| http://purl.uniprot.org/citations/16491085 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/16491085 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/16491085 | http://www.w3.org/2000/01/rdf-schema#comment | "We show here that children with pyridoxine-dependent seizures (PDS) have mutations in the ALDH7A1 gene, which encodes antiquitin; these mutations abolish the activity of antiquitin as a delta1-piperideine-6-carboxylate (P6C)-alpha-aminoadipic semialdehyde (alpha-AASA) dehydrogenase. The accumulating P6C inactivates pyridoxal 5'-phosphate (PLP) by forming a Knoevenagel condensation product. Measurement of urinary alpha-AASA provides a simple way of confirming the diagnosis of PDS and ALDH7A1 gene analysis provides a means for prenatal diagnosis."xsd:string |
| http://purl.uniprot.org/citations/16491085 | http://purl.org/dc/terms/identifier | "doi:10.1038/nm1366"xsd:string |
| http://purl.uniprot.org/citations/16491085 | http://purl.org/dc/terms/identifier | "doi:10.1038/nm1366"xsd:string |
| http://purl.uniprot.org/citations/16491085 | http://purl.uniprot.org/core/author | "Jakobs C."xsd:string |
| http://purl.uniprot.org/citations/16491085 | http://purl.uniprot.org/core/author | "Jakobs C."xsd:string |
| http://purl.uniprot.org/citations/16491085 | http://purl.uniprot.org/core/author | "Willemsen M.A.A.P."xsd:string |
| http://purl.uniprot.org/citations/16491085 | http://purl.uniprot.org/core/author | "Willemsen M.A.A.P."xsd:string |
| http://purl.uniprot.org/citations/16491085 | http://purl.uniprot.org/core/author | "Plecko B."xsd:string |
| http://purl.uniprot.org/citations/16491085 | http://purl.uniprot.org/core/author | "Plecko B."xsd:string |
| http://purl.uniprot.org/citations/16491085 | http://purl.uniprot.org/core/author | "Clayton P.T."xsd:string |
| http://purl.uniprot.org/citations/16491085 | http://purl.uniprot.org/core/author | "Clayton P.T."xsd:string |
| http://purl.uniprot.org/citations/16491085 | http://purl.uniprot.org/core/author | "Baumgartner M."xsd:string |
| http://purl.uniprot.org/citations/16491085 | http://purl.uniprot.org/core/author | "Baumgartner M."xsd:string |
| http://purl.uniprot.org/citations/16491085 | http://purl.uniprot.org/core/author | "Omran H."xsd:string |
| http://purl.uniprot.org/citations/16491085 | http://purl.uniprot.org/core/author | "Omran H."xsd:string |
| http://purl.uniprot.org/citations/16491085 | http://purl.uniprot.org/core/author | "Struys E."xsd:string |
| http://purl.uniprot.org/citations/16491085 | http://purl.uniprot.org/core/author | "Struys E."xsd:string |
| http://purl.uniprot.org/citations/16491085 | http://purl.uniprot.org/core/author | "Baxter P."xsd:string |
| http://purl.uniprot.org/citations/16491085 | http://purl.uniprot.org/core/author | "Baxter P."xsd:string |
| http://purl.uniprot.org/citations/16491085 | http://purl.uniprot.org/core/author | "Mills P.B."xsd:string |
| http://purl.uniprot.org/citations/16491085 | http://purl.uniprot.org/core/author | "Mills P.B."xsd:string |
| http://purl.uniprot.org/citations/16491085 | http://purl.uniprot.org/core/author | "Tacke U."xsd:string |
| http://purl.uniprot.org/citations/16491085 | http://purl.uniprot.org/core/author | "Tacke U."xsd:string |