N-carbamylglutamate in emergency management of hyperammonemia in neonatal acute onset propionic and methylmalonic aciduria.

N-carbamylglutamate in emergency management of hyperammonemia in neonatal acute onset propionic and methylmalonic aciduria.

Item
http://www.wikidata.org/entity/Q43249006
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemiaN-carbamylglutamate augments ureagenesis and reduces ammonia and glutamine in propionic acidemia.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.Stable isotopes in the diagnosis and treatment of inherited hyperammonemiaNew developments in the treatment of hyperammonemia: emerging use of carglumic acid.Hyperammonemia in review: pathophysiology, diagnosis, and treatment.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.Methylmalonic and propionic acidemias: clinical management update.Targeting CPS1 in the treatment of Carbamoyl phosphate synthetase 1 (CPS1) deficiency, a urea cycle disorder.Clinical experience with N-carbamylglutamate in a single-centre cohort of patients with propionic and methylmalonic aciduria.Nutritional and Pharmacological Management during Chemotherapy in a Patient with Propionic Acidaemia and Rhabdomyosarcoma Botryoides.First report of carglumic acid in a patient with citrullinemia type 1 (argininosuccinate synthetase deficiency).Precision medicine in rare disease: Mechanisms of disparate effects of N-carbamyl-l-glutamate on mutant CPS1 enzymes.Long-term continuous N-carbamylglutamate treatment in frequently decompensated propionic acidemia: a case report.Effect of carglumic acid with or without ammonia scavengers on hyperammonaemia in acute decompensation episodes of organic acidurias.
P2860

N-carbamylglutamate in emergency management of hyperammonemia in neonatal acute onset propionic and methylmalonic aciduria.

Item
http://www.wikidata.org/entity/Q43249006
description
2009 nî lūn-bûn
@nan
2009年の論文
@ja
2009年学术文章
@wuu
2009年学术文章
@zh
2009年学术文章
@zh-cn
2009年学术文章
@zh-hans
2009年学术文章
@zh-my
2009年学术文章
@zh-sg
2009年學術文章
@yue
2009年學術文章
@zh-hant
name
N-carbamylglutamate in emergen ...... ic and methylmalonic aciduria.
@en
N-carbamylglutamate in emergen ...... ic and methylmalonic aciduria.
@nl
type
label
N-carbamylglutamate in emergen ...... ic and methylmalonic aciduria.
@en
N-carbamylglutamate in emergen ...... ic and methylmalonic aciduria.
@nl
prefLabel
N-carbamylglutamate in emergen ...... ic and methylmalonic aciduria.
@en
N-carbamylglutamate in emergen ...... ic and methylmalonic aciduria.
@nl
P1433
P1476
P2093
P304
P31
P356
P407
P433
P478
P50
P577
P698
P356
P1433
P1476
N-carbamylglutamate in emergen ...... nic and methylmalonic aciduria
@en
P2093
P304
P31
P356
P407
P433
P478
P50
P577
P698