In vivo nitrogen metabolism in ornithine transcarbamylase deficiency.
about
Suggested guidelines for the diagnosis and management of urea cycle disordersBrain imaging in urea cycle disordersAAV2/8-mediated correction of OTC deficiency is robust in adult but not neonatal Spf(ash) mice.Measuring in vivo ureagenesis with stable isotopesUses of stable isotopes in clinical diagnosis and research in the paediatric population.N-carbamylglutamate markedly enhances ureagenesis in N-acetylglutamate deficiency and propionic acidemia as measured by isotopic incorporation and blood biomarkers.In vivo urea cycle flux distinguishes and correlates with phenotypic severity in disorders of the urea cycle.1H MRS allows brain phenotype differentiation in sisters with late onset ornithine transcarbamylase deficiency (OTCD) and discordant clinical presentations.Effects of a single dose of N-carbamylglutamate on the rate of ureagenesis.Stable isotopes in the diagnosis and treatment of inherited hyperammonemiaConcise review: cell therapies for hereditary metabolic liver diseases-concepts, clinical results, and future developments.Targeting CPS1 in the treatment of Carbamoyl phosphate synthetase 1 (CPS1) deficiency, a urea cycle disorder.Correction of ureagenesis after gene transfer in an animal model and after liver transplantation in humans with ornithine transcarbamylase deficiency.Genotype spectrum of ornithine transcarbamylase deficiency: correlation with the clinical and biochemical phenotype.Reduced citrulline availability by OTC deficiency in mice is related to reduced nitric oxide production.Studies of hepatic glutamine metabolism in the perfused rat liver with (15)N-labeled glutamine.
P2860
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P2860
In vivo nitrogen metabolism in ornithine transcarbamylase deficiency.
description
1996 nî lūn-bûn
@nan
1996年の論文
@ja
1996年学术文章
@wuu
1996年学术文章
@zh-cn
1996年学术文章
@zh-hans
1996年学术文章
@zh-my
1996年学术文章
@zh-sg
1996年學術文章
@yue
1996年學術文章
@zh
1996年學術文章
@zh-hant
name
In vivo nitrogen metabolism in ornithine transcarbamylase deficiency.
@en
In vivo nitrogen metabolism in ornithine transcarbamylase deficiency.
@nl
type
label
In vivo nitrogen metabolism in ornithine transcarbamylase deficiency.
@en
In vivo nitrogen metabolism in ornithine transcarbamylase deficiency.
@nl
prefLabel
In vivo nitrogen metabolism in ornithine transcarbamylase deficiency.
@en
In vivo nitrogen metabolism in ornithine transcarbamylase deficiency.
@nl
P2093
P2860
P356
P1476
In vivo nitrogen metabolism in ornithine transcarbamylase deficiency.
@en
P2093
P2860
P304
P356
10.1172/JCI119023
P407
P577
1996-11-01T00:00:00Z