{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,5]],"date-time":"2026-06-05T08:20:37Z","timestamp":1780647637933,"version":"3.54.1"},"reference-count":35,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[1987,10,1]],"date-time":"1987-10-01T00:00:00Z","timestamp":560044800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The Journal of Pediatrics"],"published-print":{"date-parts":[[1987,10]]},"DOI":"10.1016\/s0022-3476(87)80112-9","type":"journal-article","created":{"date-parts":[[2006,9,28]],"date-time":"2006-09-28T12:34:29Z","timestamp":1159446869000},"page":"525-533","source":"Crossref","is-referenced-by-count":158,"title":["Variable clinical presentation in patients with defective E1 component of pyruvate dehydrogenase complex"],"prefix":"10.1016","volume":"111","author":[{"given":"Brian H.","family":"Robinson","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Harriet","family":"MacMillan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roumyana","family":"Petrova-Benedict","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"W. Geoffrey","family":"Sherwood","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/S0022-3476(87)80112-9_bib1","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1016\/0003-9861(72)90152-X","article-title":"\u03b1-Keto acid dehydrogenase complexes. XVI. Studies in the subunit structure of the complexes from bovine kidney and heart","volume":"148","author":"Barrera","year":"1972","journal-title":"Arch Biochem Biophys"},{"key":"10.1016\/S0022-3476(87)80112-9_bib2","first-page":"47","article-title":"Regulation of pyruvate oxidation and the conservation of glucose","volume":"43","author":"Randle","year":"1978","journal-title":"Biochem Soc Symp"},{"key":"10.1016\/S0022-3476(87)80112-9_bib3","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1073\/pnas.64.1.227","article-title":"Keto acid dehydrogenase complexes. XI. Comparative studies of regulatory properties of the pyruvate dehydrogenase complexes from kidney heart and liver mitochondria","volume":"64","author":"Linn","year":"1969","journal-title":"Proc Nat Acad Sci USA"},{"key":"10.1016\/S0022-3476(87)80112-9_bib4","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1016\/0014-5793(69)80156-0","article-title":"ATP-dependent inactivation of heart muscle pyruvate dehydrogenase and reactivation of Mg++","volume":"3","author":"Wieland","year":"1972","journal-title":"FEBS Lett"},{"key":"10.1016\/S0022-3476(87)80112-9_bib5","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1016\/S0006-291X(75)80185-9","article-title":"Regulation of pyruvate dehydrogenase kinase and phosphatase by acetyl-CoA\/CoA and NADH\/NAD ratios","volume":"65","author":"Pettit","year":"1975","journal-title":"Biochem Biophys Res Commun"},{"key":"10.1016\/S0022-3476(87)80112-9_bib6","series-title":"The metabolic basis of inherited diseases","first-page":"193","article-title":"Inborn errors of pyruvate metabolism","author":"Blass","year":"1983"},{"key":"10.1016\/S0022-3476(87)80112-9_bib7","doi-asserted-by":"crossref","first-page":"956","DOI":"10.1203\/00006450-198008000-00013","article-title":"The genetic heterogeneity of lactic acidosis: occurrence of recognisable inborn errors of metabolism in a pediatric population with lacticacidosis","volume":"14","author":"Robinson","year":"1980","journal-title":"Pediatr Res"},{"key":"10.1016\/S0022-3476(87)80112-9_bib8","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1007\/BF00441736","article-title":"Robinson B. Three cases of lactic acidemia due to pyruvate decarboxylase (E1) deficiency with evidence of protein polymorphism in the \u03b1 subunit of the enzyme","volume":"144","author":"McKay","year":"1986","journal-title":"Eur J Pediatr"},{"key":"10.1016\/S0022-3476(87)80112-9_bib9","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1007\/BF03047378","article-title":"Lactic acidemia","volume":"7","author":"Robinson","year":"1984","journal-title":"J Inher Metab Dis"},{"key":"10.1016\/S0022-3476(87)80112-9_bib10","doi-asserted-by":"crossref","first-page":"1463","DOI":"10.1172\/JCI110176","article-title":"Pyruvate dehydrogenase complex activity in normal and deficient fibroblasts","volume":"67","author":"Sheu","year":"1981","journal-title":"J