{"doi":"10.1007/bf00295676","title":"Maple syrup urine disease: Two different forms within a single family","abstract":null,"journal":"Human Genetics","year":1985,"id":602031,"datarank":0.20794415416798362,"base_score":1.3862943611198906,"endowment":1.3862943611198906,"self_citation_contribution":0.20794415416798362,"citation_network_contribution":0.0,"self_endowment_contribution":0.20794415416798362,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":3,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":null,"is_data_producer":false,"deposit_databanks":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":1543825,"name":"O. Am�d�e-Manesme","orcid":null,"position":1,"is_corresponding":false},{"id":1543826,"name":"G. Mitchell","orcid":null,"position":2,"is_corresponding":false},{"id":1543827,"name":"S. Heuertz","orcid":null,"position":3,"is_corresponding":false},{"id":79232,"name":"F. Rey","orcid":null,"position":4,"is_corresponding":false},{"id":1543828,"name":"J. Rey","orcid":null,"position":5,"is_corresponding":false},{"id":1543829,"name":"J. M. Saudubray","orcid":null,"position":6,"is_corresponding":false},{"id":1543824,"name":"J. Fr�zal","orcid":null,"position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"Maple syrup urine disease: Two different forms within a single family","abstract":"A family is reported in which the index case presented with an acute form of maple syrup urine disease (MSUD), whereas two of her sisters and her father were found to have an almost asymptomatic form of the disease. It is proposed that the members of this family are compound heterozygotes for the classical deficient mutant gene and for a \"variant\" allele.","is_dataset_classified":null,"base_score":1.3862943611198906,"endowment":1.3862943611198906,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"4029957","pmcid":null,"openalex_id":"https://openalex.org/W1992812017","authors":[],"funders":[],"total_grants":0,"fwci":0.6838,"citation_percentile":0.64199029,"influential_citations":0,"citation_trend":[{"year":2018,"count":1}],"oa_status":"closed","license":"http://www.springer.com/tdm","oa_locations":[{"url":"http://link.springer.com/content/pdf/10.1007/BF00295676.pdf","host_type":"publisher"},{"url":"http://link.springer.com/article/10.1007/BF00295676/fulltext.html","host_type":"publisher"},{"url":"http://link.springer.com/content/pdf/10.1007/BF00295676","host_type":"publisher"},{"url":"https://doi.org/10.1007/bf00295676","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/4029957","host_type":"repository"}],"fields_of_study":["Metabolism and Genetic Disorders","Amino Acid Enzymes and Metabolism","Porphyrin Metabolism and Disorders","Adolescent","Adult","Child","Decarboxylation","Female","Fibroblasts","Genetic Variation","Heterozygote","Humans","Leucine","Male","Maple Syrup Urine Disease","Pedigree"],"mesh_terms":["Adolescent","Adult","Child","Decarboxylation","Female","Fibroblasts","Heterozygote","Humans","Leucine","Male","Maple Syrup Urine Disease","Pedigree","Genetic Variation"],"keywords":["Maple syrup urine disease","Biology","Metabolic disease","Maple","Disease","Urine","Human genetics","Genetics","Botany","Internal medicine","Amino acid","Endocrinology","Gene"],"sdg_mappings":[{"sdg_number":0,"sdg_label":"Zero hunger"}],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[],"source":"live","citation_network_status":"fetched"},"created_at":"2026-07-29T18:06:18.311884Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}