Lacticacidaemia due to pyruvate dehydrogenase deficiency, with evidence of protein polymorphism in the α-subunit of the enzyme
dc.contributor.author | Thoene, Jess G. | en_US |
dc.contributor.author | Petrova-Benedict, R. | en_US |
dc.contributor.author | McKay, N. | en_US |
dc.contributor.author | Wilson, W. | en_US |
dc.contributor.author | Robinson, B. | en_US |
dc.contributor.author | Bergen, B. | en_US |
dc.date.accessioned | 2006-09-11T19:05:15Z | |
dc.date.available | 2006-09-11T19:05:15Z | |
dc.date.issued | 1986-02 | en_US |
dc.identifier.citation | McKay, N.; Petrova-Benedict, R.; Thoene, J.; Bergen, B.; Wilson, W.; Robinson, B.; (1986). "Lacticacidaemia due to pyruvate dehydrogenase deficiency, with evidence of protein polymorphism in the α-subunit of the enzyme." European Journal of Pediatrics 144(5): 445-450. <http://hdl.handle.net/2027.42/47532> | en_US |
dc.identifier.issn | 0340-6199 | en_US |
dc.identifier.issn | 1432-1076 | en_US |
dc.identifier.uri | https://hdl.handle.net/2027.42/47532 | |
dc.identifier.uri | http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=3082638&dopt=citation | en_US |
dc.description.abstract | In three infants with neonatal lacticacidaemia, a deficiency in the E 1 (pyruvate dehydrogenase) component of the pyruvate dehydrogenase complex was demonstrated in skin fibroblast cultures. Residual activites of the pyruvate dehydrogenase complex in the activated state were 1.6%, 3.9% and 18.8% of control values, respectively. Immunoprecipitation of extracts of cultures skin fibroblasts grown on 35 S-methionine with anti-pyruvate dehydrogenase complex antibody revealed an abnormality in the E 1 α-component of these three patients when visualised after sodium dodecyl sulphate/polyacrylamide gel electrophoresis. This component appeared to have a slightly lower molecular weight than did this protein from control cell strains. Cell strains from other patients with a deficiency of the pyruvate dehydrogenase complex did not exhibit this defect. Three patients also showed dysmorphism and developmental abnormalities of the central nervous system. | en_US |
dc.format.extent | 1019930 bytes | |
dc.format.extent | 3115 bytes | |
dc.format.mimetype | application/pdf | |
dc.format.mimetype | text/plain | |
dc.language.iso | en_US | |
dc.publisher | Springer-Verlag | en_US |
dc.subject.other | Pediatrics | en_US |
dc.subject.other | Lacticacidaemia | en_US |
dc.subject.other | Medicine & Public Health | en_US |
dc.subject.other | Pyruvate Dehydrogenase Deficiency | en_US |
dc.subject.other | Protein Polymorphism | en_US |
dc.subject.other | Developmental Abnormalities | en_US |
dc.title | Lacticacidaemia due to pyruvate dehydrogenase deficiency, with evidence of protein polymorphism in the α-subunit of the enzyme | en_US |
dc.type | Article | en_US |
dc.subject.hlbsecondlevel | Pediatrics | en_US |
dc.subject.hlbtoplevel | Health Sciences | en_US |
dc.description.peerreviewed | Peer Reviewed | en_US |
dc.contributor.affiliationum | Department of Pediatrics, University of Michigan, The C.S. Mott Childrens Hospital, Ann Arbor, Michigan, USA | en_US |
dc.contributor.affiliationother | The Departments of Pediatrics and Biochemistry, University of Toronto, Toronto, Ontario, Canada; Research Institute, The Hospital for Sick Children, 555 University Avenue, M5G 1X8, Toronto, Ontario, Canada | en_US |
dc.contributor.affiliationother | The Departments of Pediatrics and Biochemistry, University of Toronto, Toronto, Ontario, Canada; Research Institute, The Hospital for Sick Children, 555 University Avenue, M5G 1X8, Toronto, Ontario, Canada | en_US |
dc.contributor.affiliationother | Department of Pediatrics, University of Virginia Medical Center, Charlottesville, Virginia, USA | en_US |
dc.contributor.affiliationother | The Departments of Pediatrics and Biochemistry, University of Toronto, Toronto, Ontario, Canada; Research Institute, The Hospital for Sick Children, 555 University Avenue, M5G 1X8, Toronto, Ontario, Canada | en_US |
dc.contributor.affiliationother | Department of Pediatrics, University of Minnesota, Minneapolis, USA | en_US |
dc.contributor.affiliationumcampus | Ann Arbor | en_US |
dc.identifier.pmid | 3082638 | en_US |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/47532/1/431_2004_Article_BF00441736.pdf | en_US |
dc.identifier.doi | http://dx.doi.org/10.1007/BF00441736 | en_US |
dc.identifier.source | European Journal of Pediatrics | en_US |
dc.owningcollname | Interdisciplinary and Peer-Reviewed |
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