Matches in DBpedia 2015-10 for { <http://dbpedia.org/resource/Dicarboxylic_aminoaciduria> ?p ?o }
- Dicarboxylic_aminoaciduria abstract "Dicarboxylic aminoaciduria is a rare form of aminoaciduria (1:35 000 births) which is an autosomal recessive disorder of urinary glutamate and aspartate due to genetic errors related to transport of these amino acids. Mutations resulting in a lack of expression of the SLC1A1 gene, a member of the solute carrier family, are found to cause development of dicarboxylic aminoaciduria in humans. SLC1A1 encodes for EAAT3 which is found in the neurons, intestine, kidney, lung, and heart. EAAT3 is part of a family of high affinity glutamate transporters which transport both glutamate and aspartate across the plasma membrane.".
- Dicarboxylic_aminoaciduria icd10 "E72.0".
- Dicarboxylic_aminoaciduria meshId "C536171".
- Dicarboxylic_aminoaciduria omim "222730".
- Dicarboxylic_aminoaciduria thumbnail PBB_GE_SLC1A1_213664_at_tn.png?width=300.
- Dicarboxylic_aminoaciduria wikiPageID "41118976".
- Dicarboxylic_aminoaciduria wikiPageLength "8133".
- Dicarboxylic_aminoaciduria wikiPageOutDegree "66".
- Dicarboxylic_aminoaciduria wikiPageRevisionID "595148867".
- Dicarboxylic_aminoaciduria wikiPageWikiLink Alanine.
- Dicarboxylic_aminoaciduria wikiPageWikiLink Alanine_transaminase.
- Dicarboxylic_aminoaciduria wikiPageWikiLink Alpha-Ketoglutaric_acid.
- Dicarboxylic_aminoaciduria wikiPageWikiLink Alpha-ketoglutaric_acid.
- Dicarboxylic_aminoaciduria wikiPageWikiLink Amino_acid.
- Dicarboxylic_aminoaciduria wikiPageWikiLink Amino_acids.
- Dicarboxylic_aminoaciduria wikiPageWikiLink Aminoaciduria.
- Dicarboxylic_aminoaciduria wikiPageWikiLink Anionic.
- Dicarboxylic_aminoaciduria wikiPageWikiLink Aspartate.
- Dicarboxylic_aminoaciduria wikiPageWikiLink Aspartate_transaminase.
- Dicarboxylic_aminoaciduria wikiPageWikiLink Aspartic_acid.
- Dicarboxylic_aminoaciduria wikiPageWikiLink Brain.
- Dicarboxylic_aminoaciduria wikiPageWikiLink Category:Amino_acid_metabolism_disorders.
- Dicarboxylic_aminoaciduria wikiPageWikiLink Category:Autosomal_recessive_disorders.
- Dicarboxylic_aminoaciduria wikiPageWikiLink Deletion_(genetics).
- Dicarboxylic_aminoaciduria wikiPageWikiLink Digestion.
- Dicarboxylic_aminoaciduria wikiPageWikiLink Enterocyte.
- Dicarboxylic_aminoaciduria wikiPageWikiLink Enterocytes.
- Dicarboxylic_aminoaciduria wikiPageWikiLink Epithelial.
- Dicarboxylic_aminoaciduria wikiPageWikiLink Epithelium.
- Dicarboxylic_aminoaciduria wikiPageWikiLink Excitatory_amino-acid_transporter.
- Dicarboxylic_aminoaciduria wikiPageWikiLink Excitatory_amino_acid_transporter.
- Dicarboxylic_aminoaciduria wikiPageWikiLink Excreted.
- Dicarboxylic_aminoaciduria wikiPageWikiLink Excretion.
- Dicarboxylic_aminoaciduria wikiPageWikiLink Gastrointestinal_tract.
- Dicarboxylic_aminoaciduria wikiPageWikiLink Glutamate.
- Dicarboxylic_aminoaciduria wikiPageWikiLink Glutamic_acid.
- Dicarboxylic_aminoaciduria wikiPageWikiLink Heart.
- Dicarboxylic_aminoaciduria wikiPageWikiLink Human_gastrointestinal_tract.
- Dicarboxylic_aminoaciduria wikiPageWikiLink Hypoglycemia.
- Dicarboxylic_aminoaciduria wikiPageWikiLink Intellectual_disability.
- Dicarboxylic_aminoaciduria wikiPageWikiLink Intestine.
- Dicarboxylic_aminoaciduria wikiPageWikiLink Intestines.
- Dicarboxylic_aminoaciduria wikiPageWikiLink Ion.
- Dicarboxylic_aminoaciduria wikiPageWikiLink Ketoacidosis.
- Dicarboxylic_aminoaciduria wikiPageWikiLink Kidney.
