| pubmed-article:9501264 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:9501264 | lifeskim:mentions | umls-concept:C0034345 | lld:lifeskim |
| pubmed-article:9501264 | lifeskim:mentions | umls-concept:C0332197 | lld:lifeskim |
| pubmed-article:9501264 | lifeskim:mentions | umls-concept:C1711351 | lld:lifeskim |
| pubmed-article:9501264 | pubmed:issue | 1 | lld:pubmed |
| pubmed-article:9501264 | pubmed:dateCreated | 1998-4-23 | lld:pubmed |
| pubmed-article:9501264 | pubmed:abstractText | The pyruvate dehydrogenase complex (PDHc) is a multienzyme complex consisting of three catalytic and two regulatory enzymes, as well as a less well defined subunit called protein X. PDHc deficiency is a common cause of congenital lactic acidosis. Most patients with PDH deficiency have a mutation in the alpha chain of the PDH E1 enzyme. Very few patients have been described in whom the basic defect of a PDH deficiency is situated in the X protein. We studied a boy with severe lactic acidosis and developmental delay in whom a deficiency of PDH activity led to further investigations. Immunochemical analysis with anti-PDHc antibodies demonstrated an absence of the X component. This report is the fourth family in which an abnormal protein X has been found. In cases with PDH deficiency where no mutation of the PDHE1 alpha gene is found, further investigations by means of immunoblotting with specific antibodies against the different subunits should be performed. | lld:pubmed |
| pubmed-article:9501264 | pubmed:language | eng | lld:pubmed |
| pubmed-article:9501264 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:9501264 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:9501264 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:9501264 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:9501264 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:9501264 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:9501264 | pubmed:month | Feb | lld:pubmed |
| pubmed-article:9501264 | pubmed:issn | 0141-8955 | lld:pubmed |
| pubmed-article:9501264 | pubmed:author | pubmed-author:LiebaersII | lld:pubmed |
| pubmed-article:9501264 | pubmed:author | pubmed-author:LissensWW | lld:pubmed |
| pubmed-article:9501264 | pubmed:author | pubmed-author:MarsacCC | lld:pubmed |
| pubmed-article:9501264 | pubmed:author | pubmed-author:De MeirleirLL | lld:pubmed |
| pubmed-article:9501264 | pubmed:author | pubmed-author:BenelliCC | lld:pubmed |
| pubmed-article:9501264 | pubmed:author | pubmed-author:SenecaSS | lld:pubmed |
| pubmed-article:9501264 | pubmed:author | pubmed-author:ScholtzWW | lld:pubmed |
| pubmed-article:9501264 | pubmed:author | pubmed-author:van... | lld:pubmed |
| pubmed-article:9501264 | pubmed:author | pubmed-author:KleijerWW | lld:pubmed |
| pubmed-article:9501264 | pubmed:author | pubmed-author:De KlerkJJ | lld:pubmed |
| pubmed-article:9501264 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:9501264 | pubmed:volume | 21 | lld:pubmed |
| pubmed-article:9501264 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:9501264 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:9501264 | pubmed:pagination | 9-16 | lld:pubmed |
| pubmed-article:9501264 | pubmed:dateRevised | 2007-3-21 | lld:pubmed |
| pubmed-article:9501264 | pubmed:meshHeading | pubmed-meshheading:9501264-... | lld:pubmed |
| pubmed-article:9501264 | pubmed:meshHeading | pubmed-meshheading:9501264-... | lld:pubmed |
| pubmed-article:9501264 | pubmed:meshHeading | pubmed-meshheading:9501264-... | lld:pubmed |
| pubmed-article:9501264 | pubmed:meshHeading | pubmed-meshheading:9501264-... | lld:pubmed |
| pubmed-article:9501264 | pubmed:meshHeading | pubmed-meshheading:9501264-... | lld:pubmed |
| pubmed-article:9501264 | pubmed:meshHeading | pubmed-meshheading:9501264-... | lld:pubmed |
| pubmed-article:9501264 | pubmed:meshHeading | pubmed-meshheading:9501264-... | lld:pubmed |
| pubmed-article:9501264 | pubmed:year | 1998 | lld:pubmed |
| pubmed-article:9501264 | pubmed:articleTitle | Pyruvate dehydrogenase complex deficiency and absence of subunit X. | lld:pubmed |
| pubmed-article:9501264 | pubmed:affiliation | Department of Medical Genetics and Neuropediatrics, University Hospital, Vrije Universiteit Brussel, Belgium. | lld:pubmed |
| pubmed-article:9501264 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:9501264 | pubmed:publicationType | Case Reports | lld:pubmed |
| pubmed-article:9501264 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
