N-carbamylglutamate augments ureagenesis and reduces ammonia and glutamine in propionic acidemia.
about
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemiaRecapitulation of metabolic defects in a model of propionic acidemia using patient-derived primary hepatocytesAugmenting ureagenesis in patients with partial carbamyl phosphate synthetase 1 deficiency with N-carbamyl-L-glutamateRecurrent encephalopathy: NAGS (N-acetylglutamate synthase) deficiency in adults.Acute management of propionic acidemia.Long-term sex-biased correction of circulating propionic acidemia disease markers by adeno-associated virus vectors.Carglumic acid enhances rapid ammonia detoxification in classical organic acidurias with a favourable risk-benefit profile: a retrospective observational studyN-acetylglutamate synthase deficiency: an insight into the genetics, epidemiology, pathophysiology, and treatment.N-carbamylglutamate enhancement of ureagenesis leads to discovery of a novel deleterious mutation in a newly defined enhancer of the NAGS gene and to effective therapy.New developments in the treatment of hyperammonemia: emerging use of carglumic acid.Role of carglumic acid in the treatment of acute hyperammonemia due to N-acetylglutamate synthase deficiencyShort-term outcome of propionic aciduria treated at presentation with N-carbamylglutamate: a retrospective review of four patients.Concise review: cell therapies for hereditary metabolic liver diseases-concepts, clinical results, and future developments.Treatment strategies for acute metabolic disorders in neonates.Methylmalonic and propionic acidemias: clinical management update.Clinical experience with N-carbamylglutamate in a single-centre cohort of patients with propionic and methylmalonic aciduria.Potential role of N-carbamoyl glutamate in biosynthesis of arginine and its significance in production of ruminant animals.Expansion of the Phenotypic Spectrum of Propionic Acidemia with Isolated Elevated Propionylcarnitine.Nutritional and Pharmacological Management during Chemotherapy in a Patient with Propionic Acidaemia and Rhabdomyosarcoma Botryoides.Precision medicine in rare disease: Mechanisms of disparate effects of N-carbamyl-l-glutamate on mutant CPS1 enzymes.Severe renal failure and hyperammonemia in a newborn with propionic acidemia: effects of treatment on the clinical course.Effect of carglumic acid with or without ammonia scavengers on hyperammonaemia in acute decompensation episodes of organic acidurias.
P2860
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P2860
N-carbamylglutamate augments ureagenesis and reduces ammonia and glutamine in propionic acidemia.
description
2010 nî lūn-bûn
@nan
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
2010年论文
@zh
2010年论文
@zh-cn
name
N-carbamylglutamate augments u ...... utamine in propionic acidemia.
@ast
N-carbamylglutamate augments u ...... utamine in propionic acidemia.
@en
type
label
N-carbamylglutamate augments u ...... utamine in propionic acidemia.
@ast
N-carbamylglutamate augments u ...... utamine in propionic acidemia.
@en
prefLabel
N-carbamylglutamate augments u ...... utamine in propionic acidemia.
@ast
N-carbamylglutamate augments u ...... utamine in propionic acidemia.
@en
P2093
P2860
P356
P1433
P1476
N-carbamylglutamate augments u ...... utamine in propionic acidemia.
@en
P2093
Itzhak Nissim
Marc Yudkoff
Mendel Tuchman
Nicholas Ah Mew
Robert McCarter
Yevgeny Daikhin
P2860
P304
P356
10.1542/PEDS.2010-0008
P407
P577
2010-06-21T00:00:00Z