A Chinese family with phenylketonuria and maternal phenylketonuria detected by family screening

Name: Work Video:
Duration: 3 min 30 s
Kwang-Jen Hsiao; C. H. Chen; Por-Fen Chiu; Shao-Wei Huang; Kuang-Dong Wuu
{'id': 'https://openalex.org/W2057758068', 'doi': 'https://doi.org/10.1007/bf00439250', 'title': 'A Chinese family with phenylketonuria and maternal phenylketonuria detected by family screening', 'display_name': 'A Chinese family with phenylketonuria and maternal phenylketonuria detected by family screening', 'publication_year': 1986, 'publication_date': '1986-10-01', 'ids': {'openalex': 'https://openalex.org/W2057758068', 'doi': 'https://doi.org/10.1007/bf00439250', 'mag': '2057758068', 'pmid': 'https://pubmed.ncbi.nlm.nih.gov/3792388'}, 'language': 'en', 'primary_location': {'is_oa': False, 'landing_page_url': 'https://doi.org/10.1007/bf00439250', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S48201647', 'display_name': 'European Journal of Pediatrics', 'issn_l': '0340-6199', 'issn': ['0340-6199', '1432-1076'], 'is_oa': False, 'is_in_doaj': False, 'is_core': True, 'host_organization': 'https://openalex.org/P4310319900', 'host_organization_name': 'Springer Science+Business Media', 'host_organization_lineage': ['https://openalex.org/P4310319965', 'https://openalex.org/P4310319900'], 'host_organization_lineage_names': ['Springer Nature', 'Springer Science+Business Media'], 'type': 'journal'}, 'license': None, 'license_id': None, 'version': None, 'is_accepted': False, 'is_published': False}, 'type': 'article', '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/A5054666861', 'display_name': 'Kwang-Jen Hsiao', 'orcid': 'https://orcid.org/0000-0001-7621-090X'}, 'institutions': [{'id': 'https://openalex.org/I2803004286', 'display_name': 'Taipei Veterans General Hospital', 'ror': 'https://ror.org/03ymy8z76', 'country_code': 'TW', 'type': 'healthcare', 'lineage': ['https://openalex.org/I2803004286']}], 'countries': ['TW'], 'is_corresponding': False, 'raw_author_name': 'K. -J. Hsiao', 'raw_affiliation_strings': ['Department of Medical Research, Veterans General Hospital-Taipei, Taiwan, Republic of China.'], 'affiliations': [{'raw_affiliation_string': 'Department of Medical Research, Veterans General Hospital-Taipei, Taiwan, Republic of China.', 'institution_ids': ['https://openalex.org/I2803004286']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5111934613', 'display_name': 'C. H. Chen', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I2803004286', 'display_name': 'Taipei Veterans General Hospital', 'ror': 'https://ror.org/03ymy8z76', 'country_code': 'TW', 'type': 'healthcare', 'lineage': ['https://openalex.org/I2803004286']}], 'countries': ['TW'], 'is_corresponding': False, 'raw_author_name': 'C. -H. Chen', 'raw_affiliation_strings': ['Department of Psychiatry, Veterans General Hospital, Taipei, Taiwan Republic of China'], 'affiliations': [{'raw_affiliation_string': 'Department of Psychiatry, Veterans General Hospital, Taipei, Taiwan Republic of China', 'institution_ids': ['https://openalex.org/I2803004286']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5054870206', 'display_name': 'Por-Fen Chiu', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I2803004286', 'display_name': 'Taipei Veterans General Hospital', 'ror': 'https://ror.org/03ymy8z76', 'country_code': 'TW', 'type': 'healthcare', 'lineage': ['https://openalex.org/I2803004286']}], 'countries': ['TW'], 'is_corresponding': False, 'raw_author_name': 'P. -C. Chiu', 'raw_affiliation_strings': ['Department of Pediatrics, Veterans General Hospital, Taipei, Taiwan Republic of China'], 'affiliations': [{'raw_affiliation_string': 'Department of Pediatrics, Veterans General Hospital, Taipei, Taiwan Republic of China', 'institution_ids': ['https://openalex.org/I2803004286']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5112390748', 