Publication Information

{'id': 'https://openalex.org/W2567626615', 'doi': 'https://doi.org/10.1016/j.ymgme.2016.12.012', 'title': 'Nine years of newborn screening for classical galactosemia in the Netherlands: Effectiveness of screening methods, and identification of patients with previously unreported phenotypes', 'display_name': 'Nine years of newborn screening for classical galactosemia in the Netherlands: Effectiveness of screening methods, and identification of patients with previously unreported phenotypes', 'publication_year': 2016, 'publication_date': '2016-12-29', 'ids': {'openalex': 'https://openalex.org/W2567626615', 'doi': 'https://doi.org/10.1016/j.ymgme.2016.12.012', 'mag': '2567626615', 'pmid': 'https://pubmed.ncbi.nlm.nih.gov/28065439'}, 'language': 'en', 'primary_location': {'is_oa': False, 'landing_page_url': 'https://doi.org/10.1016/j.ymgme.2016.12.012', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S42433034', 'display_name': 'Molecular Genetics and Metabolism', 'issn_l': '1096-7192', 'issn': ['1096-7192', '1096-7206'], 'is_oa': False, 'is_in_doaj': False, 'is_core': True, 'host_organization': 'https://openalex.org/P4310320990', 'host_organization_name': 'Elsevier BV', 'host_organization_lineage': ['https://openalex.org/P4310320990'], 'host_organization_lineage_names': ['Elsevier BV'], '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/A5110438390', 'display_name': 'Lindsey Welling', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I2802928900', 'display_name': 'Academic Medical Center', 'ror': 'https://ror.org/03t4gr691', 'country_code': 'NL', 'type': 'healthcare', 'lineage': ['https://openalex.org/I2802928900', 'https://openalex.org/I4210151833']}], 'countries': ['NL'], 'is_corresponding': False, 'raw_author_name': 'Lindsey Welling', 'raw_affiliation_strings': ['Department of Pediatrics, Academic Medical Center, Amsterdam, The Netherlands'], 'affiliations': [{'raw_affiliation_string': 'Department of Pediatrics, Academic Medical Center, Amsterdam, The Netherlands', 'institution_ids': ['https://openalex.org/I2802928900']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5042061862', 'display_name': 'Anita Boelen', 'orcid': 'https://orcid.org/0000-0002-4994-2918'}, 'institutions': [{'id': 'https://openalex.org/I887064364', 'display_name': 'University of Amsterdam', 'ror': 'https://ror.org/04dkp9463', 'country_code': 'NL', 'type': 'education', 'lineage': ['https://openalex.org/I887064364']}, {'id': 'https://openalex.org/I2802928900', 'display_name': 'Academic Medical Center', 'ror': 'https://ror.org/03t4gr691', 'country_code': 'NL', 'type': 'healthcare', 'lineage': ['https://openalex.org/I2802928900', 'https://openalex.org/I4210151833']}], 'countries': ['NL'], 'is_corresponding': False, 'raw_author_name': 'Anita Boelen', 'raw_affiliation_strings': ['Department of Clinical Chemistry, Laboratory of Endocrinology, Academic Medical Center, University of Amsterdam, The Netherlands'], 'affiliations': [{'raw_affiliation_string': 'Department of Clinical Chemistry, Laboratory of Endocrinology, Academic Medical Center, University of Amsterdam, The Netherlands', 'institution_ids': ['https://openalex.org/I887064364', 'https://openalex.org/I2802928900']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5058441188', 'display_name': 'Terry G. J. Derks', 'orcid': 'https://orcid.org/0000-0002-7259-1095'}, 'institutions': [{'id': 'https://openalex.org/I1334415907', 'display_name': 'University Medical Center Groningen', 'ror': 'https://ror.org/03cv38k47', 'country_code': 'NL', 'type': 'healthcare', 'lineage': ['https://openalex.org/I1334415907']}, {'id': 'https://openalex.org/I169381384', 'display_name': 'University of Groningen', 'ror': 'https://ror.org/012p63287', 'country_code': 'NL', 'type': 'education', 'lineage': ['https://openalex.org/I169381384']}], 'countries': ['NL'], 'is_corresponding': False, 'raw_author_name': 'Terry G.J. Derks', 'raw_affiliation_strings': ["Section of Metabolic Diseases, Beatrix Children's Hospital, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands"], 'affiliations': [{'raw_affiliation_string': "Section of Metabolic Diseases, Beatrix Children's Hospital, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands", 'institution_ids': ['https://openalex.org/I1334415907', 