| pubmed-article:10653336 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:10653336 | lifeskim:mentions | umls-concept:C0021289 | lld:lifeskim |
| pubmed-article:10653336 | lifeskim:mentions | umls-concept:C0038644 | lld:lifeskim |
| pubmed-article:10653336 | lifeskim:mentions | umls-concept:C0241888 | lld:lifeskim |
| pubmed-article:10653336 | lifeskim:mentions | umls-concept:C0342791 | lld:lifeskim |
| pubmed-article:10653336 | pubmed:issue | 1-2 | lld:pubmed |
| pubmed-article:10653336 | pubmed:dateCreated | 2000-2-10 | lld:pubmed |
| pubmed-article:10653336 | pubmed:abstractText | A patient with a severe phenotype of carnitine-acylcarnitine translocase deficiency (CATR)(McKusick 212138) is reported. Prior to birth, a defect in beta-oxidation was suspected because of neonatal death of six siblings. Dietary treatment during neonatal adaptation and the subsequent six months of life and a trial of carnitine supplementation are reported. The rapidity with which long chain fatty acid metabolites can accumulate and induce secondary carnitine deficiency within a few hours after birth in an infant with CATR is noteworthy. CONCLUSION: High rates of glucose suppressed neonatal lipolysis in this infant, but did not seem sufficient to avoid secondary carnitine deficiency as in severe forms of CATR. Therefore simultaneous use of insulin and glucose may be necessary to control neonatal lipolysis. Carnitine supplementation and the possible adverse effects of MCT systematically administrated, should be further assessed in patients with CATR. | lld:pubmed |
| pubmed-article:10653336 | pubmed:language | eng | lld:pubmed |
| pubmed-article:10653336 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:10653336 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:10653336 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:10653336 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:10653336 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:10653336 | pubmed:issn | 0340-6199 | lld:pubmed |
| pubmed-article:10653336 | pubmed:author | pubmed-author:BrivesJJ | lld:pubmed |
| pubmed-article:10653336 | pubmed:author | pubmed-author:RoeC RCR | lld:pubmed |
| pubmed-article:10653336 | pubmed:author | pubmed-author:SaudubrayJ... | lld:pubmed |
| pubmed-article:10653336 | pubmed:author | pubmed-author:CostaCC | lld:pubmed |
| pubmed-article:10653336 | pubmed:author | pubmed-author:ChamolesNN | lld:pubmed |
| pubmed-article:10653336 | pubmed:author | pubmed-author:NuofferJ MJM | lld:pubmed |
| pubmed-article:10653336 | pubmed:author | pubmed-author:de LonlayPP | lld:pubmed |
| pubmed-article:10653336 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:10653336 | pubmed:volume | 159 | lld:pubmed |
| pubmed-article:10653336 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:10653336 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:10653336 | pubmed:pagination | 82-5 | lld:pubmed |
| pubmed-article:10653336 | pubmed:dateRevised | 2006-11-15 | lld:pubmed |
| pubmed-article:10653336 | pubmed:meshHeading | pubmed-meshheading:10653336... | lld:pubmed |
| pubmed-article:10653336 | pubmed:meshHeading | pubmed-meshheading:10653336... | lld:pubmed |
| pubmed-article:10653336 | pubmed:meshHeading | pubmed-meshheading:10653336... | lld:pubmed |
| pubmed-article:10653336 | pubmed:meshHeading | pubmed-meshheading:10653336... | lld:pubmed |
| pubmed-article:10653336 | pubmed:meshHeading | pubmed-meshheading:10653336... | lld:pubmed |
| pubmed-article:10653336 | pubmed:meshHeading | pubmed-meshheading:10653336... | lld:pubmed |
| pubmed-article:10653336 | pubmed:meshHeading | pubmed-meshheading:10653336... | lld:pubmed |
| pubmed-article:10653336 | pubmed:meshHeading | pubmed-meshheading:10653336... | lld:pubmed |
| pubmed-article:10653336 | pubmed:meshHeading | pubmed-meshheading:10653336... | lld:pubmed |
| pubmed-article:10653336 | pubmed:meshHeading | pubmed-meshheading:10653336... | lld:pubmed |
| pubmed-article:10653336 | pubmed:meshHeading | pubmed-meshheading:10653336... | lld:pubmed |
| pubmed-article:10653336 | pubmed:articleTitle | Familial neonatal SIDS revealing carnitine-acylcarnitine translocase deficiency. | lld:pubmed |
| pubmed-article:10653336 | pubmed:affiliation | Department of Metabolic Disease, Hôpital Necker-Enfants, Malades, Paris, France. | lld:pubmed |
| pubmed-article:10653336 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:10653336 | pubmed:publicationType | Case Reports | lld:pubmed |
| pubmed-article:10653336 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:10653336 | lld:pubmed |