'display_name': 'Shao-Wei Huang', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I2803004286', 'display_name': 'Taipei Veterans General Hospital', 'ror': 'https://ror.org/03ymy8z76', 'country_code': 'TW', 'type': 'healthcare', 'lineage': ['https://openalex.org/I2803004286']}], 'countries': ['TW'], 'is_corresponding': False, 'raw_author_name': 'S. -C. Huang', 'raw_affiliation_strings': ['Department of Psychiatry, Veterans General Hospital, Taipei, Taiwan Republic of China'], 'affiliations': [{'raw_affiliation_string': 'Department of Psychiatry, Veterans General Hospital, Taipei, Taiwan Republic of China', 'institution_ids': ['https://openalex.org/I2803004286']}]}, {'author_position': 'last', 'author': {'id': 'https://openalex.org/A5113751979', 'display_name': 'Kuang-Dong Wuu', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I2800232565', 'display_name': 'Beijing Chao-Yang Hospital', 'ror': 'https://ror.org/01eff5662', 'country_code': 'CN', 'type': 'healthcare', 'lineage': ['https://openalex.org/I2800232565', 'https://openalex.org/I4210135108']}], 'countries': ['CN'], 'is_corresponding': False, 'raw_author_name': 'K. -D. Wuu', 'raw_affiliation_strings': ['Genetics Laboratory, National Yang-Ming Medical College, Taipei, Taiwan Republic of China'], 'affiliations': [{'raw_affiliation_string': 'Genetics Laboratory, National Yang-Ming Medical College, Taipei, Taiwan Republic of China', 'institution_ids': ['https://openalex.org/I2800232565']}]}], 'institution_assertions': [], 'countries_distinct_count': 2, 'institutions_distinct_count': 2, 'corresponding_author_ids': [], 'corresponding_institution_ids': [], 'apc_list': {'value': 3390, 'currency': 'EUR', 'value_usd': 4390, 'provenance': 'doaj'}, 'apc_paid': None, 'fwci': 0.374, 'has_fulltext': True, 'fulltext_origin': 'ngrams', 'cited_by_count': 2, 'citation_normalized_percentile': {'value': 0.435299, 'is_in_top_1_percent': False, 'is_in_top_10_percent': False}, 'cited_by_percentile_year': {'min': 61, 'max': 66}, 'biblio': {'volume': '145', 'issue': '5', 'first_page': '409', 'last_page': '412'}, '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/T12267', 'display_name': 'Diet and metabolism studies', 'score': 0.9898, '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/T10836', 'display_name': 'Metabolomics and Mass Spectrometry Studies', 'score': 0.9744, '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/phenylketonurias', 'display_name': 'Phenylketonurias', 'score': 0.6222874}, {'id': 'https://openalex.org/keywords/chinese-family', 'display_name': 'Chinese family', 'score': 0.4734195}], 'concepts': [{'id': 'https://openalex.org/C71924100', 'wikidata': 'https://www.wikidata.org/wiki/Q11190', 'display_name': 'Medicine', 'level': 0, 'score': 0.9056822}, {'id': 'https://openalex.org/C2908963387', 'wikidata': 'https://www.wikidata.org/wiki/Q194041', 'display_name': 'Phenylketonurias', 'level': 4, 'score': 0.6222874}, {'id': 'https://openalex.org/C187212893', 'wikidata': 'https://www.wikidata.org/wiki/Q123028', 'display_name': 'Pediatrics', 'level': 1, 'score': 0.5383213}, {'id': 'https://openalex.org/C2994554639', 'wikidata': 'https://www.wikidata.org/wiki/Q15977609', 'display_name': 'Chinese family', 'level': 3, 'score': 0.4734195}, {'id': 'https://openalex.org/C2777431362', 'wikidata': 'https://www.wikidata.org/wiki/Q170545', 'display_name': 'Phenylalanine', 'level': 3, 'score': 0.41639683}, {'id': 'https://openalex.org/C55493867', 'wikidata': 'https://www.wikidata.org/wiki/Q7094', 'display_name': 'Biochemistry', 'level': 1, 'score': 0.078992456}, {'id': 'https://openalex.org/C515207424', 'wikidata': 'https://www.wikidata.org/wiki/Q8066', 'display_name': 'Amino acid', 'level': 2, 'score': 0.062901706}, {'id': 'https://openalex.org/C104317684', 'wikidata': 'https://www.wikidata.org/wiki/Q7187', 'display_name': 'Gene', 'level': 2, 'score': 