pubmed-article:12127325 | rdf:type | pubmed:Citation | lld:pubmed |
pubmed-article:12127325 | lifeskim:mentions | umls-concept:C0030705 | lld:lifeskim |
pubmed-article:12127325 | lifeskim:mentions | umls-concept:C1524119 | lld:lifeskim |
pubmed-article:12127325 | lifeskim:mentions | umls-concept:C0268631 | lld:lifeskim |
pubmed-article:12127325 | lifeskim:mentions | umls-concept:C1511790 | lld:lifeskim |
pubmed-article:12127325 | lifeskim:mentions | umls-concept:C0024868 | lld:lifeskim |
pubmed-article:12127325 | lifeskim:mentions | umls-concept:C0673093 | lld:lifeskim |
pubmed-article:12127325 | lifeskim:mentions | umls-concept:C0439831 | lld:lifeskim |
pubmed-article:12127325 | lifeskim:mentions | umls-concept:C0600686 | lld:lifeskim |
pubmed-article:12127325 | lifeskim:mentions | umls-concept:C0332324 | lld:lifeskim |
pubmed-article:12127325 | pubmed:issue | 1 | lld:pubmed |
pubmed-article:12127325 | pubmed:dateCreated | 2002-7-19 | lld:pubmed |
pubmed-article:12127325 | pubmed:abstractText | We describe the rapid and sensitive detection of 4-hydroxybutyric acid, which is a marker compound for succinic semialdehyde dehydrogenase (SSADH) deficiency. Urinary 4-hydroxybutyric acid and 3,4-dihydroxybutyric acid were targeted, quantified by gas chromatography-mass spectrometry after simplified urease digestion in which lactone formation from gamma-hydroxy acids is minimized. The recovery of 4-hydroxybutyric acid using this method was over 93%. 2,2-Dimethylsuccinic acid was used as an internal standard. The detection limit of this method was 1 nmol ml(-1) for both 4-hydroxybutyric acid and 3,4-dihydroxybutyric acid. The urinary concentrations of 4-hydroxybutyric acid and of 3,4-dihydroxybutyric acid from the patient with an SSADH deficiency were 880-3628 mmol mol(-1) creatinine (control; 3.3+/-3.3 mmol mol(-1) creatinine) and 810-1366 mmol mol(-1) creatinine (control; 67.4+/-56.2 mmol mol(-1) creatinine), respectively. The simplified urease digestion of urine is very useful for quantifying 4-hydroxybutyric acid and its related compounds in patients with 4-hydroxybutyric aciduria. | lld:pubmed |
pubmed-article:12127325 | pubmed:language | eng | lld:pubmed |
pubmed-article:12127325 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:12127325 | pubmed:citationSubset | IM | lld:pubmed |
pubmed-article:12127325 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:12127325 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:12127325 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:12127325 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:12127325 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:12127325 | pubmed:status | MEDLINE | lld:pubmed |
pubmed-article:12127325 | pubmed:month | Aug | lld:pubmed |
pubmed-article:12127325 | pubmed:issn | 1570-0232 | lld:pubmed |
pubmed-article:12127325 | pubmed:author | pubmed-author:ItoAkiraA | lld:pubmed |
pubmed-article:12127325 | pubmed:author | pubmed-author:HiroseShinich... | lld:pubmed |
pubmed-article:12127325 | pubmed:author | pubmed-author:ShinkaToshihi... | lld:pubmed |
pubmed-article:12127325 | pubmed:author | pubmed-author:InoueYoshitoY | lld:pubmed |
pubmed-article:12127325 | pubmed:author | pubmed-author:OhseMorimasaM | lld:pubmed |
pubmed-article:12127325 | pubmed:author | pubmed-author:OhfuMasaharuM | lld:pubmed |
pubmed-article:12127325 | pubmed:author | pubmed-author:KuharaTomikoT | lld:pubmed |
pubmed-article:12127325 | pubmed:copyrightInfo | Copyright 2002 Elsevier Science B.V. | lld:pubmed |
pubmed-article:12127325 | pubmed:issnType | Print | lld:pubmed |
pubmed-article:12127325 | pubmed:day | 25 | lld:pubmed |
pubmed-article:12127325 | pubmed:volume | 776 | lld:pubmed |
pubmed-article:12127325 | pubmed:owner | NLM | lld:pubmed |
pubmed-article:12127325 | pubmed:authorsComplete | Y | lld:pubmed |
pubmed-article:12127325 | pubmed:pagination | 57-63 | lld:pubmed |
pubmed-article:12127325 | pubmed:dateRevised | 2006-11-15 | lld:pubmed |
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pubmed-article:12127325 | pubmed:year | 2002 | lld:pubmed |
pubmed-article:12127325 | pubmed:articleTitle | Rapid and sensitive detection of urinary 4-hydroxybutyric acid and its related compounds by gas chromatography-mass spectrometry in a patient with succinic semialdehyde dehydrogenase deficiency. | lld:pubmed |
pubmed-article:12127325 | pubmed:affiliation | Division of Human Genetics, Medical Research Institute, Kanazawa Medical University, 1-1 Daigaku, Uchinada-machi, Ishikawa 920-0293, Japan. shinka@kanazawa-med.ac.jp | lld:pubmed |
pubmed-article:12127325 | pubmed:publicationType | Journal Article | lld:pubmed |
pubmed-article:12127325 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |