Matches in DBpedia 2015-10 for { <http://dbpedia.org/resource/Ornithine_transcarbamylase_deficiency> ?p ?o }
Showing triples 1 to 99 of
99
with 100 triples per page.
- Ornithine_transcarbamylase_deficiency abstract "Ornithine transcarbamylase deficiency also known as OTC deficiency is the most common urea cycle disorder in humans. Ornithine transcarbamylase, the defective enzyme in this disorder is the final enzyme in the proximal portion of the urea cycle, responsible for converting carbamoyl phosphate and ornithine into citrulline. OTC deficiency is inherited in an X-linked recessive manner, meaning males are more commonly affected than females. In severely affected individuals, ammonia concentrations increase rapidly causing ataxia, lethargy and death without rapid intervention. OTC deficiency is diagnosed using a combination of clinical findings and biochemical testing, while confirmation is often done using molecular genetics techniques. Once an individual has been diagnosed, the treatment goal is to avoid precipitating episodes that can cause an increased ammonia concentration. The most common treatment combines a low protein diet with nitrogen scavenging agents. Liver transplant is considered curative for this disease. Experimental trials of gene therapy resulted in the death of one participant and have been discontinued.".
- Ornithine_transcarbamylase_deficiency icd10 "E72.4".
- Ornithine_transcarbamylase_deficiency icd9 "270.6".
- Ornithine_transcarbamylase_deficiency meshId "D020163".
- Ornithine_transcarbamylase_deficiency omim "311250".
- Ornithine_transcarbamylase_deficiency thumbnail L-Ornithine_structure.svg?width=300.
- Ornithine_transcarbamylase_deficiency wikiPageExternalLink www.nucdf.org.
- Ornithine_transcarbamylase_deficiency wikiPageID "1086440".
- Ornithine_transcarbamylase_deficiency wikiPageLength "12559".
- Ornithine_transcarbamylase_deficiency wikiPageOutDegree "50".
- Ornithine_transcarbamylase_deficiency wikiPageRevisionID "679014590".
- Ornithine_transcarbamylase_deficiency wikiPageWikiLink Adenoviridae.
- Ornithine_transcarbamylase_deficiency wikiPageWikiLink Adenovirus.
- Ornithine_transcarbamylase_deficiency wikiPageWikiLink Allopurinol.
- Ornithine_transcarbamylase_deficiency wikiPageWikiLink Arginine.
- Ornithine_transcarbamylase_deficiency wikiPageWikiLink Ataxia.
- Ornithine_transcarbamylase_deficiency wikiPageWikiLink Carbamoyl_phosphate.
- Ornithine_transcarbamylase_deficiency wikiPageWikiLink Category:Amino_acid_metabolism_disorders.
- Ornithine_transcarbamylase_deficiency wikiPageWikiLink Category:Genetic_disorders.
- Ornithine_transcarbamylase_deficiency wikiPageWikiLink Category:Urea_cycle.
- Ornithine_transcarbamylase_deficiency wikiPageWikiLink Category:X-linked_recessive_disorders.
- Ornithine_transcarbamylase_deficiency wikiPageWikiLink Citrulline.
- Ornithine_transcarbamylase_deficiency wikiPageWikiLink Clinical_trial.
- Ornithine_transcarbamylase_deficiency wikiPageWikiLink Clinical_trials.
- Ornithine_transcarbamylase_deficiency wikiPageWikiLink Encephalopathy.
- Ornithine_transcarbamylase_deficiency wikiPageWikiLink Enzyme.
- Ornithine_transcarbamylase_deficiency wikiPageWikiLink False_negative.
- Ornithine_transcarbamylase_deficiency wikiPageWikiLink False_positive.
- Ornithine_transcarbamylase_deficiency wikiPageWikiLink False_positives_and_false_negatives.
- Ornithine_transcarbamylase_deficiency wikiPageWikiLink Gene_therapy.
- Ornithine_transcarbamylase_deficiency wikiPageWikiLink Hemodialysis.
- Ornithine_transcarbamylase_deficiency wikiPageWikiLink Hyperammonemia.
- Ornithine_transcarbamylase_deficiency wikiPageWikiLink Jesse_Gelsinger.
- Ornithine_transcarbamylase_deficiency wikiPageWikiLink Lethargy.
- Ornithine_transcarbamylase_deficiency wikiPageWikiLink Liver_transplant.
- Ornithine_transcarbamylase_deficiency wikiPageWikiLink Liver_transplantation.
- Ornithine_transcarbamylase_deficiency wikiPageWikiLink Mitochondria.
- Ornithine_transcarbamylase_deficiency wikiPageWikiLink Mitochondrion.
- Ornithine_transcarbamylase_deficiency wikiPageWikiLink OTC.
- Ornithine_transcarbamylase_deficiency wikiPageWikiLink Organic_acidemia.
- Ornithine_transcarbamylase_deficiency wikiPageWikiLink Ornithine.
- Ornithine_transcarbamylase_deficiency wikiPageWikiLink Ornithine_aminotransferase_deficiency.
- Ornithine_transcarbamylase_deficiency wikiPageWikiLink Ornithine_transcarbamylase.
- Ornithine_transcarbamylase_deficiency wikiPageWikiLink Orotic_acid.
- Ornithine_transcarbamylase_deficiency wikiPageWikiLink Prenatal_diagnosis.
