{"id":"https://openalex.org/W34917857","doi":null,"title":"[Maple syrup urine disease caused by two novel BCKDHB gene mutations in a Chinese neonate].","display_name":"[Maple syrup urine disease caused by two novel BCKDHB gene mutations in a Chinese neonate].","publication_year":2015,"publication_date":"2015-01-01","ids":{"openalex":"https://openalex.org/W34917857","mag":"34917857","pmid":"https://pubmed.ncbi.nlm.nih.gov/25748408"},"language":"zh","primary_location":{"id":"pmid:25748408","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/25748408","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":"Zhonghua er ke za zhi = Chinese journal of pediatrics","raw_type":"Case Reports"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["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/A5109592488","display_name":"Yunlin Shen","orcid":"https://orcid.org/0000-0002-0474-9831","observed_orcids":["https://orcid.org/0000-0002-0474-9831"]},"institutions":[{"id":"https://openalex.org/I183067930","display_name":"Shanghai Jiao Tong University","ror":"https://ror.org/0220qvk04","country_code":"CN","type":"education","lineage":["https://openalex.org/I183067930"]},{"id":"https://openalex.org/I4210159420","display_name":"Shanghai Children's Hospital","ror":"https://ror.org/05pea1m70","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210159420"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Yunlin Shen","raw_affiliation_strings":["Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai 200040, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai 200040, China","institution_ids":["https://openalex.org/I183067930","https://openalex.org/I4210159420"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5027721461","display_name":"Xiaohui Gong","orcid":"https://orcid.org/0000-0001-7956-8608","observed_orcids":["https://orcid.org/0000-0001-7956-8608"]},"institutions":[{"id":"https://openalex.org/I183067930","display_name":"Shanghai Jiao Tong University","ror":"https://ror.org/0220qvk04","country_code":"CN","type":"education","lineage":["https://openalex.org/I183067930"]},{"id":"https://openalex.org/I4210159420","display_name":"Shanghai Children's Hospital","ror":"https://ror.org/05pea1m70","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210159420"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Xiaohui Gong","raw_affiliation_strings":["Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai 200040, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai 200040, China","institution_ids":["https://openalex.org/I183067930","https://openalex.org/I4210159420"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5003264965","display_name":"Jingbin Yan","orcid":"https://orcid.org/0000-0003-3398-2322","observed_orcids":["https://orcid.org/0000-0003-3398-2322"]},"institutions":[{"id":"https://openalex.org/I183067930","display_name":"Shanghai Jiao Tong University","ror":"https://ror.org/0220qvk04","country_code":"CN","type":"education","lineage":["https://openalex.org/I183067930"]},{"id":"https://openalex.org/I4210159420","display_name":"Shanghai Children's Hospital","ror":"https://ror.org/05pea1m70","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210159420"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Jingbin Yan","raw_affiliation_strings":["Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai 200040, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai 200040, China","institution_ids":["https://openalex.org/I183067930","https://openalex.org/I4210159420"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100734208","display_name":"Li Qin","orcid":"https://orcid.org/0000-0003-0099-4992","observed_orcids":["https://orcid.org/0000-0003-0099-4992"]},"institutions":[{"id":"https://openalex.org/I183067930","display_name":"Shanghai Jiao Tong University","ror":"https://ror.org/0220qvk04","country_code":"CN","type":"education","lineage":["https://openalex.org/I183067930"]},{"id":"https://openalex.org/I4210159420","display_name":"Shanghai Children's Hospital","ror":"https://ror.org/05pea1m70","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210159420"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Li Qin","raw_affiliation_strings":["Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai 200040, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai 200040, China","institution_ids":["https://openalex.org/I183067930","https://openalex.org/I4210159420"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5078408795","display_name":"Gang