Publication Information

{'id': 'https://openalex.org/W2171563687', 'doi': 'https://doi.org/10.7196/sajch.36', 'title': 'Newborn screening for classic galactosaemia and primary congenital hypothyroidism in the Nkangala district of Mpumalanga province, South Africa', 'display_name': 'Newborn screening for classic galactosaemia and primary congenital hypothyroidism in the Nkangala district of Mpumalanga province, South Africa', 'publication_year': 2008, 'publication_date': '2008-04-23', 'ids': {'openalex': 'https://openalex.org/W2171563687', 'doi': 'https://doi.org/10.7196/sajch.36', 'mag': '2171563687'}, 'language': 'en', 'primary_location': {'is_oa': False, 'landing_page_url': 'https://journals.co.za/content/m_sajch/2/1/EJC64692', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S2736485139', 'display_name': 'South African Journal of Child Health', 'issn_l': '1994-3032', 'issn': ['1994-3032', '1999-7671'], 'is_oa': True, 'is_in_doaj': True, 'is_core': False, 'host_organization': 'https://openalex.org/P4310315351', 'host_organization_name': 'Health and Medical Publishing Group', 'host_organization_lineage': ['https://openalex.org/P4310315351'], 'host_organization_lineage_names': ['Health and Medical Publishing Group'], 'type': 'journal'}, 'license': None, 'license_id': None, 'version': None, 'is_accepted': False, 'is_published': False}, 'type': 'article', 'type_crossref': 'journal-article', 'indexed_in': [], '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/A5008865220', 'display_name': 'Phiyani Lebea', 'orcid': 'https://orcid.org/0000-0001-5726-9332'}, 'institutions': [], 'countries': [], 'is_corresponding': False, 'raw_author_name': 'Phiyani Justice Lebea', 'raw_affiliation_strings': ['[Council for Scientific and Industrial Research (CSIR)]'], 'affiliations': [{'raw_affiliation_string': '[Council for Scientific and Industrial Research (CSIR)]', 'institution_ids': []}]}, {'author_position': 'last', 'author': {'id': 'https://openalex.org/A5101450491', 'display_name': 'Pieter Pretorius', 'orcid': 'https://orcid.org/0000-0002-4543-676X'}, 'institutions': [{'id': 'https://openalex.org/I27765905', 'display_name': 'North-West University', 'ror': 'https://ror.org/010f1sq29', 'country_code': 'ZA', 'type': 'education', 'lineage': ['https://openalex.org/I27765905']}], 'countries': ['ZA'], 'is_corresponding': False, 'raw_author_name': 'Pieter J Pretorius', 'raw_affiliation_strings': ['North West  University'], 'affiliations': [{'raw_affiliation_string': 'North West  University', 'institution_ids': ['https://openalex.org/I27765905']}]}], 'institution_assertions': [], 'countries_distinct_count': 1, 'institutions_distinct_count': 1, 'corresponding_author_ids': [], 'corresponding_institution_ids': [], 'apc_list': {'value': 0, 'currency': 'USD', 'value_usd': 0, 'provenance': 'doaj'}, 'apc_paid': None, 'fwci': 0.0, 'has_fulltext': False, 'cited_by_count': 7, 'citation_normalized_percentile': {'value': 0.623883, 'is_in_top_1_percent': False, 'is_in_top_10_percent': False}, 'cited_by_percentile_year': {'min': 81, 'max': 82}, 'biblio': {'volume': '2', 'issue': '1', 'first_page': '19', 'last_page': '22'}, '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': 0.9979, '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/T12267', 'display_name': 'Diet and metabolism studies', 'score': 0.9916, '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/galactosemia', 'display_name': 'Galactosemia', 'score': 0.9966777}, {'id': 'https://openalex.org/keywords/congenital-hypothyroidism', 'display_name': 'Congenital hypothyroidism', 'score': 0.7232611}], 'concepts': [{'id': 'https://openalex.org/C2779274956', 'wikidata': 'https://www.wikidata.org/wiki/Q774483', 'display_name': 'Galactosemia', 