- Ornithine_transcarbamylase_deficiency wikiPageWikiLink Proband.
- Ornithine_transcarbamylase_deficiency wikiPageWikiLink Pyrimidine.
- Ornithine_transcarbamylase_deficiency wikiPageWikiLink Self-harm.
- Ornithine_transcarbamylase_deficiency wikiPageWikiLink Self-injury.
- Ornithine_transcarbamylase_deficiency wikiPageWikiLink Substrate_(biochemistry).
- Ornithine_transcarbamylase_deficiency wikiPageWikiLink Substrate_(chemistry).
- Ornithine_transcarbamylase_deficiency wikiPageWikiLink University_of_Pennsylvania.
- Ornithine_transcarbamylase_deficiency wikiPageWikiLink Urea_cycle.
- Ornithine_transcarbamylase_deficiency wikiPageWikiLink Urea_cycle_disorder.
- Ornithine_transcarbamylase_deficiency wikiPageWikiLink X-inactivation.
- Ornithine_transcarbamylase_deficiency wikiPageWikiLink X-linked_recessive.
- Ornithine_transcarbamylase_deficiency wikiPageWikiLink X-linked_recessive_inheritance.
- Ornithine_transcarbamylase_deficiency wikiPageWikiLink X_chromosome.
- Ornithine_transcarbamylase_deficiency wikiPageWikiLinkText "Ornithine transcarbamylase deficiency".
- Ornithine_transcarbamylase_deficiency wikiPageWikiLinkText "ornithine transcarbamylase deficiency".
- Ornithine_transcarbamylase_deficiency caption Ornithine.
- Ornithine_transcarbamylase_deficiency diseasesdb "9286".
- Ornithine_transcarbamylase_deficiency emedicinesubj "ped".
- Ornithine_transcarbamylase_deficiency emedicinetopic "2744".
- Ornithine_transcarbamylase_deficiency hasPhotoCollection Ornithine_transcarbamylase_deficiency.
- Ornithine_transcarbamylase_deficiency icd "270.6".
- Ornithine_transcarbamylase_deficiency icd "E72.4".
- Ornithine_transcarbamylase_deficiency medlineplus "372".
- Ornithine_transcarbamylase_deficiency meshid "D020163".
- Ornithine_transcarbamylase_deficiency name "Ornithine transcarbamylase deficiency".
- Ornithine_transcarbamylase_deficiency omim "311250".
- Ornithine_transcarbamylase_deficiency wikiPageUsesTemplate Template:Amino_acid_metabolic_pathology.
- Ornithine_transcarbamylase_deficiency wikiPageUsesTemplate Template:Infobox_disease.
- Ornithine_transcarbamylase_deficiency wikiPageUsesTemplate Template:Reflist.
- Ornithine_transcarbamylase_deficiency wikiPageUsesTemplate Template:X-linked_disorders.
- Ornithine_transcarbamylase_deficiency subject Category:Amino_acid_metabolism_disorders.
- Ornithine_transcarbamylase_deficiency subject Category:Genetic_disorders.
- Ornithine_transcarbamylase_deficiency subject Category:Urea_cycle.
- Ornithine_transcarbamylase_deficiency subject Category:X-linked_recessive_disorders.
- Ornithine_transcarbamylase_deficiency type Article.
- Ornithine_transcarbamylase_deficiency type Disease.
- Ornithine_transcarbamylase_deficiency type Article.
- Ornithine_transcarbamylase_deficiency type Disorder.
- Ornithine_transcarbamylase_deficiency type Error.
- Ornithine_transcarbamylase_deficiency type Thing.
- Ornithine_transcarbamylase_deficiency type Q12136.
- Ornithine_transcarbamylase_deficiency comment "Ornithine transcarbamylase deficiency also known as OTC deficiency is the most common urea cycle disorder in humans. Ornithine transcarbamylase, the defective enzyme in this disorder is the final enzyme in the proximal portion of the urea cycle, responsible for converting carbamoyl phosphate and ornithine into citrulline. OTC deficiency is inherited in an X-linked recessive manner, meaning males are more commonly affected than females.".
- Ornithine_transcarbamylase_deficiency label "Ornithine transcarbamylase deficiency".
- Ornithine_transcarbamylase_deficiency sameAs OTC_urritasun.
- Ornithine_transcarbamylase_deficiency sameAs نقص_اورنیتین_ترانس_کاربامیلاز.
- Ornithine_transcarbamylase_deficiency sameAs Déficit_en_ornithine_carbamyl_transférase.
- Ornithine_transcarbamylase_deficiency sameAs Deficiência_da_ornitina_transcarbamilase.
- Ornithine_transcarbamylase_deficiency sameAs m.044sfd.
- Ornithine_transcarbamylase_deficiency sameAs Q3043161.
- Ornithine_transcarbamylase_deficiency sameAs Q3043161.
- Ornithine_transcarbamylase_deficiency wasDerivedFrom Ornithine_transcarbamylase_deficiency?oldid=679014590.
- Ornithine_transcarbamylase_deficiency depiction L-Ornithine_structure.svg.
- Ornithine_transcarbamylase_deficiency isPrimaryTopicOf Ornithine_transcarbamylase_deficiency.
- Ornithine_transcarbamylase_deficiency name "Ornithine transcarbamylase deficiency".