{"@context":{"@vocab":"https://cir.nii.ac.jp/schema/1.0/","rdfs":"http://www.w3.org/2000/01/rdf-schema#","dc":"http://purl.org/dc/elements/1.1/","dcterms":"http://purl.org/dc/terms/","foaf":"http://xmlns.com/foaf/0.1/","prism":"http://prismstandard.org/namespaces/basic/2.0/","cinii":"http://ci.nii.ac.jp/ns/1.0/","datacite":"https://schema.datacite.org/meta/kernel-4/","ndl":"http://ndl.go.jp/dcndl/terms/","jpcoar":"https://github.com/JPCOAR/schema/blob/master/2.0/"},"@id":"https://cir.nii.ac.jp/crid/1362262943548202880.json","@type":"Article","productIdentifier":[{"identifier":{"@type":"DOI","@value":"10.1023/a:1024083715568"}},{"identifier":{"@type":"URI","@value":"https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1023%2FA%3A1024083715568"}},{"identifier":{"@type":"URI","@value":"https://onlinelibrary.wiley.com/doi/pdf/10.1023/A%3A1024083715568"}}],"dc:title":[{"@value":"3‐Hydroxy‐2‐methylbutyryl‐CoA dehydrogenase deficiency"}],"description":[{"type":"abstract","notation":[{"@value":"<jats:title>Abstract</jats:title><jats:p><jats:bold>Summary:</jats:bold> A boy now 8 years old presented at 21 months of age with developmental arrest, followed by regression, cortical blindness and myoclonic seizures. Urine organic acid analysis revealed 3‐hydroxy‐2‐methylbutyric acid and tiglyglycine; 3‐ketothiolase enzyme activity was normal and he was subsequently found to have 3‐hydroxy‐2‐methylbutyryl‐CoA dehydrogenase deficiency.</jats:p>"}]}],"creator":[{"@id":"https://cir.nii.ac.jp/crid/1380004233410527493","@type":"Researcher","foaf:name":[{"@value":"V. R. Sutton"}],"jpcoar:affiliationName":[{"@value":"Department of Molecular and Human Genetics  USA"}]},{"@id":"https://cir.nii.ac.jp/crid/1382262943548202881","@type":"Researcher","foaf:name":[{"@value":"W. E. O'Brien"}],"jpcoar:affiliationName":[{"@value":"Department of Molecular and Human Genetics  USA"}]},{"@id":"https://cir.nii.ac.jp/crid/1382262943548203010","@type":"Researcher","foaf:name":[{"@value":"G. D. Clark"}],"jpcoar:affiliationName":[{"@value":"Department of Neurology Baylor College of Medicine  Houston Texas"}]},{"@id":"https://cir.nii.ac.jp/crid/1382262943548202880","@type":"Researcher","foaf:name":[{"@value":"J. Kim"}],"jpcoar:affiliationName":[{"@value":"Neurology  Shreveport Louisiana USA"}]},{"@id":"https://cir.nii.ac.jp/crid/1382262943548203008","@type":"Researcher","foaf:name":[{"@value":"R. J. A. Wanders"}],"jpcoar:affiliationName":[{"@value":"Laboratory of Genetic Metabolic Diseases, Department of Pediatrics and Clinical Chemistry, Academic Centre University of Amsterdam  Amsterdam The Netherlands"}]}],"publication":{"publicationIdentifier":[{"@type":"PISSN","@value":"01418955"},{"@type":"EISSN","@value":"15732665"}],"prism:publicationName":[{"@value":"Journal of Inherited Metabolic Disease"}],"dc:publisher":[{"@value":"Wiley"}],"prism:publicationDate":"2003-07","prism:volume":"26","prism:number":"1","prism:startingPage":"69","prism:endingPage":"71"},"reviewed":"false","dc:rights":["http://onlinelibrary.wiley.com/termsAndConditions#vor"],"url":[{"@id":"https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1023%2FA%3A1024083715568"},{"@id":"https://onlinelibrary.wiley.com/doi/pdf/10.1023/A%3A1024083715568"}],"createdAt":"2003-09-12","modifiedAt":"2023-09-15","relatedProduct":[{"@id":"https://cir.nii.ac.jp/crid/1360004233410527616","@type":"Article","resourceType":"学術雑誌論文(journal article)","relationType":["isReferencedBy"],"jpcoar:relatedTitle":[{"@value":"The first case in Asia of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (HSD10 disease) with atypical presentation"}]},{"@id":"https://cir.nii.ac.jp/crid/1360285705357375360","@type":"Article","resourceType":"学術雑誌論文(journal article)","relationType":["isReferencedBy"],"jpcoar:relatedTitle":[{"@value":"Japanese Male Siblings with 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency (HSD10 Disease) Without Neurological Regression"}]},{"@id":"https://cir.nii.ac.jp/crid/1360846643283919744","@type":"Article","resourceType":"学術雑誌論文(journal article)","relationType":["isReferencedBy"],"jpcoar:relatedTitle":[{"@value":"Inborn errors of ketone body utilization"}]}],"dataSourceIdentifier":[{"@type":"CROSSREF","@value":"10.1023/a:1024083715568"},{"@type":"CROSSREF","@value":"10.1038/jhg.2014.79_references_DOI_Dl0pqhK6QCCCuxDJ34GrUA6r5B"},{"@type":"CROSSREF","@value":"10.1007/8904_2016_570_references_DOI_Dl0pqhK6QCCCuxDJ34GrUA6r5B"},{"@type":"CROSSREF","@value":"10.1111/ped.12585_references_DOI_Dl0pqhK6QCCCuxDJ34GrUA6r5B"}]}