Amino Acid Enzymes and Metabolism', 'score': 0.999, 'subfield': {'id': 'https://openalex.org/subfields/1303', 'display_name': '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/T12267', 'display_name': 'Diet and metabolism studies', 'score': 0.9946, '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'}}], 'keywords': [{'id': 'https://openalex.org/keywords/tyrosinemia', 'display_name': 'Tyrosinemia', 'score': 0.9685638}, {'id': 'https://openalex.org/keywords/hypophosphatemic-rickets', 'display_name': 'Hypophosphatemic Rickets', 'score': 0.45703283}], 'concepts': [{'id': 'https://openalex.org/C2781097277', 'wikidata': 'https://www.wikidata.org/wiki/Q1122668', 'display_name': 'Tyrosinemia', 'level': 3, 'score': 0.9685638}, {'id': 'https://openalex.org/C71924100', 'wikidata': 'https://www.wikidata.org/wiki/Q11190', 'display_name': 'Medicine', 'level': 0, 'score': 0.95209485}, {'id': 'https://openalex.org/C2779134260', 'wikidata': 'https://www.wikidata.org/wiki/Q12136', 'display_name': 'Disease', 'level': 2, 'score': 0.48226053}, {'id': 'https://openalex.org/C126322002', 'wikidata': 'https://www.wikidata.org/wiki/Q11180', 'display_name': 'Internal medicine', 'level': 1, 'score': 0.46566984}, {'id': 'https://openalex.org/C2911197707', 'wikidata': 'https://www.wikidata.org/wiki/Q1779987', 'display_name': 'Hypophosphatemic Rickets', 'level': 4, 'score': 0.45703283}, {'id': 'https://openalex.org/C90924648', 'wikidata': 'https://www.wikidata.org/wiki/Q120569', 'display_name': 'Gastroenterology', 'level': 1, 'score': 0.41333538}, {'id': 'https://openalex.org/C134018914', 'wikidata': 'https://www.wikidata.org/wiki/Q162606', 'display_name': 'Endocrinology', 'level': 1, 'score': 0.35325128}, {'id': 'https://openalex.org/C2776165026', 'wikidata': 'https://www.wikidata.org/wiki/Q188017', 'display_name': 'Tyrosine', 'level': 2, 'score': 0.34311712}, {'id': 'https://openalex.org/C2776489590', 'wikidata': 'https://www.wikidata.org/wiki/Q183392', 'display_name': 'Rickets', 'level': 3, 'score': 0.20776954}, {'id': 'https://openalex.org/C55493867', 'wikidata': 'https://www.wikidata.org/wiki/Q7094', 'display_name': 'Biochemistry', 'level': 1, 'score': 0.11272627}, {'id': 'https://openalex.org/C124490489', 'wikidata': 'https://www.wikidata.org/wiki/Q7936963', 'display_name': 'Vitamin D and neurology', 'level': 2, 'score': 0.07106796}, {'id': 'https://openalex.org/C185592680', 'wikidata': 'https://www.wikidata.org/wiki/Q2329', 'display_name': 'Chemistry', 'level': 0, 'score': 0.0}], 'mesh': [{'descriptor_ui': 'D019468', 'descriptor_name': 'Disease Management', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': True}, {'descriptor_ui': 'D020176', 'descriptor_name': 'Tyrosinemias', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': True}, {'descriptor_ui': 'D006801', 'descriptor_name': 'Humans', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D015994', 'descriptor_name': 'Incidence', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D007564', 'descriptor_name': 'Japan', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D007564', 'descriptor_name': 'Japan', 'qualifier_ui': 'Q000453', 'qualifier_name': 'epidemiology', 'is_major_topic': False}, {'descriptor_ui': 'D020176', 'descriptor_name': 'Tyrosinemias', 'qualifier_ui': 'Q000175', 'qualifier_name': 'diagnosis', 'is_major_topic': False}, {'descriptor_ui': 'D020176', 'descriptor_name': 'Tyrosinemias', 'qualifier_ui': 'Q000628', 'qualifier_name': 'therapy', 'is_major_topic': False}, {'descriptor_ui': 'D020176', 'descriptor_name': 'Tyrosinemias', 'qualifier_ui': 'Q000453', 'qualifier_name': 'epidemiology', 'is_major_topic': False}], 'locations_count': 2, 'locations': [{'is_oa': False, 'landing_page_url': 'https://doi.org/10.1111/ped.12550', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S113298455', 'display_name': 'Pediatrics International', 'issn_l': '1328-8067', 'issn': ['1328-8067', '1442-200X'], 'is_oa': False, 'is_in_doaj': False, 'is_core': True, 'host_organization': 'https://openalex.org/P4310320595', 'host_organization_name': 'Wiley', 'host_organization_lineage': ['https://openalex.org/P4310320595'], 'host_organization_lineage_names': ['Wiley'], 'type': 'journal'}, 'license': None, 'license_id': None, 'version': None, 'is_accepted': False, 'is_published': False}, {'is_oa': False, 'landing_page_url': 'https://pubmed.ncbi.nlm.nih.gov/25443793', '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': [{'display_name': 'Good health and well-being', 'id': 'https://metadata.un.org/sdg/3', 'score': 0.83}], 'grants': [], 'datasets': [], 'versions': [], 'referenced_works_count': 13, 'referenced_works': ['https://openalex.org/W1965194922', 'https://openalex.org/W1970017176', 'https://openalex.org/W1971441100', 'https://openalex.org/W1973445051', 'https://openalex.org/W1980430393', 'https://openalex.org/W2007751075', 'https://openalex.org/W2045299448', 'https://openalex.org/W2054038545', 'https://openalex.org/W2128269631', 'https://openalex.org/W2133514168', 'https://openalex.org/W2139023170', 'https://openalex.org/W2145611140', 'https://openalex.org/W4243725038'], 'related_works': ['https://openalex.org/W4321208459', 'https://openalex.org/W4285191421', 'https://openalex.org/W4238966855', 'https://openalex.org/W4231110312', 'https://openalex.org/W3047949947', 'https://openalex.org/W2972677844', 'https://openalex.org/W2069483086', 'https://openalex.org/W2045480482', 'https://openalex.org/W1999478197', 'https://openalex.org/W145991348'], 'abstract_inverted_index': {'Hereditary': [0], 'tyrosinemia': [1, 44, 75], 'is': [2, 47, 70, 86, 121, 129], 'an': [3], 'autosomal': [4], 'recessive': [5], 'inherited': [6], 'disease': [7, 22], 'that': [8, 100], 'manifests': [9], 'as': [10], 'three': [11], 'types': [12, 125], '(types': [13], 'I-III).': [14], 'We': [15], 'conducted': [16], 'a': [17], 'nationwide': [18], 'survey': [19], 'of': [20, 43, 58, 92], 'this': [21], 'in': [23, 30, 115, 124], 'Japan,': [24], 'and': [25, 36, 38, 80, 95, 127], 'here': [26], 'review': [27], 'the': [28, 90], 'results': [29], 'relation': [31], 'to': [32, 49], 'prevalence,': [33], 'clinical': [34], 'characteristics,': [35], 'treatment': [37], 'diagnosis.': [39, 73], 'A': [40], 'definitive': [41], 'diagnosis': [42], 'type': [45, 76, 116], 'I': [46, 117], 'difficult': [48], 'obtain': [50], 'based': [51], 'only': [52], 'on': [53], 'blood': [54, 62], 'tyrosine': [55], 'level.': [56], 'Detection': [57], 'succinylacetone': [59], 'using': [60], 'dried': [61], 'spots': [63], 'or': [64], 'urinary': [65], 'organic': [66], 'acid': [67], 'analysis,': [68], 'however,': [69], 'useful': [71], 'for': [72], 'In': [74], 'I,': [77], 'dietary': [78], 'therapy': [79, 120], 'nitisinone': [81, 105, 119], '(Orfandin®)': [82], 'are': [83, 101], 'effective.': [84, 122], 'Prognosis': [85, 123], 'greatly': [87], 'affected': [88], 'by': [89], 'complications': [91], 'liver': [93, 108], 'cancer': [94], 'hypophosphatemic': [96], 'rickets;': [97], 'even': [98], 'patients': [99], 'treated': [102], 'early': [103], 'with': [104], 'may': [106], 'develop': [107], 'cancer.': [109], 'Long-term': [110], 'survival': [111], 'can': [112], 'be': [113], 'expected': [114], 'if': [118], 'II': [126], 'III': [128], 'relatively': [130], 'good.': [131]}, 'cited_by_api_url': 'https://api.openalex.org/works?filter=cites:W1604700754', 'counts_by_year': [{'year': 2024, 'cited_by_count': 2}, {'year': 2023, 'cited_by_count': 1}, {'year': 2022, 'cited_by_count': 1}, {'year': 2021, 'cited_by_count': 2}, {'year': 2020, 'cited_by_count': 3}, {'year': 2019, 'cited_by_count': 2}, {'year': 2018, 'cited_by_count': 1}, {'year': 2017, 'cited_by_count': 2}, {'year': 2016, 'cited_by_count': 1}, {'year': 2015, 'cited_by_count': 1}], 'updated_date': '2024-12-24T16:28:16.020477', 'created_date': '2016-06-24'}