Screening newborns for inborn errors of metabolism by tandem mass spectrometry.
about
Tissue-specific strategies of the very-long chain acyl-CoA dehydrogenase-deficient (VLCAD-/-) mouse to compensate a defective fatty acid β-oxidationCarnitine supplementation for inborn errors of metabolismCarnitine supplementation for inborn errors of metabolismIminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transportersIsolated 3-methylcrotonyl-CoA carboxylase deficiency: evidence for an allele-specific dominant negative effect and responsiveness to biotin therapyTranslational biomarker discovery in clinical metabolomics: an introductory tutorialFetal fatty acid oxidation disorders, their effect on maternal health and neonatal outcome: impact of expanded newborn screening on their diagnosis and managementPrinciples and applications of liquid chromatography-mass spectrometry in clinical biochemistryCombined defects in oxidative phosphorylation and fatty acid β-oxidation in mitochondrial diseaseNewborn bloodspot screening policy framework for AustraliaThe Human Genome Project, and recent advances in personalized genomicsThe evolution of blood-spot newborn screeningMitochondrial dysfunction in fatty acid oxidation disorders: insights from human and animal studiesNatural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiencyRole of vitamin B12 on methylmalonyl-CoA mutase activityShort-chain acyl-coenzyme A dehydrogenase deficiencyBeneficial metabolic effects of 2',3',5'-tri-acetyl-N6- (3-hydroxylaniline) adenosine in the liver and plasma of hyperlipidemic hamstersA knock-out mouse model for methylmalonic aciduria resulting in neonatal lethalityAcute Fatty Liver Disease of Pregnancy: Updates in Pathogenesis, Diagnosis, and Management.Biomarker discovery, disease classification, and similarity query processing on high-throughput MS/MS data of inborn errors of metabolism.Dynamic simulations on the mitochondrial fatty acid beta-oxidation network.Multi-site assessment of the precision and reproducibility of multiple reaction monitoring-based measurements of proteins in plasma.Efficacy of screening immune system function in at-risk newborns.Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte.Incidence and patterns of inborn errors of metabolism in the Eastern Province of Saudi Arabia, 1983-2008Biochemical correction of short-chain acyl-coenzyme A dehydrogenase deficiency after portal vein injection of rAAV8-SCAD.Diagnosis and management of glutaric aciduria type I--revised recommendations.Mass-spectrometry-based clinical proteomics--a review and prospective.Improvement of derivatized amino acid detection sensitivity in micellar electrokinetic capillary chromatography by means of acid-induced pH-mediated stacking technique.Cost-effectiveness analysis of universal newborn screening for medium chain acyl-CoA dehydrogenase deficiency in France.The evolution of neonatology.Birth Prevalence of Fatty Acid β-Oxidation Disorders in Iberia.BOD1 Is Required for Cognitive Function in Humans and Drosophila.Newborn Sequencing in Genomic Medicine and Public Health.Newborn screening for citrin deficiency and carnitine uptake defect using second-tier molecular testsHigh incidence of later-onset fabry disease revealed by newborn screeningMetabolic fingerprinting as a diagnostic tool.Matrix-assisted laser desorption/ionization for simultaneous quantitation of (acyl-)carnitines and organic acids in dried blood spots.Recombinant adeno-associated virus-mediated gene delivery of long chain acyl coenzyme A dehydrogenase (LCAD) into LCAD-deficient miceExploring existing and deliberated community perspectives of newborn screening: informing the development of state and national policy standards in newborn screening and the use of dried blood spots.