0.0}, {'id': 'https://openalex.org/C185592680', 'wikidata': 'https://www.wikidata.org/wiki/Q2329', 'display_name': 'Chemistry', 'level': 0, 'score': 0.0}], 'mesh': [{'descriptor_ui': 'D010661', 'descriptor_name': 'Phenylketonurias', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', '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': 'D005260', 'descriptor_name': 'Female', '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': 'D008607', 'descriptor_name': 'Intellectual Disability', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D008607', 'descriptor_name': 'Intellectual Disability', 'qualifier_ui': 'Q000209', 'qualifier_name': 'etiology', 'is_major_topic': False}, {'descriptor_ui': 'D008297', 'descriptor_name': 'Male', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D008403', 'descriptor_name': 'Mass Screening', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D010375', 'descriptor_name': 'Pedigree', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D010661', 'descriptor_name': 'Phenylketonurias', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D010661', 'descriptor_name': 'Phenylketonurias', 'qualifier_ui': 'Q000097', 'qualifier_name': 'blood', 'is_major_topic': False}, {'descriptor_ui': 'D010661', 'descriptor_name': 'Phenylketonurias', 'qualifier_ui': 'Q000150', 'qualifier_name': 'complications', 'is_major_topic': False}], 'locations_count': 2, 'locations': [{'is_oa': False, 'landing_page_url': 'https://doi.org/10.1007/bf00439250', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S48201647', 'display_name': 'European Journal of Pediatrics', 'issn_l': '0340-6199', 'issn': ['0340-6199', '1432-1076'], 'is_oa': False, 'is_in_doaj': False, 'is_core': True, 'host_organization': 'https://openalex.org/P4310319900', 'host_organization_name': 'Springer Science+Business Media', 'host_organization_lineage': ['https://openalex.org/P4310319965', 'https://openalex.org/P4310319900'], 'host_organization_lineage_names': ['Springer Nature', 'Springer Science+Business Media'], '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/3792388', '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': [], 'grants': [], 'datasets': [], 'versions': [], 'referenced_works_count': 25, 'referenced_works': ['https://openalex.org/W1700762969', 'https://openalex.org/W1970322710', 'https://openalex.org/W1999890908', 'https://openalex.org/W2014482810', 'https://openalex.org/W2025029077', 'https://openalex.org/W2036064499', 'https://openalex.org/W2071945617', 'https://openalex.org/W2127631498', 'https://openalex.org/W22560477', 'https://openalex.org/W2273530231', 'https://openalex.org/W2313030681', 'https://openalex.org/W2323363944', 'https://openalex.org/W2340770007', 'https://openalex.org/W2399750350', 'https://openalex.org/W2410121610', 'https://openalex.org/W2410921773', 'https://openalex.org/W2418495593', 'https://openalex.org/W2466108461', 'https://openalex.org/W2911197675', 'https://openalex.org/W2976484797', 'https://openalex.org/W3195770623', 'https://openalex.org/W34987017', 'https://openalex.org/W4237200441', 'https://openalex.org/W4255447898', 'https://openalex.org/W4300916728'], 'related_works': ['https://openalex.org/W4328001697', 'https://openalex.org/W3010969896', 'https://openalex.org/W2762428716', 'https://openalex.org/W2419643059', 'https://openalex.org/W2188589783', 'https://openalex.org/W2135333889', 'https://openalex.org/W2098848365', 'https://openalex.org/W2089659821', 'https://openalex.org/W2034160748', 'https://openalex.org/W1548230656'], 'abstract_inverted_index': None, 'cited_by_api_url': 'https://api.openalex.org/works?filter=cites:W2057758068', 'counts_by_year': [], 'updated_date': '2024-12-11T12:11:28.472401', 'created_date': '2016-06-24'}
Publication Information

Basic Information

Access and Citation

AI Researcher Chatbot

Primary Location

Authors

Topics

Keywords

Related Works
