| http://purl.uniprot.org/citations/16151898 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/16151898 | http://www.w3.org/2000/01/rdf-schema#comment | "We report a patient who was first diagnosed as having congenital carbamoyl-phosphate synthetase-1 (CPS-1) deficiency on the basis of significantly low CPS-1 activity in the liver at 1 year of age. We then started therapy against hyperammonaemia with little effect and, at the age of 15 years, we analysed the GLUD1 gene and found a previously reported gain-of-function mutation in the gene, resulting in a change of her diagnosis to hyperinsulinism/hyperammonaemia (HI/HA) syndrome. This case demonstrates that low CPS-1 activity in liver, however significant it might be, does not always come from a primary CPS-1 deficiency and that we have to take into consideration the possibility of a secondary CPS-1 deficiency, such as HI/HA syndrome."xsd:string |
| http://purl.uniprot.org/citations/16151898 | http://purl.org/dc/terms/identifier | "doi:10.1007/s10545-005-0084-z"xsd:string |
| http://purl.uniprot.org/citations/16151898 | http://purl.uniprot.org/core/author | "Hara T."xsd:string |
| http://purl.uniprot.org/citations/16151898 | http://purl.uniprot.org/core/author | "Ihara K."xsd:string |
| http://purl.uniprot.org/citations/16151898 | http://purl.uniprot.org/core/author | "Yasuda K."xsd:string |
| http://purl.uniprot.org/citations/16151898 | http://purl.uniprot.org/core/author | "Kuromaru R."xsd:string |
| http://purl.uniprot.org/citations/16151898 | http://purl.uniprot.org/core/author | "Miyako K."xsd:string |
| http://purl.uniprot.org/citations/16151898 | http://purl.uniprot.org/core/author | "Ishimura M."xsd:string |
| http://purl.uniprot.org/citations/16151898 | http://purl.uniprot.org/core/author | "Wang H.Y."xsd:string |
| http://purl.uniprot.org/citations/16151898 | http://purl.uniprot.org/core/date | "2005"xsd:gYear |
| http://purl.uniprot.org/citations/16151898 | http://purl.uniprot.org/core/name | "J Inherit Metab Dis"xsd:string |
| http://purl.uniprot.org/citations/16151898 | http://purl.uniprot.org/core/pages | "681-687"xsd:string |
| http://purl.uniprot.org/citations/16151898 | http://purl.uniprot.org/core/title | "A case of hyperinsulinism/hyperammonaemia syndrome with reduced carbamoyl-phosphate synthetase-1 activity in liver: a pitfall in enzymatic diagnosis for hyperammonaemia."xsd:string |
| http://purl.uniprot.org/citations/16151898 | http://purl.uniprot.org/core/volume | "28"xsd:string |
| http://purl.uniprot.org/citations/16151898 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/16151898 |
| http://purl.uniprot.org/citations/16151898 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/16151898 |
| http://purl.uniprot.org/uniprot/#_B3KT18-mappedCitation-16151898 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/16151898 |
| http://purl.uniprot.org/uniprot/#_B4DMF5-mappedCitation-16151898 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/16151898 |
| http://purl.uniprot.org/uniprot/#_B4DMG8-mappedCitation-16151898 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/16151898 |
| http://purl.uniprot.org/uniprot/#_B4E0N9-mappedCitation-16151898 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/16151898 |
| http://purl.uniprot.org/uniprot/#_E9KL48-mappedCitation-16151898 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/16151898 |
| http://purl.uniprot.org/uniprot/#_Q53GW3-mappedCitation-16151898 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/16151898 |
| http://purl.uniprot.org/uniprot/#_Q14400-mappedCitation-16151898 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/16151898 |
| http://purl.uniprot.org/uniprot/#_P00367-mappedCitation-16151898 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/16151898 |