| http://purl.uniprot.org/citations/16325442 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/16325442 | http://www.w3.org/2000/01/rdf-schema#comment | "Pyruvate carboxylase (PC) is a key enzyme for gluconeogenesis and anaplerotic pathways in brain. PC deficiency is a rare autosomal recessive neurometabolic disorder with three described characteristic presentations. We report a patient with atypical clinical and neuroradiological aspects. He survived from neonatal lactic acidemia and is alive at 9 years of age with a mild developmental delay. A brain MRI performed by the age of 18 months disclosed an unusual subcortical leucodystrophic process."xsd:string |
| http://purl.uniprot.org/citations/16325442 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.ymgme.2005.10.007"xsd:string |
| http://purl.uniprot.org/citations/16325442 | http://purl.uniprot.org/core/author | "Vianey-Saban C."xsd:string |
| http://purl.uniprot.org/citations/16325442 | http://purl.uniprot.org/core/author | "Acquaviva C."xsd:string |
| http://purl.uniprot.org/citations/16325442 | http://purl.uniprot.org/core/author | "Guffon N."xsd:string |
| http://purl.uniprot.org/citations/16325442 | http://purl.uniprot.org/core/author | "Schiff M."xsd:string |
| http://purl.uniprot.org/citations/16325442 | http://purl.uniprot.org/core/author | "Rolland M.O."xsd:string |
| http://purl.uniprot.org/citations/16325442 | http://purl.uniprot.org/core/author | "Levrat V."xsd:string |
| http://purl.uniprot.org/citations/16325442 | http://purl.uniprot.org/core/date | "2006"xsd:gYear |
| http://purl.uniprot.org/citations/16325442 | http://purl.uniprot.org/core/name | "Mol Genet Metab"xsd:string |
| http://purl.uniprot.org/citations/16325442 | http://purl.uniprot.org/core/pages | "175-177"xsd:string |
| http://purl.uniprot.org/citations/16325442 | http://purl.uniprot.org/core/title | "A case of pyruvate carboxylase deficiency with atypical clinical and neuroradiological presentation."xsd:string |
| http://purl.uniprot.org/citations/16325442 | http://purl.uniprot.org/core/volume | "87"xsd:string |
| http://purl.uniprot.org/citations/16325442 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/16325442 |
| http://purl.uniprot.org/citations/16325442 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/16325442 |
| http://purl.uniprot.org/uniprot/#_P11498-mappedCitation-16325442 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/16325442 |
| http://purl.uniprot.org/uniprot/P11498 | http://purl.uniprot.org/core/mappedCitation | http://purl.uniprot.org/citations/16325442 |