about
Suggested guidelines for the diagnosis and management of urea cycle disordersToward a theory of childhood learning disorders, hyperactivity, and aggressionAmmonia toxicity to the brain.Magnetic resonance imaging findings and neurodevelopmental outcomes in neonates with urea-cycle defects.Glutamate and glutamine: a review of in vivo MRS in the human brainNew frontiers in neuroimaging applications to inborn errors of metabolism.Down-regulation of hepatic urea synthesis by oxypurines: xanthine and uric acid inhibit N-acetylglutamate synthaseKlf15 orchestrates circadian nitrogen homeostasis.Molecular regulation of urea cycle function by the liver glucocorticoid receptorSodium Benzoate, a Metabolite of Cinnamon and a Food Additive, Upregulates Ciliary Neurotrophic Factor in Astrocytes and Oligodendrocytes.Guidelines for acute management of hyperammonemia in the Middle East region.PGC-1α Promotes Ureagenesis in Mouse Periportal Hepatocytes through SIRT3 and SIRT5 in Response to GlucagonEffects of a glucokinase activator on hepatic intermediary metabolism: study with 13C-isotopomer-based metabolomics.Cross-sectional multicenter study of patients with urea cycle disorders in the United StatesQuantitative RT-PCR comparison of the urea and nitric oxide cycle gene transcripts in adult human tissues.Clinical course of 63 patients with neonatal onset urea cycle disorders in the years 2001-2013.Achieving the "triple aim" for inborn errors of metabolism: a review of challenges to outcomes research and presentation of a new practice-based evidence framework.Intellectual, adaptive, and behavioral functioning in children with urea cycle disorders.Parent perspectives on decisions to participate in a phase I hepatocyte transplant trial.Urea Cycle Defects: Early-Onset Disease Associated with A208T Mutation in OTC Gene-Expanding the Clinical Phenotype.Hyperammonemia in review: pathophysiology, diagnosis, and treatment.Epilepsy in children--when should we think neurometabolic disease?The neuropsychiatry of inborn errors of metabolism.Hyperargininemia due to arginase I deficiency: the original patients and their natural history, and a review of the literature.The Measurement of Ammonia in Human Breath and its Potential in Clinical Diagnostics.Amino Acid Catabolism in Alzheimer's Disease Brain: Friend or Foe?Urea cycle disorder misdiagnosed as multiple sclerosis: a case report and review of the literature.Behavioural and emotional problems, intellectual impairment and health-related quality of life in patients with organic acidurias and urea cycle disorders.The protective effect of sodium benzoate on aluminum toxicity in PC12 cell line.Sodium Benzoate, a Food Additive and a Metabolite of Cinnamon, Enriches Regulatory T Cells via STAT6-Mediated Upregulation of TGF-βLipopolysaccharide impairs hepatocyte ureagenesis from ammonia: involvement of mitochondrial aquaporin-8.Ammonia detoxification via ureagenesis in rat hepatocytes involves mitochondrial aquaporin-8 channels.Neuropsychiatric manifestations in late-onset urea cycle disorder patients.A novel mutation of the ornithine transcarbamylase gene leading to fatal hyperammonemia in a liver transplant recipient.Normal Neurological Development During Infancy Despite Massive Hyperammonemia in Early Treated NAGS Deficiency.Brain urea increase is an early Huntington's disease pathogenic event observed in a prodromal transgenic sheep model and HD cases.Carbamoyl phosphate synthetase 1 deficiency diagnosed by whole exome sequencing.A biphasic dialytic strategy for the treatment of neonatal hyperammonemia.Hyperammonemia in ornithine transcarbamylase-deficient recipients following living donor liver transplantation from heterozygous carrier donors.Research, diagnosis and education in inborn errors of metabolism in Colombia: 20 years' experience from a reference center
P2860
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P2860
description
2007 nî lūn-bûn
@nan
2007 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
name
Neurological implications of urea cycle disorders
@ast
Neurological implications of urea cycle disorders
@en
type
label
Neurological implications of urea cycle disorders
@ast
Neurological implications of urea cycle disorders
@en
prefLabel
Neurological implications of urea cycle disorders
@ast
Neurological implications of urea cycle disorders
@en
P2860
P1476
Neurological implications of urea cycle disorders
@en
P2093
A L Gropman
J V Leonard
P2860
P2888
P304
P356
10.1007/S10545-007-0709-5
P577
2007-11-23T00:00:00Z
P6179
1047874507