'https://openalex.org/I169381384']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5057836387', 'display_name': 'Peter C. J. I. Schielen', 'orcid': 'https://orcid.org/0000-0002-5630-7322'}, 'institutions': [{'id': 'https://openalex.org/I4210104433', 'display_name': 'National Institute for Public Health and the Environment', 'ror': 'https://ror.org/01cesdt21', 'country_code': 'NL', 'type': 'facility', 'lineage': ['https://openalex.org/I4210104433']}], 'countries': ['NL'], 'is_corresponding': False, 'raw_author_name': 'Peter C.J.I. Schielen', 'raw_affiliation_strings': ['Centre for Infectious Diseases Research, Diagnostics and Screening (IDS), National Institute for Public Health and the Environment (RIVM), Bilthoven, The Netherlands'], 'affiliations': [{'raw_affiliation_string': 'Centre for Infectious Diseases Research, Diagnostics and Screening (IDS), National Institute for Public Health and the Environment (RIVM), Bilthoven, The Netherlands', 'institution_ids': ['https://openalex.org/I4210104433']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5002184682', 'display_name': 'Maaike de Vries', 'orcid': 'https://orcid.org/0000-0001-7210-8174'}, 'institutions': [{'id': 'https://openalex.org/I145872427', 'display_name': 'Radboud University Nijmegen', 'ror': 'https://ror.org/016xsfp80', 'country_code': 'NL', 'type': 'education', 'lineage': ['https://openalex.org/I145872427']}, {'id': 'https://openalex.org/I2802934949', 'display_name': 'Radboud University Medical Center', 'ror': 'https://ror.org/05wg1m734', 'country_code': 'NL', 'type': 'healthcare', 'lineage': ['https://openalex.org/I2802934949']}], 'countries': ['NL'], 'is_corresponding': False, 'raw_author_name': 'Maaike de Vries', 'raw_affiliation_strings': ['Department of Pediatrics, University Medical Center St Radboud Nijmegen, Nijmegen, The Netherlands'], 'affiliations': [{'raw_affiliation_string': 'Department of Pediatrics, University Medical Center St Radboud Nijmegen, Nijmegen, The Netherlands', 'institution_ids': ['https://openalex.org/I145872427', 'https://openalex.org/I2802934949']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5101957704', 'display_name': 'Monique Williams', 'orcid': 'https://orcid.org/0000-0003-4645-6612'}, 'institutions': [{'id': 'https://openalex.org/I4210142620', 'display_name': 'Erasmus MC - Sophia Children’s Hospital', 'ror': 'https://ror.org/047afsm11', 'country_code': 'NL', 'type': 'healthcare', 'lineage': ['https://openalex.org/I2801952686', 'https://openalex.org/I4210142620']}, {'id': 'https://openalex.org/I913958620', 'display_name': 'Erasmus University Rotterdam', 'ror': 'https://ror.org/057w15z03', 'country_code': 'NL', 'type': 'education', 'lineage': ['https://openalex.org/I913958620']}], 'countries': ['NL'], 'is_corresponding': False, 'raw_author_name': 'Monique Williams', 'raw_affiliation_strings': ["Department of Pediatrics, Erasmus MC-Sophia children's Hospital, Erasmus University Rotterdam, Rotterdam, The Netherlands"], 'affiliations': [{'raw_affiliation_string': "Department of Pediatrics, Erasmus MC-Sophia children's Hospital, Erasmus University Rotterdam, Rotterdam, The Netherlands", 'institution_ids': ['https://openalex.org/I4210142620', 'https://openalex.org/I913958620']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5045909899', 'display_name': 'Frits A. Wijburg', 'orcid': 'https://orcid.org/0000-0002-0950-1368'}, 'institutions': [{'id': 'https://openalex.org/I2802928900', 'display_name': 'Academic Medical Center', 'ror': 'https://ror.org/03t4gr691', 'country_code': 'NL', 'type': 'healthcare', 'lineage': ['https://openalex.org/I2802928900', 'https://openalex.org/I4210151833']}], 'countries': ['NL'], 'is_corresponding': False, 'raw_author_name': 'Frits A. Wijburg', 'raw_affiliation_strings': ['Department of Pediatrics, Academic Medical Center, Amsterdam, The Netherlands'], 'affiliations': [{'raw_affiliation_string': 'Department of Pediatrics, Academic Medical Center, Amsterdam, The Netherlands', 'institution_ids': ['https://openalex.org/I2802928900']}]}, {'author_position': 'last', 'author': {'id': 'https://openalex.org/A5002973087', 'display_name': 'Annet M. Bosch', 'orcid': 'https://orcid.org/0000-0001-5027-5916'}, 'institutions': [{'id': 'https://openalex.org/I2802928900', 'display_name': 'Academic Medical Center', 