{"id":"https://openalex.org/W2093355232","doi":"https://doi.org/10.1002/(sici)1097-0223(200001)20:1<33::aid-pd751>3.0.co;2-3","title":"Prenatal diagnosis in adenylosuccinate lyase deficiency","display_name":"Prenatal diagnosis in adenylosuccinate lyase deficiency","publication_year":2000,"publication_date":"2000-01-01","ids":{"openalex":"https://openalex.org/W2093355232","doi":"https://doi.org/10.1002/(sici)1097-0223(200001)20:1<33::aid-pd751>3.0.co;2-3","mag":"2093355232","pmid":"https://pubmed.ncbi.nlm.nih.gov/10701848"},"language":"en","primary_location":{"id":"doi:10.1002/(sici)1097-0223(200001)20:1<33::aid-pd751>3.0.co;2-3","doi":"https://doi.org/10.1002/(sici)1097-0223(200001)20:1<33::aid-pd751>3.0.co;2-3","is_oa":false,"landing_page_url":"https://doi.org/10.1002/(sici)1097-0223(200001)20:1<33::aid-pd751>3.0.co;2-3","pdf_url":null,"source":{"id":"https://openalex.org/S171405753","display_name":"Prenatal Diagnosis","issn_l":"0197-3851","issn":["0197-3851","1097-0223"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-1","vabb-shw"],"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":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Prenatal Diagnosis","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"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":"https://openalex.org/A5008435063","display_name":"Sandrine Marie","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210114657","display_name":"de Duve Institute","ror":"https://ror.org/022em3k58","country_code":"BE","type":"facility","lineage":["https://openalex.org/I4210114657"]},{"id":"https://openalex.org/I95674353","display_name":"UCLouvain","ror":"https://ror.org/02495e989","country_code":"BE","type":"education","lineage":["https://openalex.org/I95674353"]}],"countries":["BE"],"is_corresponding":false,"raw_author_name":"Sandrine Marie","raw_affiliation_strings":["Laboratory of Physiological Chemistry, Christian de Duve Institute of Cellular Pathology and University of Louvain Medical School, Brussels, Belgium"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratory of Physiological Chemistry, Christian de Duve Institute of Cellular Pathology and University of Louvain Medical School, Brussels, Belgium","institution_ids":["https://openalex.org/I4210114657","https://openalex.org/I95674353"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5090809331","display_name":"Jolanda W. A. M. Flipsen","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210162850","display_name":"Wilhelmina Children's Hospital","ror":"https://ror.org/05fqypv61","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I3018483916","https://openalex.org/I4210162850"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Jolanda W. A. M. Flipsen","raw_affiliation_strings":["Wilhelmina Children's Hospital, University Medical Centre, Utrecht, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Wilhelmina Children's Hospital, University Medical Centre, Utrecht, The Netherlands","institution_ids":["https://openalex.org/I4210162850"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113994826","display_name":"Marinus Dur\u00e1n","orcid":"https://orcid.org/0000-0002-6301-9732","observed_orcids":["https://orcid.org/0000-0002-6301-9732","https://orcid.org/0000-0002-3704-6390"]},"institutions":[{"id":"https://openalex.org/I4210162850","display_name":"Wilhelmina Children's Hospital","ror":"https://ror.org/05fqypv61","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I3018483916","https://openalex.org/I4210162850"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Marinus Duran","raw_affiliation_strings":["Wilhelmina Children's Hospital, University Medical Centre, Utrecht, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Wilhelmina Children's Hospital, University Medical Centre, Utrecht, The Netherlands","institution_ids":["https://openalex.org/I4210162850"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5086620509","display_name":"Bwee Tien Poll\u2010The","orcid":"https://orcid.org/0000-0002-8118-5419","observed_orcids":["https://orcid.org/0000-0002-8118-5419"]},"institutions":[{"id":"https://openalex.org/I4210162850","display_name":"Wilhelmina Children's Hospital","ror":"https://ror.org/05fqypv61","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I3018483916","https://openalex.org/I4210162850"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Bwee Tien Poll-The","raw_affiliation_strings":["Wilhelmina Children's Hospital, University Medical Centre, Utrecht, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Wilhelmina Children's Hospital, University Medical Centre, Utrecht, The Netherlands","institution_ids":["https://openalex.org/I4210162850"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110048518","display_name":"Frits A. Beemer","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210162850","display_name":"Wilhelmina Children's Hospital","ror":"https://ror.org/05fqypv61","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I3018483916","https://openalex.org/I4210162850"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Fritz