Clinical, biochemical, and molecular spectrum of hyperargininemia due to arginase I deficiency
about
Suggested guidelines for the diagnosis and management of urea cycle disordersAmmonia toxicity to the brain.Arginase I deficiency: severe infantile presentation with hyperammonemia: more common than reported?Argininemia as a cause of severe chronic stunting in a low-resource developing country setting: a case report.Urinary 2-hydroxy-5-oxoproline, the lactam form of α-ketoglutaramate, is markedly increased in urea cycle disorders.Hyperargininemia: a family with a novel mutation in an unexpected site.Liver transplantation prevents progressive neurological impairment in argininemiaDiffusion tensor imaging in arginase deficiency reveals damage to corticospinal tracts.Newborn screening for inborn errors of metabolism and endocrinopathies: an update.Inborn errors of metabolism and motor disturbances in children.Hyperargininemia due to arginase I deficiency: the original patients and their natural history, and a review of the literature.Arginase-1 deficiency.L-Arginine in the treatment of valproate overdose - five clinical cases.Hyperargininemia and renal oxidative stress: Prevention by antioxidants and NG -nitro-l-arginine methyl ester.L-arginine and Alzheimer's disease.Case Report of Argininemia: The Utility of the Arginine/Ornithine Ratio for Newborn Screening (NBS).Neuroimaging findings in hyperargininemia.Four years of expanded newborn screening in Portugal with tandem mass spectrometry.Early-onset hyperargininaemia: a severe disorder?Amino acids in CSF and plasma in hyperammonaemic coma due to arginase1 deficiency.Ablation of Arginase II Spares Arginine and Abolishes the Arginine Requirement for Growth in Male Mice.A Case of Hyperargininaemia Presenting at Unusually Low Age.Brain MRI and magnetic resonance spectroscopy findings in patients with hyperargininemia.Anesthesia in a patient with arginase deficiency: implications and management.Argininemia as a cause of severe chronic stunting and partial growth hormone deficiency (PGHD): A case report.Liver involvement in urea cycle disorders: a review of the literature.Distinct roles of arginases 1 and 2 in diabetic nephropathy.Neonatal cholestasis: an uncommon presentation of hyperargininemia.A case report of neurological complications owing to lately diagnosed hyperargininemia emphasizing the role of national neonatal screening policies in the kingdom of Bahrain.
P2860
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P2860
Clinical, biochemical, and molecular spectrum of hyperargininemia due to arginase I deficiency
description
2006 nî lūn-bûn
@nan
2006 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
Clinical, biochemical, and mol ...... a due to arginase I deficiency
@ast
Clinical, biochemical, and mol ...... a due to arginase I deficiency
@en
type
label
Clinical, biochemical, and mol ...... a due to arginase I deficiency
@ast
Clinical, biochemical, and mol ...... a due to arginase I deficiency
@en
prefLabel
Clinical, biochemical, and mol ...... a due to arginase I deficiency
@ast
Clinical, biochemical, and mol ...... a due to arginase I deficiency
@en
P2860
P356
P1476
Clinical, biochemical, and mol ...... a due to arginase I deficiency
@en
P2093
Brendan Lee
Fernando Scaglia
P2860
P304
P356
10.1002/AJMG.C.30091
P577
2006-05-01T00:00:00Z