Qiu","orcid":"https://orcid.org/0000-0001-6626-1404","observed_orcids":["https://orcid.org/0000-0001-6626-1404"]},"institutions":[{"id":"https://openalex.org/I183067930","display_name":"Shanghai Jiao Tong University","ror":"https://ror.org/0220qvk04","country_code":"CN","type":"education","lineage":["https://openalex.org/I183067930"]},{"id":"https://openalex.org/I4210159420","display_name":"Shanghai Children's Hospital","ror":"https://ror.org/05pea1m70","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210159420"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Gang Qiu","raw_affiliation_strings":["Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai 200040, China. Email: qiugang214@hotmail.com"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai 200040, China. Email: qiugang214@hotmail.com","institution_ids":["https://openalex.org/I183067930","https://openalex.org/I4210159420"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.2313,"has_fulltext":false,"cited_by_count":2,"citation_normalized_percentile":{"value":0.47845304,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":93},"biblio":{"volume":"53","issue":"1","first_page":"66","last_page":"70"},"is_retracted":false,"is_paratext":false,"is_xpac":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/T12770","display_name":"Amino Acid Enzymes and Metabolism","score":0.0,"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"}},{"id":"https://openalex.org/T12915","display_name":"Biochemical Acid Research Studies","score":0.0,"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/maple-syrup-urine-disease","display_name":"maple syrup urine disease","score":0.9990000128746033},{"id":"https://openalex.org/keywords/branched-chain-alpha-keto-acid-dehydrogenase","display_name":"branched-chain ketoacid dehydrogenase","score":0.8309999704360962},{"id":"https://openalex.org/keywords/novel-missense-mutation","display_name":"novel missense mutation","score":0.9129999876022339},{"id":"https://openalex.org/keywords/metabolic-acidosis","display_name":"metabolic acidosis","score":0.6290000081062317},{"id":"https://openalex.org/keywords/white-matter-changes","display_name":"white matter changes","score":0.7770000100135803},{"id":"https://openalex.org/keywords/protein-structure-prediction","display_name":"protein structure prediction","score":0.503000020980835},{"id":"https://openalex.org/keywords/autosomal-recessive-inborn-error-of-metabolism","display_name":"autosomal recessive inborn error of metabolism","score":0.7879999876022339}],"concepts":[{"id":"https://openalex.org/C2779214519","wikidata":"https://www.wikidata.org/wiki/Q402575","display_name":"Maple syrup urine disease","level":4,"score":0.9552642107009888},{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.7047597169876099},{"id":"https://openalex.org/C2777573094","wikidata":"https://www.wikidata.org/wiki/Q483752","display_name":"Valine","level":3,"score":0.6099197268486023},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5420591831207275},{"id":"https://openalex.org/C36823959","wikidata":"https://www.wikidata.org/wiki/Q373027","display_name":"Exon","level":3,"score":0.495190292596817},{"id":"https://openalex.org/C188997412","wikidata":"https://www.wikidata.org/wiki/Q1640386","display_name":"Proband","level":4,"score":0.4929044246673584},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.4907287359237671},{"id":"https://openalex.org/C76818968","wikidata":"https://www.wikidata.org/wiki/Q181940","display_name":"Sanger sequencing","level":4,"score":0.4760829508304596},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.4401226043701172},{"id":"https://openalex.org/C2776580952","wikidata":"https://www.wikidata.org/wiki/Q483745","display_name":"Leucine","level":3,"score":0.41371145844459534},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.40308743715286255},{"id":"https://openalex.org/C515207424","wikidata":"https://www.wikidata.org/wiki/Q8066","display_name":"Amino acid","level":2,"score":0.37846606969833374},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.33071666955947876}],"mesh":[{"descriptor_ui":"D000483","descriptor_name":"Alleles","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001483","descriptor_name":"Base Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004247","descriptor_name":"DNA","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005091","descriptor_name":"Exons","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007223","descriptor_name":"Infant","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":"D008375","descriptor_name":"Maple Syrup