A. Beemer","raw_affiliation_strings":["Wilhelmina Children's Hospital, University Medical Centre, Utrecht, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Wilhelmina Children's Hospital, University Medical Centre, Utrecht, The Netherlands","institution_ids":["https://openalex.org/I4210162850"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5019351827","display_name":"Aad N. Bosschaart","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2801766299","display_name":"Medisch Spectrum Twente","ror":"https://ror.org/033xvax87","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I2801766299"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Aad N. Bosschaart","raw_affiliation_strings":["Department of Pediatrics, Hospital Medisch Spectrum Twente, Enschede, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Hospital Medisch Spectrum Twente, Enschede, The Netherlands","institution_ids":["https://openalex.org/I2801766299"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109966758","display_name":"M. F. Vincent","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1315288073","display_name":"Cliniques Universitaires Saint-Luc","ror":"https://ror.org/03s4khd80","country_code":"BE","type":"healthcare","lineage":["https://openalex.org/I1315288073"]},{"id":"https://openalex.org/I4210114657","display_name":"de Duve Institute","ror":"https://ror.org/022em3k58","country_code":"BE","type":"facility","lineage":["https://openalex.org/I4210114657"]},{"id":"https://openalex.org/I95674353","display_name":"UCLouvain","ror":"https://ror.org/02495e989","country_code":"BE","type":"education","lineage":["https://openalex.org/I95674353"]}],"countries":["BE"],"is_corresponding":false,"raw_author_name":"M. Fran\ufffdoise Vincent","raw_affiliation_strings":["Laboratory of Metabolic Diseases, Department of Clinical Biochemistry, University Hospital St-Luc, Brussels, Belgium","Laboratory of Physiological Chemistry, Christian de Duve Institute of Cellular Pathology and University of Louvain Medical School, Brussels, Belgium"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratory of Metabolic Diseases, Department of Clinical Biochemistry, University Hospital St-Luc, Brussels, Belgium","institution_ids":["https://openalex.org/I1315288073"]},{"raw_affiliation_string":"Laboratory of Physiological Chemistry, Christian de Duve Institute of Cellular Pathology and University of Louvain Medical School, Brussels, Belgium","institution_ids":["https://openalex.org/I4210114657","https://openalex.org/I95674353"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5105934715","display_name":"Georges Van den Berghe","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210114657","display_name":"de Duve Institute","ror":"https://ror.org/022em3k58","country_code":"BE","type":"facility","lineage":["https://openalex.org/I4210114657"]},{"id":"https://openalex.org/I95674353","display_name":"UCLouvain","ror":"https://ror.org/02495e989","country_code":"BE","type":"education","lineage":["https://openalex.org/I95674353"]}],"countries":["BE"],"is_corresponding":true,"raw_author_name":"Georges Van den Berghe","raw_affiliation_strings":["Laboratory of Physiological Chemistry, Christian de Duve Institute of Cellular Pathology and University of Louvain Medical School, Brussels, Belgium"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratory of Physiological Chemistry, Christian de Duve Institute of Cellular Pathology and University of Louvain Medical School, Brussels, Belgium","institution_ids":["https://openalex.org/I4210114657","https://openalex.org/I95674353"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":5,"corresponding_author_ids":["https://openalex.org/A5105934715"],"corresponding_institution_ids":["https://openalex.org/I4210114657","https://openalex.org/I95674353"],"apc_list":{"value":4640,"currency":"USD","value_usd":4640},"apc_paid":null,"fwci":0.7272,"has_fulltext":false,"cited_by_count":24,"citation_normalized_percentile":{"value":0.66821809,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":96},"biblio":{"volume":"20","issue":"1","first_page":"33","last_page":"36"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.8012999892234802,"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":0.8012999892234802,"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/T12827","display_name":"Biochemical and Molecular Research","score":0.1354999989271164,"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"}},{"id":"https://openalex.org/T10978","display_name":"Prenatal Screening and Diagnostics","score":0.032999999821186066,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/adenylosuccinate-lyase-deficiency","display_name":"adenylosuccinate lyase deficiency","score":0.9990000128746033},{"id":"https://openalex.org/keywords/chorionic-villus-sampling","display_name":"chorionic villus sampling","score":0.906000018119812},{"id":"https://openalex.org/keywords/mutation-analysis","display_name":"mutation analysis","score":0.4259999990463257},{"id":"https://openalex.org/keywords/psychomotor-retardation","display_name":"psychomotor