| pubmed-article:10832746 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:10832746 | lifeskim:mentions | umls-concept:C0025519 | lld:lifeskim |
| pubmed-article:10832746 | lifeskim:mentions | umls-concept:C0022192 | lld:lifeskim |
| pubmed-article:10832746 | lifeskim:mentions | umls-concept:C0030016 | lld:lifeskim |
| pubmed-article:10832746 | lifeskim:mentions | umls-concept:C0011155 | lld:lifeskim |
| pubmed-article:10832746 | lifeskim:mentions | umls-concept:C0743559 | lld:lifeskim |
| pubmed-article:10832746 | pubmed:issue | 6 | lld:pubmed |
| pubmed-article:10832746 | pubmed:dateCreated | 2000-9-7 | lld:pubmed |
| pubmed-article:10832746 | pubmed:abstractText | An 4-mo-old male was found to have an isolated increase in 2-methylbutyrylglycine (2-MBG) and 2-methylbutyrylcamitine (2-MBC) in physiologic fluids. In vitro oxidation studies in cultured fibroblasts using 13C- and 14C-labeled branched chain amino acids indicated an isolated block in 2-methylbutyryl-CoA dehydrogenase (2-MBCDase). Western blotting revealed absence of 2-MBCDase protein in fibroblast extracts; DNA sequencing identified a single 778 C>T substitution in the 2-MBCDase coding region (778 C>T), substituting phenylalanine for leucine at amino acid 222 (L222F) and absence of enzyme activity for the 2-MBCDase protein expressed in Escherichia coli. Prenatal diagnosis in a subsequent pregnancy suggested an affected female fetus, supporting an autosomal recessive mode of inheritance. These data confirm the first documented case of isolated 2-MBCDase deficiency in humans. | lld:pubmed |
| pubmed-article:10832746 | pubmed:language | eng | lld:pubmed |
| pubmed-article:10832746 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:10832746 | pubmed:citationSubset | IM | lld:pubmed |
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| pubmed-article:10832746 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:10832746 | pubmed:month | Jun | lld:pubmed |
| pubmed-article:10832746 | pubmed:issn | 0031-3998 | lld:pubmed |
| pubmed-article:10832746 | pubmed:author | pubmed-author:KishII | lld:pubmed |
| pubmed-article:10832746 | pubmed:author | pubmed-author:RoeC RCR | lld:pubmed |
| pubmed-article:10832746 | pubmed:author | pubmed-author:SweetmanLL | lld:pubmed |
| pubmed-article:10832746 | pubmed:author | pubmed-author:SchutgensR... | lld:pubmed |
| pubmed-article:10832746 | pubmed:author | pubmed-author:JakobsCC | lld:pubmed |
| pubmed-article:10832746 | pubmed:author | pubmed-author:MillingtonDD | lld:pubmed |
| pubmed-article:10832746 | pubmed:author | pubmed-author:SacksMM | lld:pubmed |
| pubmed-article:10832746 | pubmed:author | pubmed-author:VockleyJJ | lld:pubmed |
| pubmed-article:10832746 | pubmed:author | pubmed-author:GibsonK MKM | lld:pubmed |
| pubmed-article:10832746 | pubmed:author | pubmed-author:SteinerR DRD | lld:pubmed |
| pubmed-article:10832746 | pubmed:author | pubmed-author:RinaldoPP | lld:pubmed |
| pubmed-article:10832746 | pubmed:author | pubmed-author:RoeD SDS | lld:pubmed |
| pubmed-article:10832746 | pubmed:author | pubmed-author:BurlingameT... | lld:pubmed |
| pubmed-article:10832746 | pubmed:author | pubmed-author:LinckLL | lld:pubmed |
| pubmed-article:10832746 | pubmed:author | pubmed-author:HogemaBB | lld:pubmed |
| pubmed-article:10832746 | pubmed:author | pubmed-author:PohowallaPP | lld:pubmed |
| pubmed-article:10832746 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:10832746 | pubmed:volume | 47 | lld:pubmed |
| pubmed-article:10832746 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:10832746 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:10832746 | pubmed:pagination | 830-3 | lld:pubmed |
| pubmed-article:10832746 | pubmed:dateRevised | 2006-11-15 | lld:pubmed |
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| pubmed-article:10832746 | pubmed:meshHeading | pubmed-meshheading:10832746... | lld:pubmed |
| pubmed-article:10832746 | pubmed:year | 2000 | lld:pubmed |
| pubmed-article:10832746 | pubmed:articleTitle | 2-Methylbutyryl-coenzyme A dehydrogenase deficiency: a new inborn error of L-isoleucine metabolism. | lld:pubmed |
| pubmed-article:10832746 | pubmed:affiliation | Department of Molecular and Medical Genetics, Oregon Health Sciences University, Portland 97201, USA. | lld:pubmed |
| pubmed-article:10832746 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:10832746 | pubmed:publicationType | Case Reports | lld:pubmed |
| literatureCitation:630_1083... | literatureCitation:pubmed | pubmed-article:10832746 | lld:drugbank |
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