{"id":"https://openalex.org/W6526547","doi":"https://doi.org/10.1023/a:1005568507267","title":"Glycogen storage disease type IV presenting as hydrops fetalis","display_name":"Glycogen storage disease type IV presenting as hydrops fetalis","publication_year":1999,"publication_date":"1999-05-01","ids":{"openalex":"https://openalex.org/W6526547","doi":"https://doi.org/10.1023/a:1005568507267","mag":"6526547","pmid":"https://pubmed.ncbi.nlm.nih.gov/10384399"},"language":"en","primary_location":{"id":"doi:10.1023/a:1005568507267","doi":"https://doi.org/10.1023/a:1005568507267","is_oa":false,"landing_page_url":"https://doi.org/10.1023/a:1005568507267","pdf_url":null,"source":{"id":"https://openalex.org/S186577254","display_name":"Journal of Inherited Metabolic Disease","issn_l":"0141-8955","issn":["0141-8955","1573-2665"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Inherited Metabolic Disease","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":null,"display_name":"A. Alegria","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"A. Alegria","raw_affiliation_strings":["Maternidade J\u00falio Dinis  Porto Portugal"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Maternidade J\u00falio Dinis  Porto Portugal","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5016561355","display_name":"Esmeralda Martins","orcid":"https://orcid.org/0000-0002-9247-9391","observed_orcids":["https://orcid.org/0000-0002-9247-9391"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"E. Martins","raw_affiliation_strings":["Instituto de Gen\u00e9tica M\u00e9dica  Porto Portugal"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Instituto de Gen\u00e9tica M\u00e9dica  Porto Portugal","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5103121636","display_name":"Maria Vit\u00f3ria Ferreira Dias","orcid":"https://orcid.org/0009-0009-0209-3865","observed_orcids":["https://orcid.org/0009-0009-0209-3865"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"M. Dias","raw_affiliation_strings":["Maternidade J\u00falio Dinis  Porto Portugal"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Maternidade J\u00falio Dinis  Porto Portugal","institution_ids":[]}]},{"author_position":"middle","author":{"id":null,"display_name":"A. Cunha","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"A. Cunha","raw_affiliation_strings":["Maternidade J\u00falio Dinis  Porto Portugal"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Maternidade J\u00falio Dinis  Porto Portugal","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5028602064","display_name":"Maria Lu\u0131\u0301s Cardoso","orcid":"https://orcid.org/0000-0002-8139-216X","observed_orcids":["https://orcid.org/0000-0002-8139-216X"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"M. L. Cardoso","raw_affiliation_strings":["Instituto de Gen\u00e9tica M\u00e9dica  Porto Portugal"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Instituto de Gen\u00e9tica M\u00e9dica  Porto Portugal","institution_ids":[]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5111900289","display_name":"Ir\ufffdne Maire","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210119578","display_name":"H\u00f4pital Debrousse","ror":"https://ror.org/02cc58y38","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210119578"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"I. Maire","raw_affiliation_strings":["H\u00f4pital Debrousse  Lyon France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"H\u00f4pital Debrousse  Lyon France","institution_ids":["https://openalex.org/I4210119578"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":3470,"currency":"USD","value_usd":3470},"apc_paid":null,"fwci":0.4302,"has_fulltext":false,"cited_by_count":39,"citation_normalized_percentile":{"value":0.60442469,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":98},"biblio":{"volume":"22","issue":"3","first_page":"330","last_page":"332"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12604","display_name":"Glycogen Storage Diseases and Myoclonus","score":0.9990000128746033,"subfield":{"id":"https://openalex.org/subfields/2745","display_name":"Rheumatology"},"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/T12604","display_name":"Glycogen Storage Diseases and Myoclonus","score":0.9990000128746033,"subfield":{"id":"https://openalex.org/subfields/2745","display_name":"Rheumatology"},"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/T11027","display_name":"Metabolism and Genetic Disorders","score":0.000699999975040555,"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/T10945","display_name":"Lysosomal Storage Disorders Research","score":9.999999747378752e-05,"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/glycogen-storage-disease-type-iv","display_name":"glycogen storage disease type IV","score":0.9980000257492065},{"id":"https://openalex.org/keywords/hydrops-fetalis","display_name":"hydrops fetalis","score":0.9160000085830688},{"id":"https://openalex.org/keywords/glycogen-synthase-deficiency","display_name":"glycogen synthase deficiency","score":0.6240000128746033}],"concepts":[{"id":"https://openalex.org/C2778805511","wikidata":"https://www.wikidata.org/wiki/Q1713","display_name":"Citation","level":2,"score":0.5341996550559998},{"id":"https://openalex.org/C15708023","wikidata":"https://www.wikidata.org/wiki/Q80083","display_name":"Humanities","level":1,"score":0.4910569190979004},{"id":"https://openalex.org/C2777674756","wikidata":"https://www.wikidata.org/wiki/Q1679678","display_name":"Hydrops fetalis","level":4,"score":0.47420361638069153},{"id":"https://openalex.org/C161191863","wikidata":"https://www.wikidata.org/wiki/Q199655","display_name":"Library science","level":1,"score":0.3056396245956421},{"id":"https://openalex.org/C138885662","wikidata":"https://www.wikidata.org/wiki/Q5891","display_name":"Philosophy","level":0,"score":0.24006369709968567},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.08962485194206238},{"id":"https://openalex.org/C46973012","wikidata":"https://www.wikidata.org/wiki/Q28627","display_name":"Gestation","level":3,"score":0.06749618053436279},{"id":"https://openalex.org/C2779234561","wikidata":"https://www.wikidata.org/wiki/Q11995","display_name":"Pregnancy","level":2,"score":0.05578261613845825},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.0},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.0}],"mesh":[{"descriptor_ui":"D003937","descriptor_name":"Diagnosis, Differential","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006011","descriptor_name":"Glycogen Storage Disease Type IV","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D006011","descriptor_name":"Glycogen Storage Disease Type IV","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007231","descriptor_name":"Infant, Newborn","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015160","descriptor_name":"Hydrops Fetalis","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D015160","descriptor_name":"Hydrops Fetalis","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D017809","descriptor_name":"Fatal Outcome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1023/a:1005568507267","doi":"https://doi.org/10.1023/a:1005568507267","is_oa":false,"landing_page_url":"https://doi.org/10.1023/a:1005568507267","pdf_url":null,"source":{"id":"https://openalex.org/S186577254","display_name":"Journal of Inherited Metabolic Disease","issn_l":"0141-8955","issn":["0141-8955","1573-2665"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Inherited Metabolic Disease","raw_type":"journal-article"},{"id":"pmid:10384399","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/10384399","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of inherited metabolic disease","raw_type":"Case Reports"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.8048999905586243,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":4,"referenced_works":["https://openalex.org/W1975195571","https://openalex.org/W2039461643","https://openalex.org/W2047985200","https://openalex.org/W2395482796"],"related_works":["https://openalex.org/W2030675185","https://openalex.org/W2103390361","https://openalex.org/W2420114289","https://openalex.org/W2778354676","https://openalex.org/W4406361347","https://openalex.org/W2024512481","https://openalex.org/W2409144079","https://openalex.org/W7056960929","https://openalex.org/W7137401535","https://openalex.org/W1990728503"],"abstract_inverted_index":null,"counts_by_year":[{"year":2023,"cited_by_count":2},{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":1},{"year":2018,"cited_by_count":2},{"year":2017,"cited_by_count":1},{"year":2014,"cited_by_count":1},{"year":2013,"cited_by_count":2},{"year":2012,"cited_by_count":4}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}