retardation","score":0.9459999799728394},{"id":"https://openalex.org/keywords/epilepsy","display_name":"epilepsy","score":0.7960000038146973},{"id":"https://openalex.org/keywords/autism-spectrum-disorder","display_name":"autism spectrum disorder","score":0.46399998664855957},{"id":"https://openalex.org/keywords/autosomal-recessive-inheritance","display_name":"autosomal recessive inheritance","score":0.8019999861717224}],"concepts":[{"id":"https://openalex.org/C36823959","wikidata":"https://www.wikidata.org/wiki/Q373027","display_name":"Exon","level":3,"score":0.7462392449378967},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6454835534095764},{"id":"https://openalex.org/C172680121","wikidata":"https://www.wikidata.org/wiki/Q26513","display_name":"Fetus","level":3,"score":0.6405080556869507},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.5219408869743347},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.4791504740715027},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.453184574842453},{"id":"https://openalex.org/C2776202747","wikidata":"https://www.wikidata.org/wiki/Q3064951","display_name":"Psychomotor retardation","level":3,"score":0.44502967596054077},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.3501785099506378},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.32809603214263916},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.2614276111125946},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.19724580645561218},{"id":"https://openalex.org/C2779234561","wikidata":"https://www.wikidata.org/wiki/Q11995","display_name":"Pregnancy","level":2,"score":0.1622384488582611},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.07545992732048035},{"id":"https://openalex.org/C204787440","wikidata":"https://www.wikidata.org/wiki/Q188504","display_name":"Alternative medicine","level":2,"score":0.0}],"mesh":[{"descriptor_ui":"D000028","descriptor_name":"Abortion, Induced","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000264","descriptor_name":"Adenylosuccinate Lyase","qualifier_ui":"Q000172","qualifier_name":"deficiency","is_major_topic":true},{"descriptor_ui":"D000264","descriptor_name":"Adenylosuccinate Lyase","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D000653","descriptor_name":"Amniotic Fluid","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":false},{"descriptor_ui":"D002478","descriptor_name":"Cells, Cultured","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002851","descriptor_name":"Chromatography, High Pressure Liquid","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004247","descriptor_name":"DNA","qualifier_ui":"Q000032","qualifier_name":"analysis","is_major_topic":false},{"descriptor_ui":"D004247","descriptor_name":"DNA","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005347","descriptor_name":"Fibroblasts","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008099","descriptor_name":"Liver","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011247","descriptor_name":"Pregnancy","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011296","descriptor_name":"Prenatal Diagnosis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D011687","descriptor_name":"Purines","qualifier_ui":"Q000032","qualifier_name":"analysis","is_major_topic":false},{"descriptor_ui":"D011687","descriptor_name":"Purines","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D015193","descriptor_name":"Chorionic Villi Sampling","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015252","descriptor_name":"Deoxyribonucleases, Type II Site-Specific","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D016133","descriptor_name":"Polymerase Chain Reaction","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":5,"locations":[{"id":"doi:10.1002/(sici)1097-0223(200001)20:1<33::aid-pd751>3.0.co;2-3","doi":"https://doi.org/10.1002/(sici)1097-0223(200001)20:1<33::aid-pd751>3.0.co;2-3","is_oa":false,"landing_page_url":"https://doi.org/10.1002/(sici)1097-0223(200001)20:1<33::aid-pd751>3.0.co;2-3","pdf_url":null,"source":{"id":"https://openalex.org/S171405753","display_name":"Prenatal Diagnosis","issn_l":"0197-3851","issn":["0197-3851","1097-0223"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-1","vabb-shw"],"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":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Prenatal Diagnosis","raw_type":"journal-article"},{"id":"pmid:10701848","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/10701848","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":"Prenatal diagnosis","raw_type":"Journal Article"},{"id":"pmh:oai:pure.amsterdamumc.nl:openaire_cris_publications/866b02ad-35c6-4cff-b9dd-ca766e31174a","doi":null,"is_oa":false,"landing_page_url":"https://pure.amsterdamumc.nl/en/publications/866b02ad-35c6-4cff-b9dd-ca766e31174a","pdf_url":null,"source":{"id":"https://openalex.org/S7407055222","display_name":"Pure Amsterdam UMC","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Marie, S, Flipsen, J W, Duran, M, Poll-The, B T, Beemer, F A, Bosschaart, A N, Vincent, M F & van den