- Dicarboxylic_aminoaciduria wikiPageWikiLink Kidneys.
- Dicarboxylic_aminoaciduria wikiPageWikiLink Lung.
- Dicarboxylic_aminoaciduria wikiPageWikiLink Neuron.
- Dicarboxylic_aminoaciduria wikiPageWikiLink Neurons.
- Dicarboxylic_aminoaciduria wikiPageWikiLink Neurotransmitter.
- Dicarboxylic_aminoaciduria wikiPageWikiLink Oxaloacetate.
- Dicarboxylic_aminoaciduria wikiPageWikiLink Oxaloacetic_acid.
- Dicarboxylic_aminoaciduria wikiPageWikiLink PH.
- Dicarboxylic_aminoaciduria wikiPageWikiLink Peptide.
- Dicarboxylic_aminoaciduria wikiPageWikiLink Peptides.
- Dicarboxylic_aminoaciduria wikiPageWikiLink Point_mutation.
- Dicarboxylic_aminoaciduria wikiPageWikiLink Potassium.
- Dicarboxylic_aminoaciduria wikiPageWikiLink Proton.
- Dicarboxylic_aminoaciduria wikiPageWikiLink Pyruvate.
- Dicarboxylic_aminoaciduria wikiPageWikiLink Pyruvic_acid.
- Dicarboxylic_aminoaciduria wikiPageWikiLink SLC1A1.
- Dicarboxylic_aminoaciduria wikiPageWikiLink Sodium.
- Dicarboxylic_aminoaciduria wikiPageWikiLink Urine.
- Dicarboxylic_aminoaciduria wikiPageWikiLink File:Alanine_amino_transférase.png.
- Dicarboxylic_aminoaciduria wikiPageWikiLink File:Aspartate_aminotransferase_reaction.png.
- Dicarboxylic_aminoaciduria wikiPageWikiLink File:Glutamatergic_Synapse.png.
- Dicarboxylic_aminoaciduria wikiPageWikiLinkText "Dicarboxylic aminoaciduria".
- Dicarboxylic_aminoaciduria wikiPageWikiLinkText "dicarboxylic aminoaciduria".
- Dicarboxylic_aminoaciduria altsymbols "; EAAC1; EAAT3".
- Dicarboxylic_aminoaciduria chembl "2721".
- Dicarboxylic_aminoaciduria diseasesdb "14901".
- Dicarboxylic_aminoaciduria geneatlasImage "PBB_GE_SLC1A1_206396_at_tn.png".
- Dicarboxylic_aminoaciduria geneatlasImage "PBB_GE_SLC1A1_213664_at_tn.png".
- Dicarboxylic_aminoaciduria hasPhotoCollection Dicarboxylic_aminoaciduria.
- Dicarboxylic_aminoaciduria hgncid "10939".
- Dicarboxylic_aminoaciduria homologene "20881".
- Dicarboxylic_aminoaciduria hsEnsembl "ENSG00000106688".
- Dicarboxylic_aminoaciduria hsEntrezgene "6505".
- Dicarboxylic_aminoaciduria hsGenlocChr "9".
- Dicarboxylic_aminoaciduria hsGenlocDb "hg19".
- Dicarboxylic_aminoaciduria hsGenlocEnd "4587469".
- Dicarboxylic_aminoaciduria hsGenlocStart "4490444".
- Dicarboxylic_aminoaciduria hsRefseqmrna "NM_004170".
- Dicarboxylic_aminoaciduria hsRefseqprotein "NP_004161".
- Dicarboxylic_aminoaciduria hsUniprot "P43005".
- Dicarboxylic_aminoaciduria icd "E72.0".
- Dicarboxylic_aminoaciduria meshid "536171.0".
- Dicarboxylic_aminoaciduria mgiid "105083".
- Dicarboxylic_aminoaciduria mmEnsembl "ENSMUSG00000024935".
- Dicarboxylic_aminoaciduria mmEntrezgene "20510".
- Dicarboxylic_aminoaciduria mmGenlocChr "19".
- Dicarboxylic_aminoaciduria mmGenlocDb "mm9".
- Dicarboxylic_aminoaciduria mmGenlocEnd "28913960".
- Dicarboxylic_aminoaciduria mmGenlocStart "28835049".
- Dicarboxylic_aminoaciduria mmRefseqmrna "NM_009199".
- Dicarboxylic_aminoaciduria mmRefseqprotein "NP_033225".
- Dicarboxylic_aminoaciduria mmUniprot "P51906".
- Dicarboxylic_aminoaciduria name "Dicarboxylic aminoaciduria".
- Dicarboxylic_aminoaciduria name "Solute carrier family 1 , member 1".
- Dicarboxylic_aminoaciduria omim "133550".