Medium chain acyl-CoA dehydrogenase deficiency in Pennsylvania: neonatal screening shows high incidence and unexpected mutation frequencies.
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Functional effects of different medium-chain acyl-CoA dehydrogenase genotypes and identification of asymptomatic variantsPrinciples and applications of liquid chromatography-mass spectrometry in clinical biochemistryImpact of fatty acid oxidation disorders in child neurology: from Reye syndrome to Pandora's boxEvaluation of newborn screening for medium chain acyl-CoA dehydrogenase deficiency in 275 000 babiesMedium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that resFunctional studies of 18 heterologously expressed medium-chain acyl-CoA dehydrogenase (MCAD) variants.The first three years of screening for medium chain acyl-CoA dehydrogenase deficiency (MCADD) by newborn screening ontario.Inborn errors of mitochondrial fatty acid oxidation.Incidence and patterns of inborn errors of metabolism in the Eastern Province of Saudi Arabia, 1983-2008A public health response to emerging technology: expansion of the Massachusetts newborn screening programPlasma fatty acids as diagnostic markers in autistic patients from Saudi Arabia.Screening for medium chain acyl-CoA dehydrogenase deficiency using electrospray ionisation tandem mass spectrometry.History and current status of newborn screening for severe combined immunodeficiency.Medium-Chain Acyl-CoA Dehydrogenase Deficiency: Evaluation of Genotype-Phenotype Correlation in Patients Detected by Newborn ScreeningDetection of Inborn Errors of Metabolism using Tandem Mass Spectrometry among High-risk Omani PatientsThe epidemiology of medium chain acyl-CoA dehydrogenase deficiency: an update.The health system impact of false positive newborn screening results for medium-chain acyl-CoA dehydrogenase deficiency: a cohort study.Economics of tandem mass spectrometry screening of neonatal inherited disorders.Selective Screening for Metabolic Disorders in the Slovenian Pediatric Population.Newborn screening for lysosomal storage disorders.L-Carnitine.Prospective surveillance study of medium chain acyl-CoA dehydrogenase deficiency in the UK.Outcome of medium chain acyl-CoA dehydrogenase deficiency after diagnosis.A survey of the newborn populations in Belgium, Germany, Poland, Czech Republic, Hungary, Bulgaria, Spain, Turkey, and Japan for the G985 variant allele with haplotype analysis at the medium chain Acyl-CoA dehydrogenase gene locus: clinical and evolMutations causing profound biotinidase deficiency in children ascertained by newborn screening in the United States occur at different frequencies than in symptomatic children.Automated tandem mass spectrometry for mass newborn screening for disorders in fatty acid, organic acid, and amino acid metabolism.Medium-Chain Acyl CoA Dehydrogenase: Evidence for Phosphorylation
P2860
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P2860
Medium chain acyl-CoA dehydrogenase deficiency in Pennsylvania: neonatal screening shows high incidence and unexpected mutation frequencies.
description
1995 nî lūn-bûn
@nan
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
1995年论文
@zh
1995年论文
@zh-cn
name
Medium chain acyl-CoA dehydrog ...... expected mutation frequencies.
@en
Medium chain acyl-CoA dehydrog ...... expected mutation frequencies.
@nl
type
label
Medium chain acyl-CoA dehydrog ...... expected mutation frequencies.
@en
Medium chain acyl-CoA dehydrog ...... expected mutation frequencies.
@nl
prefLabel
Medium chain acyl-CoA dehydrog ...... expected mutation frequencies.
@en
Medium chain acyl-CoA dehydrog ...... expected mutation frequencies.
@nl
P2093
P1433
P1476
Medium chain acyl-CoA dehydrog ...... expected mutation frequencies.
@en
P2093
Brackett JC
Finegold DN
Hoffman EP
Strauss AW
P304
P356
10.1203/00006450-199505000-00021
P407
P577
1995-05-01T00:00:00Z
P5875
P6179
1013165939