Urine Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D008401","descriptor_name":"Gas Chromatography-Mass Spectrometry","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020125","descriptor_name":"Mutation, Missense","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D042942","descriptor_name":"3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D044466","descriptor_name":"Asian People","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D053719","descriptor_name":"Tandem Mass Spectrometry","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"pmid:25748408","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/25748408","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":"Zhonghua er ke za zhi = Chinese journal of pediatrics","raw_type":"Case Reports"},{"id":"mag:34917857","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/25748408","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":null,"is_accepted":false,"is_published":false,"raw_source_name":"PubMed","raw_type":null}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.9537000060081482,"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":1,"referenced_works":["https://openalex.org/W2403943438"],"related_works":["https://openalex.org/W2781757213","https://openalex.org/W3175869390","https://openalex.org/W2033862881","https://openalex.org/W2335044500","https://openalex.org/W2781725579","https://openalex.org/W4403112277","https://openalex.org/W2496290260","https://openalex.org/W3012251252","https://openalex.org/W3024456843","https://openalex.org/W4362672234"],"abstract_inverted_index":{"OBJECTIVE:":[0],"Maple":[1],"syrup":[2],"urine":[3],"disease":[4],"(MSUD)":[5],"is":[6,13],"an":[7],"autosomal":[8],"recessive":[9],"metabolic":[10,115],"disorder":[11],"that":[12,122,169,242],"caused":[14,44],"by":[15,45],"mutations":[16,49,151,260],"in":[17,50,152,163,189,263,267],"the":[18,21,38,51,72,87,91,94,153,170,178,190,206,217,221,243,264,268],"subunits":[19],"of":[20,42,60,67,75,90,105,193,220,229],"branched":[22],"chain":[23],"\u03b1-ketoacid":[24],"dehydrogenase":[25],"(BCKD)":[26],"complex.":[27],"This":[28],"report":[29],"presents":[30],"a":[31,61],"Han":[32,196],"ethnic":[33,197],"Chinese":[34,62,198,269],"newborn":[35],"infant":[36],"with":[37,64,99,271],"severe":[39],"classic":[40,65],"form":[41,66],"MSUD":[43,68],"two":[46,148],"novel":[47,171,179,258],"missense":[48,259],"BCKDHB":[52,154,202,231,265],"gene.":[53],"METHOD:":[54],"The":[55,103,223],"clinical":[56],"and":[57,71,79,93,113,124,159,177,208,225,245],"biochemical":[58],"data":[59],"neonate":[63],"were":[69,82,97,108,126,250,261],"analyzed,":[70],"DNA":[73,88],"sequences":[74],"BCKDHA,":[76],"BCKDHB,":[77],"DBT":[78],"DLD":[80],"genes":[81],"investigated":[83],"for":[84],"mutations.":[85],"Then":[86],"samples":[89],"proband":[92],"patient's":[95],"parents":[96],"tested":[98],"Sanger":[100],"sequencing.":[101],"RESULT:":[102],"manifestations":[104],"this":[106],"patient":[107,270],"poor":[109],"feeding,":[110],"low":[111],"reaction,":[112],"compensatory":[114],"acidosis.":[116],"Tandem":[117],"mass":[118],"spectrometry":[119,134],"(MS/MS)":[120],"showed":[121,136,142,168],"leucine":[123],"valine":[125],"significantly":[127],"higher":[128],"than":[129],"normal.":[130],"Urine":[131],"gas":[132],"chromatography-mass":[133],"(GC/MS)":[135],"significant":[137],"abnormality.":[138],"Brain":[139],"CT":[140],"scan":[141],"white":[143],"matter":[144],"changes.":[145],"We":[146],"identified":[147,262],"previously":[149],"unreported":[150],"gene,":[155],"p.Leu194Phe":[156,181],"(c.580":[157],"C>T)":[158],"p.Ser199Arg":[160,173],"(c.597":[161],"T>G)":[162],"exon":[164],"5.":[165],"Segregation":[166],"analysis":[167],"mutation":[172,180,186],"was":[174,182,187,233],"maternally":[175],"inherited":[176],"paternally":[183],"inherited.":[184],"Neither":[185],"found":[188],"186":[191],"alleles":[192],"93":[194],"normal":[195],"individuals.":[199],"In":[200],"human":[201,230],"protein":[203,232,238,254],"crystal":[204],"structure,":[205],"194th":[207,224,244],"199th":[209,226,246],"amino":[210,227,247],"acids":[211],"changes":[212,249],"are":[213],"likely":[214,251],"to":[215,252],"affect":[216,253],"spatial":[218],"structure":[219],"protein.":[222],"acid":[228,248],"conserved":[234],"among":[235],"species.":[236],"PolyPhen":[237],"function":[239],"prediction":[240],"indicated":[241],"function.":[255],"CONCLUSION:":[256],"Two":[257],"gene":[266],"MSUD.":[272]},"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2017,"cited_by_count":1}],"updated_date":"2026-11-10T11:39:43.021295","created_date":"2016-06-24T00:00:00"}