Clin Invest"},{"key":"10.1016\/S0022-3476(87)80112-9_bib11","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1007\/BF01799447","article-title":"Disorders of the pyruvate dehydrogenase complex","volume":"9","author":"Stansbie","year":"1986","journal-title":"J Inher Metab Dis"},{"key":"10.1016\/S0022-3476(87)80112-9_bib12","doi-asserted-by":"crossref","first-page":"140","DOI":"10.1111\/j.1651-2227.1985.tb10937.x","article-title":"Fatel case of pyruvate dehydrogenase deficiency","volume":"74","author":"Matsuo","year":"1985","journal-title":"Acta Paediatr Scand"},{"key":"10.1016\/S0022-3476(87)80112-9_bib13","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1007\/BF01969575","article-title":"Thiamine dependency in a patient with congenital lactic acidemia due to pyruvate dehydrogenase deficiency","volume":"7","author":"Wick","year":"1977","journal-title":"Agents Actions"},{"key":"10.1016\/S0022-3476(87)80112-9_bib14","doi-asserted-by":"crossref","first-page":"1082","DOI":"10.1126\/science.803713","article-title":"Absence of pyruvate decarboxylase activity in man: a cause of congenital lactic acidosis","volume":"187","author":"Farrell","year":"1975","journal-title":"Science"},{"key":"10.1016\/S0022-3476(87)80112-9_bib15","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1203\/00006450-197601000-00012","article-title":"Fatal lactic acidosis in newborn attributable to a congenital defect of pyruvate dehydrogenase","volume":"10","author":"Stromme","year":"1976","journal-title":"Pediatr Res"},{"key":"10.1016\/S0022-3476(87)80112-9_bib16","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1042\/bj2390089","article-title":"Immunochemical analysis of normal and mutant forms of human pyruvate dehydrogenase","volume":"239","author":"Wicking","year":"1986","journal-title":"Biochem J"},{"key":"10.1016\/S0022-3476(87)80112-9_bib17","first-page":"253","article-title":"Chronic lactic acidosis in an infant","volume":"35","author":"Papanastasiou","year":"1980","journal-title":"Helv Paediatr Acta"},{"key":"10.1016\/S0022-3476(87)80112-9_bib18","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1620\/tjem.137.379","article-title":"Pyruvate decarboxylase deficiency in a patient with Leigh's encephalomyopathy","volume":"137","author":"Ohtake","year":"1982","journal-title":"Tohoko J Exp Med"},{"key":"10.1016\/S0022-3476(87)80112-9_bib19","doi-asserted-by":"crossref","first-page":"278","DOI":"10.1007\/BF00442301","article-title":"Biochemical studies in 28 children with lactic acidosis in relation to Leigh's encephalomyelopathy","volume":"143","author":"Miyabayashi","year":"1985","journal-title":"Eur J Pediatr"},{"key":"10.1016\/S0022-3476(87)80112-9_bib20","doi-asserted-by":"crossref","first-page":"844","DOI":"10.1172\/JCI112651","article-title":"Deficiency of the pyruvate dehydrogenase component in pyruvate dehydrogenase deficient human fibroblasts: immunological identification","volume":"78","author":"Ho","year":"1986","journal-title":"J Clin Invest"},{"key":"10.1016\/S0022-3476(87)80112-9_bib21","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1111\/j.1651-2227.1982.tb09412.x","article-title":"Studies on pyruvate carboxylase, pyruvate decarboxylase and lipoamide dehydrogenase in subacute necrotising encephalomyelopathy","volume":"71","author":"Hansen","year":"1982","journal-title":"Acta Paediatr Scand"},{"key":"10.1016\/S0022-3476(87)80112-9_bib22","doi-asserted-by":"crossref","first-page":"430","DOI":"10.1203\/00006450-198206000-00006","article-title":"Enzymologic studies and therapy of Leigh's disease associated with pyruvate decarboxylase deficiency","volume":"16","author":"Toshima","year":"1982","journal-title":"Pediatr Res"},{"key":"10.1016\/S0022-3476(87)80112-9_bib23","doi-asserted-by":"crossref","first-page":"515","DOI":"10.1001\/archneur.1981.00510080077012","article-title":"Pyruvate decarboxylase deficiency in subacute necrotising encephalomyelopathy","volume":"38","author":"Evans","year":"1981","journal-title":"Arch Neurol"},{"key":"10.1016\/S0022-3476(87)80112-9_bib24","doi-asserted-by":"crossref","first-page":"713","DOI":"10.1203\/00006450-197608000-00002","article-title":"Sensitivity to carbohydrate in a patient with familial