| http://purl.uniprot.org/citations/22374380 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/22374380 | http://www.w3.org/2000/01/rdf-schema#comment | "Hypertrophic cardiomyopathy (HCM) is a rare presenting feature of congenital disorder of glycosylation type Ia (CDG-Ia). We report two female siblings with CDG-Ia and cardiomyopathy. Patient no. 1 died at 12 days of age from cardiac rupture and tamponade, which has not previously been reported in CDG-Ia. The second patient died at 2 months of age from HCM. The severe cardiac manifestations seen in our patients emphasize the importance of early cardiac assessment in all patients with CDG-Ia."xsd:string |
| http://purl.uniprot.org/citations/22374380 | http://purl.org/dc/terms/identifier | "doi:10.1007/s00246-012-0214-y"xsd:string |
| http://purl.uniprot.org/citations/22374380 | http://purl.uniprot.org/core/author | "Kelly A."xsd:string |
| http://purl.uniprot.org/citations/22374380 | http://purl.uniprot.org/core/author | "Andersen C."xsd:string |
| http://purl.uniprot.org/citations/22374380 | http://purl.uniprot.org/core/author | "Barnett C.P."xsd:string |
| http://purl.uniprot.org/citations/22374380 | http://purl.uniprot.org/core/author | "Rudaks L.I."xsd:string |
| http://purl.uniprot.org/citations/22374380 | http://purl.uniprot.org/core/author | "Fietz M."xsd:string |
| http://purl.uniprot.org/citations/22374380 | http://purl.uniprot.org/core/author | "Khong T.Y."xsd:string |
| http://purl.uniprot.org/citations/22374380 | http://purl.uniprot.org/core/date | "2012"xsd:gYear |
| http://purl.uniprot.org/citations/22374380 | http://purl.uniprot.org/core/name | "Pediatr Cardiol"xsd:string |
| http://purl.uniprot.org/citations/22374380 | http://purl.uniprot.org/core/pages | "827-830"xsd:string |
| http://purl.uniprot.org/citations/22374380 | http://purl.uniprot.org/core/title | "Hypertrophic cardiomyopathy with cardiac rupture and tamponade caused by congenital disorder of glycosylation type Ia."xsd:string |
| http://purl.uniprot.org/citations/22374380 | http://purl.uniprot.org/core/volume | "33"xsd:string |
| http://purl.uniprot.org/citations/22374380 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/22374380 |
| http://purl.uniprot.org/citations/22374380 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/22374380 |
| http://purl.uniprot.org/uniprot/#_A0A0S2Z4J6-mappedCitation-22374380 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/22374380 |
| http://purl.uniprot.org/uniprot/#_A0A291FGD1-mappedCitation-22374380 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/22374380 |
| http://purl.uniprot.org/uniprot/#_B7Z3M6-mappedCitation-22374380 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/22374380 |
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| http://purl.uniprot.org/uniprot/#_O15305-mappedCitation-22374380 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/22374380 |
| http://purl.uniprot.org/uniprot/#_B7Z6A1-mappedCitation-22374380 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/22374380 |
| http://purl.uniprot.org/uniprot/#_B7Z922-mappedCitation-22374380 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/22374380 |
| http://purl.uniprot.org/uniprot/#_H3BV34-mappedCitation-22374380 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/22374380 |