Sensitivity and specificity of free and total glutaric acid and 3-hydroxyglutaric acid measurements by stable-isotope dilution assays for the diagnosis of glutaric aciduria type I
about
Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiencyExtrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity.Diagnosis and management of glutaric aciduria type I--revised recommendations.Pathomechanisms of neurodegeneration in glutaryl-CoA dehydrogenase deficiency.Glutaric Acidemia Type 1-Clinico-Molecular Profile and Novel Mutations in GCDH Gene in Indian Patients.A cross-sectional controlled developmental study of neuropsychological functions in patients with glutaric aciduria type I.Glutaric aciduria type I: A treatable neurometabolic disorder.Sodium-coupled dicarboxylate and citrate transporters from the SLC13 family.Detection of glutaric acidemia type 1 in infants through tandem mass spectrometry.Genotype-phenotype correlation in 18 Egyptian patients with glutaric acidemia type I.New insights into the causes of human illness due to consumption of azaspiracid contaminated shellfish.Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision.Disease-causing mutations affecting surface residues of mitochondrial glutaryl-CoA dehydrogenase impair stability, heteromeric complex formation and mitochondria architecture.Neurotoxic effects of trans-glutaconic acid in rats.Glutaric Aciduria Type 1 and Acute Renal Failure: Case Report and Suggested Pathomechanisms.Clinical and Mutational Analysis of the GCDH Gene in Malaysian Patients with Glutaric Aciduria Type 1.The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.Low lysine diet in glutaric aciduria type I--effect on anthropometric and biochemical follow-up parameters.Differential interaction of dicarboxylates with human sodium-dicarboxylate cotransporter 3 and organic anion transporters 1 and 3.Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I.Quantitative acylcarnitine profiling in peripheral blood mononuclear cells using in vitro loading with palmitic and 2-oxoadipic acids: biochemical confirmation of fatty acid oxidation and organic acid disorders.Decline of acute encephalopathic crises in children with glutaryl-CoA dehydrogenase deficiency identified by newborn screening in Germany.(1)H-MRS in glutaric aciduria type 1: impact of biochemical phenotype and age on the cerebral accumulation of neurotoxic metabolites.Severe neurological manifestations in an Egyptian patient with a novel frameshift mutation in the Glutaryl-CoA dehydrogenase gene.Organic acidurias in adults: late complications and management.Cerebral Organic Acid Disorders and Other Disorders of Lysine Catabolism
P2860
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P2860
Sensitivity and specificity of free and total glutaric acid and 3-hydroxyglutaric acid measurements by stable-isotope dilution assays for the diagnosis of glutaric aciduria type I
description
1999 nî lūn-bûn
@nan
1999 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年学术文章
@wuu
1999年学术文章
@zh-cn
1999年学术文章
@zh-hans
1999年学术文章
@zh-my
1999年学术文章
@zh-sg
1999年學術文章
@yue
name
Sensitivity and specificity of ...... is of glutaric aciduria type I
@ast
Sensitivity and specificity of ...... is of glutaric aciduria type I
@en
Sensitivity and specificity of ...... is of glutaric aciduria type I
@nl
type
label
Sensitivity and specificity of ...... is of glutaric aciduria type I
@ast
Sensitivity and specificity of ...... is of glutaric aciduria type I
@en
Sensitivity and specificity of ...... is of glutaric aciduria type I
@nl
prefLabel
Sensitivity and specificity of ...... is of glutaric aciduria type I
@ast
Sensitivity and specificity of ...... is of glutaric aciduria type I
@en
Sensitivity and specificity of ...... is of glutaric aciduria type I
@nl
P2093
P3181
P356
P1476
Sensitivity and specificity of ...... is of glutaric aciduria type I
@en
P2093
P2888
P304
P3181
P356
10.1023/A:1005683222187
P407
P577
1999-12-01T00:00:00Z
P6179
1006833641