intermittent lactic acidosis and pyruvate dehydrogenase deficiency","volume":"10","author":"Cederbaum","year":"1976","journal-title":"Pediatr Res"},{"key":"10.1016\/S0022-3476(87)80112-9_bib25","doi-asserted-by":"crossref","first-page":"1845","DOI":"10.1172\/JCI106986","article-title":"An inherited defect affecting the tricarboxylic acid cycle in a patient with congenital lacti acidosis","volume":"51","author":"Blass","year":"1972","journal-title":"J Clin Invest"},{"key":"10.1016\/S0022-3476(87)80112-9_bib26","doi-asserted-by":"crossref","first-page":"713","DOI":"10.1542\/peds.58.5.713","article-title":"Ketonic diet in the management of pyruvate dehydrogenase deficiency","volume":"58","author":"Balk","year":"1976","journal-title":"Pediatrics"},{"key":"10.1016\/S0022-3476(87)80112-9_bib27","doi-asserted-by":"crossref","first-page":"449","DOI":"10.1001\/archneur.1971.00490050083007","article-title":"Clinical studies of a patient with pyruvate decarboxylase deficiency","volume":"25","author":"Blass","year":"1971","journal-title":"Arch Neurol"},{"key":"10.1016\/S0022-3476(87)80112-9_bib28","doi-asserted-by":"crossref","first-page":"961","DOI":"10.1016\/S0022-3476(84)80090-6","article-title":"Episodic weakness in pyruvate decarboxylase deficiency","volume":"105","author":"Evans","year":"1984","journal-title":"J Pediatr"},{"key":"10.1016\/S0022-3476(87)80112-9_bib29","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1016\/S0387-7604(83)80043-6","article-title":"The effect of high fat diet on pyruvate decarboxylase deficiency without involvement of the central nervous system","volume":"5","author":"Kodama","year":"1983","journal-title":"Brain Dev"},{"key":"10.1016\/S0022-3476(87)80112-9_bib30","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1042\/bj1310031","article-title":"Kinetic properties of partially purified pyruvate dehydrogenase complex of ox brain","volume":"131","author":"Blass","year":"1978","journal-title":"Biochem J"},{"key":"10.1016\/S0022-3476(87)80112-9_bib31","doi-asserted-by":"crossref","first-page":"625","DOI":"10.1212\/WNL.26.7.625","article-title":"A possible mechanism for selective cerebellar damage in partial pyruvate dehydrogenase deficiency","volume":"26","author":"Reynolds","year":"1976","journal-title":"Neurology"},{"key":"10.1016\/S0022-3476(87)80112-9_bib32","series-title":"Genetic and metabolic disease in pediatrics","first-page":"111","article-title":"The lactic acidemias","author":"Robinson","year":"1985"},{"key":"10.1016\/S0022-3476(87)80112-9_bib33","doi-asserted-by":"crossref","first-page":"616","DOI":"10.1203\/00006450-197307000-00003","article-title":"The effect of thiamine treatment on the activity of pyruvate dehydrogenase: relation to the treatment of Leigh's encephalomyelopathy","volume":"7","author":"Hommes","year":"1973","journal-title":"Pediatr Res"},{"key":"10.1016\/S0022-3476(87)80112-9_bib34","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1002\/ajmg.1320220211","article-title":"Partial pyruvate decarboxylase deficiency with profound lacticacidosis and hyperammonemia","volume":"22","author":"McCormick","year":"1985","journal-title":"Am J Med Genet"},{"key":"10.1016\/S0022-3476(87)80112-9_bib35","doi-asserted-by":"crossref","first-page":"244","DOI":"10.1007\/BF01799655","article-title":"Treatment of chronic congenital lactic acidosis by oral administration of dichloroacetate","volume":"9","author":"Kuroda","year":"1986","journal-title":"J Inher Metab Dis"}],"container-title":["The Journal of Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022347687801129?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022347687801129?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2023,5,9]],"date-time":"2023-05-09T00:37:17Z","timestamp":1683592637000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0022347687801129"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1987,10]]},"references-count":35,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1987,10]]}},"alternative-id":["S0022347687801129"],"URL":"https:\/\/doi.org\/10.1016\/s0022-3476(87)80112-9","relation":{},"ISSN":["0022-3476"],"issn-type":[{"value":"0022-3476","type":"print"}],"subject":[],"published":{"date-parts":[[1987,10]]}}}