| pubmed-article:1293380 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:1293380 | lifeskim:mentions | umls-concept:C0021289 | lld:lifeskim |
| pubmed-article:1293380 | lifeskim:mentions | umls-concept:C0007194 | lld:lifeskim |
| pubmed-article:1293380 | lifeskim:mentions | umls-concept:C0282577 | lld:lifeskim |
| pubmed-article:1293380 | pubmed:issue | 6 | lld:pubmed |
| pubmed-article:1293380 | pubmed:dateCreated | 1993-4-8 | lld:pubmed |
| pubmed-article:1293380 | pubmed:abstractText | The carbohydrate-deficient glycoprotein (CDG) syndrome in its most severe form (neonatal olivopontocerebellar atrophy) is a life-threatening multisystem disease. We report a neonate who was referred for cardiological assessment because of respiratory distress, a murmur and episodes of desaturation. After initial spontaneous improvement he presented at 9 weeks with evidence of a severe hypertrophic obstructive cardiomyopathy (HOCM). The diagnosis of CDG syndrome was suggested by the characteristic dysmorphic features, hypotonia, visual inattention and severe failure to thrive; it was confirmed by electrophoresis of serum transferrin. HOCM can be a feature of the CDG syndrome, in addition to the (previously reported) pericardial effusions. | lld:pubmed |
| pubmed-article:1293380 | pubmed:language | eng | lld:pubmed |
| pubmed-article:1293380 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:1293380 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:1293380 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:1293380 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:1293380 | pubmed:issn | 0141-8955 | lld:pubmed |
| pubmed-article:1293380 | pubmed:author | pubmed-author:WinchesterB... | lld:pubmed |
| pubmed-article:1293380 | pubmed:author | pubmed-author:ClaytonP TPT | lld:pubmed |
| pubmed-article:1293380 | pubmed:author | pubmed-author:KeirGG | lld:pubmed |
| pubmed-article:1293380 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:1293380 | pubmed:volume | 15 | lld:pubmed |
| pubmed-article:1293380 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:1293380 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:1293380 | pubmed:pagination | 857-61 | lld:pubmed |
| pubmed-article:1293380 | pubmed:dateRevised | 2007-3-21 | lld:pubmed |
| pubmed-article:1293380 | pubmed:meshHeading | pubmed-meshheading:1293380-... | lld:pubmed |
| pubmed-article:1293380 | pubmed:meshHeading | pubmed-meshheading:1293380-... | lld:pubmed |
| pubmed-article:1293380 | pubmed:meshHeading | pubmed-meshheading:1293380-... | lld:pubmed |
| pubmed-article:1293380 | pubmed:meshHeading | pubmed-meshheading:1293380-... | lld:pubmed |
| pubmed-article:1293380 | pubmed:meshHeading | pubmed-meshheading:1293380-... | lld:pubmed |
| pubmed-article:1293380 | pubmed:meshHeading | pubmed-meshheading:1293380-... | lld:pubmed |
| pubmed-article:1293380 | pubmed:meshHeading | pubmed-meshheading:1293380-... | lld:pubmed |
| pubmed-article:1293380 | pubmed:meshHeading | pubmed-meshheading:1293380-... | lld:pubmed |
| pubmed-article:1293380 | pubmed:meshHeading | pubmed-meshheading:1293380-... | lld:pubmed |
| pubmed-article:1293380 | pubmed:meshHeading | pubmed-meshheading:1293380-... | lld:pubmed |
| pubmed-article:1293380 | pubmed:meshHeading | pubmed-meshheading:1293380-... | lld:pubmed |
| pubmed-article:1293380 | pubmed:meshHeading | pubmed-meshheading:1293380-... | lld:pubmed |
| pubmed-article:1293380 | pubmed:meshHeading | pubmed-meshheading:1293380-... | lld:pubmed |
| pubmed-article:1293380 | pubmed:year | 1992 | lld:pubmed |
| pubmed-article:1293380 | pubmed:articleTitle | Hypertrophic obstructive cardiomyopathy in a neonate with the carbohydrate-deficient glycoprotein syndrome. | lld:pubmed |
| pubmed-article:1293380 | pubmed:affiliation | Division of Biochemistry and Metabolism, Institute of Child Health, London, UK. | lld:pubmed |
| pubmed-article:1293380 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:1293380 | pubmed:publicationType | Case Reports | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1293380 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1293380 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1293380 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1293380 | lld:pubmed |