'level': 3, 'score': 0.9966777}, {'id': 'https://openalex.org/C71924100', 'wikidata': 'https://www.wikidata.org/wiki/Q11190', 'display_name': 'Medicine', 'level': 0, 'score': 0.86658955}, {'id': 'https://openalex.org/C2776169613', 'wikidata': 'https://www.wikidata.org/wiki/Q2305910', 'display_name': 'Newborn screening', 'level': 2, 'score': 0.8434725}, {'id': 'https://openalex.org/C2779258352', 'wikidata': 'https://www.wikidata.org/wiki/Q531012', 'display_name': 'Congenital hypothyroidism', 'level': 3, 'score': 0.7232611}, {'id': 'https://openalex.org/C187212893', 'wikidata': 'https://www.wikidata.org/wiki/Q123028', 'display_name': 'Pediatrics', 'level': 1, 'score': 0.68043065}, {'id': 'https://openalex.org/C61511704', 'wikidata': 'https://www.wikidata.org/wiki/Q1671857', 'display_name': 'Incidence (geometry)', 'level': 2, 'score': 0.6453703}, {'id': 'https://openalex.org/C2778173381', 'wikidata': 'https://www.wikidata.org/wiki/Q66589593', 'display_name': 'Galactose', 'level': 2, 'score': 0.49802327}, {'id': 'https://openalex.org/C126322002', 'wikidata': 'https://www.wikidata.org/wiki/Q11180', 'display_name': 'Internal medicine', 'level': 1, 'score': 0.33933657}, {'id': 'https://openalex.org/C526584372', 'wikidata': 'https://www.wikidata.org/wiki/Q16399', 'display_name': 'Thyroid', 'level': 2, 'score': 0.17566812}, {'id': 'https://openalex.org/C55493867', 'wikidata': 'https://www.wikidata.org/wiki/Q7094', 'display_name': 'Biochemistry', 'level': 1, 'score': 0.079538524}, {'id': 'https://openalex.org/C86803240', 'wikidata': 'https://www.wikidata.org/wiki/Q420', 'display_name': 'Biology', 'level': 0, 'score': 0.076685995}, {'id': 'https://openalex.org/C121332964', 'wikidata': 'https://www.wikidata.org/wiki/Q413', 'display_name': 'Physics', 'level': 0, 'score': 0.0}, {'id': 'https://openalex.org/C120665830', 'wikidata': 'https://www.wikidata.org/wiki/Q14620', 'display_name': 'Optics', 'level': 1, 'score': 0.0}], 'mesh': [], 'locations_count': 1, 'locations': [{'is_oa': False, 'landing_page_url': 'https://journals.co.za/content/m_sajch/2/1/EJC64692', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S2736485139', 'display_name': 'South African Journal of Child Health', 'issn_l': '1994-3032', 'issn': ['1994-3032', '1999-7671'], 'is_oa': True, 'is_in_doaj': True, 'is_core': False, 'host_organization': 'https://openalex.org/P4310315351', 'host_organization_name': 'Health and Medical Publishing Group', 'host_organization_lineage': ['https://openalex.org/P4310315351'], 'host_organization_lineage_names': ['Health and Medical Publishing Group'], 'type': 'journal'}, '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', 'score': 0.5, 'id': 'https://metadata.un.org/sdg/3'}], 'grants': [], 'datasets': [], 'versions': [], 'referenced_works_count': 12, 'referenced_works': ['https://openalex.org/W150095004', 'https://openalex.org/W1507958108', 'https://openalex.org/W1579888501', 'https://openalex.org/W1948408879', 'https://openalex.org/W1993657169', 'https://openalex.org/W2002499166', 'https://openalex.org/W2018136178', 'https://openalex.org/W2042071604', 'https://openalex.org/W2067463727', 'https://openalex.org/W2126493973', 'https://openalex.org/W2169616927', 'https://openalex.org/W2230616330'], 'related_works': ['https://openalex.org/W3028657496', 'https://openalex.org/W2917157158', 'https://openalex.org/W2416276657', 'https://openalex.org/W2403254519', 'https://openalex.org/W2381659575', 'https://openalex.org/W2380943515', 'https://openalex.org/W2378944814', 'https://openalex.org/W2378617705', 'https://openalex.org/W2364834078', 'https://openalex.org/W2352542382', 'https://openalex.org/W2349525151', 'https://openalex.org/W2339614918', 'https://openalex.org/W2184258474', 