'ror': 'https://ror.org/03t4gr691', 'country_code': 'NL', 'type': 'healthcare', 'lineage': ['https://openalex.org/I2802928900', 'https://openalex.org/I4210151833']}], 'countries': ['NL'], 'is_corresponding': True, 'raw_author_name': 'Annet M. Bosch', 'raw_affiliation_strings': ['Department of Pediatrics, Academic Medical Center, Amsterdam, The Netherlands'], 'affiliations': [{'raw_affiliation_string': 'Department of Pediatrics, Academic Medical Center, Amsterdam, The Netherlands', 'institution_ids': ['https://openalex.org/I2802928900']}]}], 'institution_assertions': [], 'countries_distinct_count': 1, 'institutions_distinct_count': 9, 'corresponding_author_ids': ['https://openalex.org/A5002973087'], 'corresponding_institution_ids': ['https://openalex.org/I2802928900'], 'apc_list': {'value': 3570, 'currency': 'USD', 'value_usd': 3570, 'provenance': 'doaj'}, 'apc_paid': None, 'fwci': 3.174, 'has_fulltext': True, 'fulltext_origin': 'ngrams', 'cited_by_count': 38, 'citation_normalized_percentile': {'value': 0.880487, 'is_in_top_1_percent': False, 'is_in_top_10_percent': False}, 'cited_by_percentile_year': {'min': 95, 'max': 96}, 'biblio': {'volume': '120', 'issue': '3', 'first_page': '223', 'last_page': '228'}, '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/T12068', 'display_name': 'Neonatal Health and Biochemistry', 'score': 0.9992, 'subfield': {'id': 'https://openalex.org/subfields/2735', 'display_name': 'Pediatrics, Perinatology and Child Health'}, '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/T12770', 'display_name': 'Amino Acid Enzymes and Metabolism', 'score': 0.9989, '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'}}], 'keywords': [{'id': 'https://openalex.org/keywords/galactosemia', 'display_name': 'Galactosemia', 'score': 0.99357355}, {'id': 'https://openalex.org/keywords/dried-blood', 'display_name': 'Dried blood', 'score': 0.6343451}], 'concepts': [{'id': 'https://openalex.org/C2779274956', 'wikidata': 'https://www.wikidata.org/wiki/Q774483', 'display_name': 'Galactosemia', 'level': 3, 'score': 0.99357355}, {'id': 'https://openalex.org/C2776169613', 'wikidata': 'https://www.wikidata.org/wiki/Q2305910', 'display_name': 'Newborn screening', 'level': 2, 'score': 0.8776382}, {'id': 'https://openalex.org/C3017516299', 'wikidata': 'https://www.wikidata.org/wiki/Q886705', 'display_name': 'Dried blood', 'level': 2, 'score': 0.6343451}, {'id': 'https://openalex.org/C2778173381', 'wikidata': 'https://www.wikidata.org/wiki/Q66589593', 'display_name': 'Galactose', 'level': 2, 'score': 0.61672395}, {'id': 'https://openalex.org/C71924100', 'wikidata': 'https://www.wikidata.org/wiki/Q11190', 'display_name': 'Medicine', 'level': 0, 'score': 0.61587375}, {'id': 'https://openalex.org/C187212893', 'wikidata': 'https://www.wikidata.org/wiki/Q123028', 'display_name': 'Pediatrics', 'level': 1, 'score': 0.5357705}, {'id': 'https://openalex.org/C127716648', 'wikidata': 'https://www.wikidata.org/wiki/Q104053', 'display_name': 'Phenotype', 'level': 3, 'score': 0.5203}, {'id': 'https://openalex.org/C135763542', 'wikidata': 'https://www.wikidata.org/wiki/Q106016', 'display_name': 'Genotype', 'level': 3, 'score': 0.4965785}, {'id': 'https://openalex.org/C126322002', 'wikidata': 'https://www.wikidata.org/wiki/Q11180', 'display_name': 'Internal medicine', 'level': 1, 'score': 0.42776692}, {'id': 'https://openalex.org/C90924648', 'wikidata': 'https://www.wikidata.org/wiki/Q120569', 'display_name': 'Gastroenterology', 'level': 1, 'score': 0.35065395}, {'id': 'https://openalex.org/C55493867', 'wikidata': 'https://www.wikidata.org/wiki/Q7094', 'display_name': 'Biochemistry', 'level': 1, 'score': 0.272102}, {'id': 'https://openalex.org/C86803240', 'wikidata': 'https://www.wikidata.org/wiki/Q420', 'display_name': 'Biology', 'level': 0, 'score': 0.2639259}, {'id': 'https://openalex.org/C185592680', 'wikidata': 'https://www.wikidata.org/wiki/Q2329', 'display_name': 'Chemistry', 'level': 0, 'score': 0.18029049}, {'id': 'https://openalex.org/C43617362', 'wikidata': 'https://www.wikidata.org/wiki/Q170050', 'display_name': 'Chromatography', 'level': 1, 'score': 0.10766959}, {'id': 'https://openalex.org/C104317684', 'wikidata': 'https://www.wikidata.org/wiki/Q7187', 'display_name': 'Gene', 'level': 2, 'score': 0.08205572}], 'mesh': [{'descriptor_ui': 