Late-onset ornithine transcarbamylase deficiency in male patients
about
Site specific screening for point mutations in ornithine transcarbamylase deficiency.Genotype-Phenotype Correlations in Ornithine Transcarbamylase Deficiency: A Mutation UpdateOrnithine carbamoyltransferase deficiencyRapidly fatal hyperammonemic coma in adults. Urea cycle enzyme deficiencySignificant hepatic involvement in patients with ornithine transcarbamylase deficiency.Mutations and polymorphisms in the human ornithine transcarbamylase gene.Functional interactions between the LRP6 WNT co-receptor and folate supplementationSirt3 promotes the urea cycle and fatty acid oxidation during dietary restrictionSudden unexpected fatal encephalopathy in adults with OTC gene mutations-Clues for early diagnosis and timely treatmentUnder recognition of late onset ornithine transcarbamylase deficiencyMitochondrial sirtuins and their relationships with metabolic disease and cancer.Young onset dementiaHyperammonemia, bane of the brain.Fatal coma in a young adult due to late-onset urea cycle deficiency presenting with a prolonged seizure: a case report.Hyperammonemia encephalopathy: an important cause of neurological deterioration following chemotherapy.Valproic Acid-induced hyperammonemia in the elderly: a review of the literatureAn insight into the biochemistry of inborn errors of metabolism for a clinical neurologist.Noncirrhotic hyperammonaemic encephalopathy.Histopathological findings in a male with late-onset ornithine transcarbamylase deficiency.Reversible Encephalopathy due to Valproic Acid Induced Hyperammonemia in a Patient with Bipolar I Disorder: A Cautionary Report.Correction of ureagenesis after gene transfer in an animal model and after liver transplantation in humans with ornithine transcarbamylase deficiency.Adenovirus-mediated in vivo gene transfer rapidly protects ornithine transcarbamylase-deficient mice from an ammonium challenge.Ornithine carbamoyltransferase deficiency: molecular characterization of 29 families.'Late onset' ornithine transcarbamylase deficiency: function of three purified recombinant mutant enzymes.Mutant alleles associated with late-onset ornithine transcarbamylase deficiency in male patients have recurrently arisen and have been retained in some populations
P2860
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P2860
Late-onset ornithine transcarbamylase deficiency in male patients
description
1990 nî lūn-bûn
@nan
1990 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1990 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1990年の論文
@ja
1990年論文
@yue
1990年論文
@zh-hant
1990年論文
@zh-hk
1990年論文
@zh-mo
1990年論文
@zh-tw
1990年论文
@wuu
name
Late-onset ornithine transcarbamylase deficiency in male patients
@ast
Late-onset ornithine transcarbamylase deficiency in male patients
@en
Late-onset ornithine transcarbamylase deficiency in male patients
@nl
type
label
Late-onset ornithine transcarbamylase deficiency in male patients
@ast
Late-onset ornithine transcarbamylase deficiency in male patients
@en
Late-onset ornithine transcarbamylase deficiency in male patients
@nl
prefLabel
Late-onset ornithine transcarbamylase deficiency in male patients
@ast
Late-onset ornithine transcarbamylase deficiency in male patients
@en
Late-onset ornithine transcarbamylase deficiency in male patients
@nl
P2093
P1476
Late-onset ornithine transcarbamylase deficiency in male patients
@en
P2093
C O Leonard
E R Hauser
J E Finkelstein
S W Brusilow
P304
P356
10.1016/S0022-3476(05)80129-5
P407
P577
1990-12-01T00:00:00Z