'https://openalex.org/W2154501300', 'https://openalex.org/W2044070070', 'https://openalex.org/W1997199324', 'https://openalex.org/W1991100752', 'https://openalex.org/W1980896818', 'https://openalex.org/W1965894386', 'https://openalex.org/W1876803660'], 'abstract_inverted_index': {'Objectives:': [0], 'The': [1, 72, 181], 'main': [2], 'objective': [3], 'of': [4, 13, 23, 35, 52, 59, 99, 130, 137, 142, 149, 158, 183, 193, 211], 'this': [5], 'work': [6], 'was': [7, 38, 106, 125, 174, 185, 201], 'to': [8, 69, 95, 108, 135, 155, 187, 203, 245], 'establish': [9], 'the': [10, 20, 26, 56, 97, 100, 114, 128, 131, 166, 171, 194, 238], 'newborn': [11, 33, 53, 132, 220], 'incidence': [12, 182], 'classic': [14, 78, 198, 225, 251], 'galactosemia': [15, 79, 159, 226, 252], 'and': [16, 41, 80, 120, 146, 160, 227], 'congenital': [17, 228], 'hypothyroidism': [18, 81, 184, 229, 243], 'within': [19], 'Nkangala': [21, 57], 'district': [22, 58], 'Mpumalanga.': [24], 'In': [25], 'process': [27], 'a': [28, 63], 'cost': [29, 179], 'effective': [30, 219], 'protocol': [31, 173, 215], 'for': [32, 77, 176], 'screening': [34, 172, 212, 221], 'both': [36], 'diseases': [37], 'developed.\r\nStudy': [39], 'design': [40], 'setting:': [42], 'Blood': [43], 'spot': [44], 'specimens': [45, 73], 'were': [46, 74, 92, 153], 'collected': [47], 'from': [48, 67, 127], 'over': [49], '30': [50], '%': [51, 190, 205], 'infants': [54, 133], 'in': [55, 62, 113, 165, 178, 207, 247], 'Mpumalanga': [60], 'Province': [61], 'six': [64], 'month': [65], 'period': [66], 'June': [68], 'November': [70], '2005.': [71], 'subsequently': [75], 'screened': [76], 'using': [82], 'metabolite': [83], 'quantification': [84], 'assays.': [85, 103], 'GALT': [86, 115], '(galactose-1-phosphate': [87], 'uridyltransferase)': [88], 'enzyme': [89], 'activity': [90], 'assays': [91], 'also': [93], 'performed': [94], 'confirm': [96, 237], 'reliability': [98], 'total': [101, 167], 'galactose': [102, 140], 'Real-time': [104], 'PCR': [105], 'used': [107], 'detect': [109], 'commonly': [110], 'occurring': [111], 'mutations': [112], 'gene': [116], 'that': [117, 242], 'cause': [118], 'galactosemia.\r\nSubjects': [119], 'outcome': [121], 'measures:': [122], 'Informed': [123], 'consent': [124], 'obtained': [126], 'parents': [129], 'prior': [134], 'commencement': [136], 'screening.': [138], 'Total': [139], 'levels': [141], 'above': [143, 150], '0,9': [144], 'mg/L': [145], 'TSH': [147], 'concentrations': [148], '25,1': [151], 'mU/L': [152], 'considered': [154], 'be': [156, 188], 'indicative': [157], 'hypothyroidism,': [161], 'respectively.': [162], 'A': [163], 'decrease': [164], 'financial': [168], 'input': [169, 209], 'on': [170], 'evaluated': [175], 'significance': [177], 'reduction.\r\nResults:': [180], 'found': [186], '0.1': [189], 'while': [191], 'none': [192], 'newborns': [195], 'presented': [196], 'with': [197], 'galactosemia.': [199], 'There': [200], 'up': [202], '20': [204], 'reduction': [206], 'direct': [208], 'costs': [210], 'when': [213, 224], 'our': [214], 'is': [216, 222], 'applied.\r\nConclusion:': [217], 'Cost': [218], 'possible': [223], 'are': [230], 'screened,': [231], 'simultaneously.': [232], 'Cumulative': [233], 'disease': [234], 'frequency': [235], 'plots': [236], 'already': [239], 'established': [240], 'fact': [241], 'tends': [244], 'prevail': [246], 'higher': [248], 'frequencies': [249], 'than': [250]}, 'cited_by_api_url': 'https://api.openalex.org/works?filter=cites:W2171563687', 'counts_by_year': [{'year': 2023, 'cited_by_count': 1}, {'year': 2021, 'cited_by_count': 1}, {'year': 2015, 'cited_by_count': 2}, {'year': 2014, 'cited_by_count': 2}, {'year': 2013, 'cited_by_count': 1}], 'updated_date': '2024-12-08T16:32:24.297236', 'created_date': '2016-06-24'}