Berghe, G 2000, 'Prenatal diagnosis in adenylosuccinate lyase deficiency', Prenatal diagnosis, vol. 20, no. 1, pp. 33-36. https://doi.org/10.1002/(SICI)1097-0223(200001)20:1","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:amcpub:oai:pure.amc.nl:publications/f2caef39-9b98-496f-9e66-159e2ecc2b4d","doi":null,"is_oa":false,"landing_page_url":"https://pure.amc.nl/en/publications/prenatal-diagnosis-in-adenylosuccinate-lyase-deficiency(f2caef39-9b98-496f-9e66-159e2ecc2b4d).html","pdf_url":null,"source":{"id":"https://openalex.org/S4306401843","display_name":"Data Archiving and Networked Services (DANS)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1322597698","host_organization_name":"Royal Netherlands Academy of Arts and Sciences","host_organization_lineage":["https://openalex.org/I1322597698"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Prenatal diagnosis, 20(1), 33 - 36. John Wiley and Sons Ltd","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:dial.uclouvain.be:boreal:26771","doi":null,"is_oa":false,"landing_page_url":"http://hdl.handle.net/2078.1/26771","pdf_url":null,"source":{"id":"https://openalex.org/S4306400166","display_name":"Digital Access to Libraries","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I2800384882","host_organization_name":"Harris County Public Library","host_organization_lineage":["https://openalex.org/I2800384882"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Prenatal diagnosis, Vol. 20, no. 1, p. 33-6 (2000)","raw_type":"info:eu-repo/semantics/article"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.9763000011444092,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":14,"referenced_works":["https://openalex.org/W1556420131","https://openalex.org/W1805798495","https://openalex.org/W1963992982","https://openalex.org/W1997873485","https://openalex.org/W2021835325","https://openalex.org/W2024193248","https://openalex.org/W2028690554","https://openalex.org/W2056729408","https://openalex.org/W2075985516","https://openalex.org/W2080946496","https://openalex.org/W2106647972","https://openalex.org/W2157203767","https://openalex.org/W2206673445","https://openalex.org/W3209992856"],"related_works":["https://openalex.org/W7126211339","https://openalex.org/W2033463709","https://openalex.org/W2086224399","https://openalex.org/W3124713783","https://openalex.org/W1991628979","https://openalex.org/W2172087298","https://openalex.org/W1995679486","https://openalex.org/W2065752482","https://openalex.org/W2000120778","https://openalex.org/W2056155330"],"abstract_inverted_index":{"Adenylosuccinate":[0],"lyase":[1,181],"deficiency,":[2],"an":[3],"autosomal":[4],"recessive":[5],"inborn":[6],"error":[7],"of":[8,16,24,28,63,66,102,109,143,146,179],"purine":[9],"synthesis,":[10],"provokes":[11],"accumulation":[12],"in":[13],"body":[14],"fluids":[15],"succinylaminoimidazolecarboxamide":[17],"riboside":[18],"and":[19,81,122,126,131,140,159,163,167,176],"succinyladenosine,":[20],"the":[21,25,29,64,78,88,123,136,160,172,183,188,196],"dephosphorylated":[22],"derivatives":[23],"two":[26],"substrates":[27],"enzyme.":[30],"Most":[31],"patients":[32],"display":[33],"severe":[34],"psychomotor":[35],"retardation,":[36],"often":[37],"accompanied":[38],"by":[39],"epilepsy":[40],"and/or":[41],"autistic":[42],"features,":[43],"although":[44],"some":[45],"are":[46,53],"only":[47,195],"mildly":[48],"retarded.":[49],"About":[50],"20":[51],"mutations":[52],"known.":[54],"Prenatal":[55],"diagnosis":[56],"was":[57],"performed":[58],"twice":[59],"on":[60,77,87,182],"chorion":[61],"villi":[62],"mother":[65],"a":[67,72,82,93,98,115,120,128,152,157,164],"previously":[68],"diagnosed":[69],"patient":[70],"with":[71,112,149],"C5T":[73],"mutation":[74,84],"(exon":[75,85],"1)":[76],"maternal":[79,197],"allele,":[80],"C1185A":[83],"11)":[86],"paternal":[89],"allele.":[90],"Both":[91],"suppress":[92],"Fnu4HI":[94,113,150],"restriction":[95],"site.":[96],"In":[97],"first":[99],"fetus,":[100],"incubation":[101],"PCR":[103,144],"products":[104,145],"generated":[105],"from":[106,119,135,156,171],"genomic":[107],"DNA":[108],"exon":[110],"1":[111],"yielded":[114,151],"113":[116,129],"bp":[117,130,133,154,166,169],"fragment":[118,134,155,170],"control":[121,158],"father's":[124],"gene,":[125,162],"both":[127],"170":[132],"mother,":[137],"affected":[138,174],"sibling":[139,175],"fetus.":[141,177],"Incubation":[142],"exons":[147],"11-12":[148],"550":[153,165],"mother's":[161],"600":[168],"father,":[173],"Assay":[178],"adenylosuccinate":[180],"aborted":[184],"fetal":[185],"liver":[186],"confirmed":[187],"enzyme":[189],"deficiency.":[190],"A":[191],"second":[192],"fetus":[193],"displayed":[194],"mutation.":[198]},"counts_by_year":[{"year":2026,"cited_by_count":2},{"year":2023,"cited_by_count":1},{"year":2022,"cited_by_count":2},{"year":2021,"cited_by_count":2},{"year":2020,"cited_by_count":1},{"year":2019,"cited_by_count":1},{"year":2016,"cited_by_count":1},{"year":2014,"cited_by_count":2},{"year":2013,"cited_by_count":1}],"updated_date":"2026-11-07T11:25:07.637180","created_date":"2016-06-24T00:00:00"}