P2860
Q21134044-9396EEB1-E493-4218-8C94-1121D80FD790Q24203696-70578707-95C8-4286-BE5A-2CC1EB221CD9Q24241783-8D667BA5-7DB4-48BC-9A9C-3D2EFD5CFE77Q24317890-25ED4373-B08E-4859-BBED-F6711F3532D1Q24534070-B44EDECA-1257-4025-B6C4-6B26D123099EQ24598642-D2169F3E-2053-4934-8569-84E4C6620721Q24616340-2703D267-C43A-4F31-BAC6-6A081970E8DEQ24653004-325EE721-DA6D-464B-8A30-9218805CA22EQ26770152-D0ABDA02-A84A-4B25-B25E-8B342B227824Q26783485-F51BBE39-3826-4903-A521-5218A2C57140Q26861372-C4935557-ED0A-4911-B76F-525F0D85DC66Q27023046-44F913FC-4FCC-4C37-B92D-3AEEAB93562BQ28085600-1E78CE99-9FAE-4610-9CCD-E6163351596BQ28236716-C5567B8B-D163-4DC2-82C6-39C2734A8851Q28267976-FD68F259-DB89-4964-8C97-BEEEB53AFE43Q28299438-9792F111-4B3C-4A7D-8425-3ACE0B0111C6Q28481695-09A57A83-5186-471B-B451-4992F141E7BBQ28594180-810DE077-06D3-414A-8F22-4DA55C4223E5Q30235293-9F0E1AC9-3179-4704-B450-14AEEE581556Q33228024-9FA80727-2D9E-4493-8E2D-2D232177F799Q33397846-8F761CDD-D4C3-4256-819B-C1C0903C44B9Q33794491-66854864-D5B4-41E7-BE10-AD1E8C5DD9B8Q34024745-EF8B0715-B0E0-49AF-88F6-BF4972156ACFQ34038698-5C6C017A-7CC6-499A-B146-53508FD1A999Q34099238-A6966CE7-AF78-411C-A04E-BE04FE86711AQ34132611-B544799F-D6CC-4EEC-AD8F-B56E59CBFE3DQ34172908-E4D2D5F8-032E-4ACE-A24D-B65541655792Q34252113-B6A9DE20-3E23-4654-856D-ABD0AFA463E3Q34277741-0A5FA750-7AB5-4BA5-A4B2-DE83E3D71F63Q34297808-D0D0E389-40DE-4398-B2B9-6B225625B825Q34395577-F0C9DD6E-A0EA-416D-BC33-0048B9C04E56Q34457697-E89C4D3E-9745-4538-9638-57A2358136FDQ34526053-2481ACE6-1A4B-4181-A43B-0B6A51667CF0Q34549504-2470C33C-424B-4460-A023-BB280F835B39Q34581240-5CBDB39E-C316-4177-AAF6-292C65E3AF90Q34658483-D8E21D5D-8DE6-4E7B-94D1-B48FB4D654E8Q34699756-9C956BA6-B5DA-4F02-B134-663671B38C8EQ34748605-5BD17770-50A8-4D39-A409-0CEE44CD3CB2Q35055915-5DFD4382-2280-412C-A047-86D39F2175A0Q35238285-ABEFB5CC-C8F9-42F2-A153-BB4F1A3393F4
P2860
Screening newborns for inborn errors of metabolism by tandem mass spectrometry.
description
2003 nî lūn-bûn
@nan
2003年の論文
@ja
2003年学术文章
@wuu
2003年学术文章
@zh-cn
2003年学术文章
@zh-hans
2003年学术文章
@zh-my
2003年学术文章
@zh-sg
2003年學術文章
@yue
2003年學術文章
@zh
2003年學術文章
@zh-hant
name
Screening newborns for inborn errors of metabolism by tandem mass spectrometry.
@en
Screening newborns for inborn errors of metabolism by tandem mass spectrometry.
@nl
type
label
Screening newborns for inborn errors of metabolism by tandem mass spectrometry.
@en
Screening newborns for inborn errors of metabolism by tandem mass spectrometry.
@nl
prefLabel
Screening newborns for inborn errors of metabolism by tandem mass spectrometry.
@en
Screening newborns for inborn errors of metabolism by tandem mass spectrometry.
@nl
P2093
P356
P1476
Screening newborns for inborn errors of metabolism by tandem mass spectrometry.
@en
P2093
Bridget Wilcken
Judith Hammond
Kevin Carpenter
Veronica Wiley
P304
P356
10.1056/NEJMOA025225
P407
P577
2003-06-01T00:00:00Z