'D005690', 'descriptor_name': 'Galactose', 'qualifier_ui': 'Q000097', 'qualifier_name': 'blood', 'is_major_topic': True}, {'descriptor_ui': 'D005693', 'descriptor_name': 'Galactosemias', 'qualifier_ui': 'Q000175', 'qualifier_name': 'diagnosis', 'is_major_topic': True}, {'descriptor_ui': 'D015997', 'descriptor_name': 'Neonatal Screening', 'qualifier_ui': 'Q000379', 'qualifier_name': 'methods', 'is_major_topic': True}, {'descriptor_ui': 'D005694', 'descriptor_name': 'UTP-Hexose-1-Phosphate Uridylyltransferase', 'qualifier_ui': 'Q000378', 'qualifier_name': 'metabolism', 'is_major_topic': True}, {'descriptor_ui': 'D005189', 'descriptor_name': 'False Positive Reactions', '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': 'D005690', 'descriptor_name': 'Galactose', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D005693', 'descriptor_name': 'Galactosemias', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': False}, {'descriptor_ui': 'D005693', 'descriptor_name': 'Galactosemias', 'qualifier_ui': 'Q000378', 'qualifier_name': 'metabolism', 'is_major_topic': False}, {'descriptor_ui': 'D005693', 'descriptor_name': 'Galactosemias', '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': 'D007231', 'descriptor_name': 'Infant, Newborn', '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': 'D015997', 'descriptor_name': 'Neonatal Screening', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D009426', 'descriptor_name': 'Netherlands', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D010641', 'descriptor_name': 'Phenotype', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D012189', 'descriptor_name': 'Retrospective Studies', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D012680', 'descriptor_name': 'Sensitivity and Specificity', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D005694', 'descriptor_name': 'UTP-Hexose-1-Phosphate Uridylyltransferase', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}], 'locations_count': 2, 'locations': [{'is_oa': False, 'landing_page_url': 'https://doi.org/10.1016/j.ymgme.2016.12.012', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S42433034', 'display_name': 'Molecular Genetics and Metabolism', 'issn_l': '1096-7192', 'issn': ['1096-7192', '1096-7206'], 'is_oa': False, 'is_in_doaj': False, 'is_core': True, 'host_organization': 'https://openalex.org/P4310320990', 'host_organization_name': 'Elsevier BV', 'host_organization_lineage': ['https://openalex.org/P4310320990'], 'host_organization_lineage_names': ['Elsevier BV'], '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/28065439', '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': [{'id': 'https://metadata.un.org/sdg/3', 'display_name': 'Good health and well-being', 'score': 0.55}], 'grants': [], 'datasets': [], 'versions': [], 'referenced_works_count': 16, 'referenced_works': ['https://openalex.org/W136294813', 'https://openalex.org/W1599056620', 'https://openalex.org/W1979096090', 'https://openalex.org/W1994497616', 'https://openalex.org/W2020634801', 'https://openalex.org/W2024328599', 'https://openalex.org/W2024637462', 'https://openalex.org/W2078766284', 'https://openalex.org/W2093476604', 'https://openalex.org/W2122593361', 'https://openalex.org/W2124782654', 'https://openalex.org/W2160349498', 'https://openalex.org/W2344350847', 'https://openalex.org/W2399997720', 'https://openalex.org/W2553074307', 'https://openalex.org/W618343152'], 'related_works': ['https://openalex.org/W4311377013', 'https://openalex.org/W2794816176', 'https://openalex.org/W2098037261', 'https://openalex.org/W2050293394', 'https://openalex.org/W2045845371', 'https://openalex.org/W2040067845', 'https://openalex.org/W2016957679', 'https://openalex.org/W1998472795', 'https://openalex.org/W1998333343', 'https://openalex.org/W1983998210'], 'abstract_inverted_index': None, 'cited_by_api_url': 'https://api.openalex.org/works?filter=cites:W2567626615', 'counts_by_year': [{'year': 2024, 'cited_by_count': 6}, {'year': 2023, 'cited_by_count': 4}, {'year': 2022, 'cited_by_count': 8}, {'year': 2021, 'cited_by_count': 1}, {'year': 2020, 'cited_by_count': 5}, {'year': 2019, 'cited_by_count': 8}, {'year': 2018, 'cited_by_count': 5}, {'year': 2017, 'cited_by_count': 1}], 'updated_date': '2024-12-08T00:57:58.091537', 'created_date': '2017-01-06'}