About: Rapid diagnosis of MCAD deficiency: quantitative analysis of octanoylcarnitine and other acylcarnitines in newborn blood spots by tandem mass spectrometry

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About: Rapid diagnosis of MCAD deficiency: quantitative analysis of octanoylcarnitine and other acylcarnitines in newborn blood spots by tandem mass spectrometry Goto Sponge NotDistinct Permalink

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scientific article published on 01 November 1997

Attributes	Values
rdf:type	Item
description	wetenschappelijk artikel (nl) наукова стаття, опублікована в листопаді 1997 (uk) im November 1997 veröffentlichter wissenschaftlicher Artikel (de) scientific article published on 01 November 1997 (en) artículu científicu espublizáu en payares de 1997 (ast)
publication date	wds:Q73867922-E13140E4-3B34-4CED-AEE5-3EE9D1535145
publication date	1997-11-01 00:00:00Z (xsd:dateTime)
language of work or name	wds:Q73867922-1DD6F89A-3F6D-41C6-9B12-FFD66C04258F
language of work or name	English
author name string	wds:Q73867922-30979086-B5C3-4A0F-A9CC-656F4F8AEA47 wds:Q73867922-3465DFBB-AF38-4163-A18C-64A9190AB9DE wds:Q73867922-5AEB4B44-13A5-4F5A-935A-28F97E19B209 wds:Q73867922-7F85855B-9F8E-480B-BFFD-D8A013EAA1E9
author name string	E W Naylor D H Chace J L Van Hove S L Hillman
rdfs:label	Rapid diagnosis of MCAD deficiency: quantitative analysis of octanoylcarnitine and other acylcarnitines in newborn blood spots by tandem mass spectrometry (en) Rapid diagnosis of MCAD deficiency: quantitative analysis of octanoylcarnitine and other acylcarnitines in newborn blood spots by tandem mass spectrometry (nl)
skos:prefLabel	Rapid diagnosis of MCAD deficiency: quantitative analysis of octanoylcarnitine and other acylcarnitines in newborn blood spots by tandem mass spectrometry (en) Rapid diagnosis of MCAD deficiency: quantitative analysis of octanoylcarnitine and other acylcarnitines in newborn blood spots by tandem mass spectrometry (nl)
name	Rapid diagnosis of MCAD deficiency: quantitative analysis of octanoylcarnitine and other acylcarnitines in newborn blood spots by tandem mass spectrometry (en) Rapid diagnosis of MCAD deficiency: quantitative analysis of octanoylcarnitine and other acylcarnitines in newborn blood spots by tandem mass spectrometry (nl)
title	wds:Q73867922-4FDF627C-8A68-4576-ACAF-C68082E5368B
title	Rapid diagnosis of MCAD deficiency: quantitative analysis of octanoylcarnitine and other acylcarnitines in newborn blood spots by tandem mass spectrometry (en)
page(s)	wds:Q73867922-372FF138-6B3E-4496-AA39-0A816859A63C
page(s)	2106-2113
instance of	wds:Q73867922-4CAB4240-3B01-465E-877E-2040126992AF
instance of	scholarly article
main subject	wds:Q73867922-F669B9F2-47FD-41A8-9CA0-925E094A0110 wds:Q73867922-F8178F3B-BF34-4EA3-BCA5-22CCDE5536E2
main subject	medium chain acyl-CoA dehydrogenase deficiency mass spectrometry
PubMed ID	wds:Q73867922-27B96113-DBB9-436A-A9DD-F9095A6FD3E0
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/9365395
PubMed ID	9365395
published in	wds:Q73867922-ED7EB476-5D2C-4092-B5EA-7FA0881D7B43
published in	Clinical Chemistry
issue	wds:Q73867922-053E3F83-C1A5-4FEE-86A5-F31CB5AEA005
volume	wds:Q73867922-FBB721CC-0788-479E-B36D-12BE1D276C70
issue	11
volume	43
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q73867922
is cites work of	Disorders of mitochondrial fatty acyl-CoA beta-oxidation A novel tandem mass spectrometry method for rapid confirmation of medium- and very long-chain acyl-CoA dehydrogenase deficiency in newborns Medium-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 res Loss-of-function variants influence the human serum metabolome Neonatal screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in The Netherlands: the importance of enzyme analysis to ascertain true MCAD deficiency. Characterization of carnitine and fatty acid metabolism in the long-chain acyl-CoA dehydrogenase-deficient mouse Acylcarnitines in plasma and blood spots of patients with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase defiency Cost-effectiveness analysis of universal newborn screening for medium chain acyl-CoA dehydrogenase deficiency in France Compound heterozygosity in four asymptomatic siblings with medium-chain acyl-CoA dehydrogenase deficiency Fetal fatty acid oxidation disorders, their effect on maternal health and neonatal outcome: impact of expanded newborn screening on their diagnosis and management Apelin treatment increases complete Fatty Acid oxidation, mitochondrial oxidative capacity, and biogenesis in muscle of insulin-resistant mice. Development of an assay to simultaneously measure orotic acid, amino acids, and acylcarnitines in dried blood spots Newborn screening for medium chain acyl-CoA dehydrogenase deficiency in England: prevalence, predictive value and test validity based on 1.5 million screened babies Quantitative plasma acylcarnitine analysis using electrospray tandem mass spectrometry for the diagnosis of organic acidaemias and fatty acid oxidation defects An LC-MS/MS method to quantify acylcarnitine species including isomeric and odd-numbered forms in plasma and tissues Blood acylcarnitine levels in normal newborns and heterozygotes for medium-chain acyl-CoA dehydrogenase deficiency: a relationship between genotype and biochemical phenotype? Evidence that l-Carnitine and Selenium Supplementation Reduces Oxidative Stress in Phenylketonuric Patients In vitro and in vivo consequences of variant medium-chain acyl-CoA dehydrogenase genotypes Homozygous carnitine palmitoyltransferase 1b (muscle isoform) deficiency is lethal in the mouse Investigation of inflammatory profile in MSUD patients: benefit of L-carnitine supplementation Increased oxidative stress in patients with 3-hydroxy-3-methylglutaric aciduria Loss of Adipose Fatty Acid Oxidation Does Not Potentiate Obesity at Thermoneutrality Adult carnitine palmitoyltransferase II deficiency: detection of characteristic carnitine esters in serum by tandem mass spectrometry Reference values of amino acids, acylcarnitines and succinylacetone by tandem mass spectrometry for use in newborn screening in southwest Colombia. Arguments for early screening: a clinician's perspective Newborn screening for MCAD deficiency: experience of the first three years in British Columbia, Canada. Differential mobility spectrometry (DMS) reveals the elevation of urinary acetylcarnitine in non-human primates (NHPs) exposed to radiation Isobutyryl-CoA dehydrogenase deficiency: isobutyrylglycinuria and ACAD8 gene mutations in two infants Development of urinary biomarkers for internal exposure by cesium-137 using a metabolomics approach in mice A public health response to emerging technology: expansion of the Massachusetts newborn screening program Neonatal screening of inborn errors of metabolism using tandem mass spectrometry: an evidence-based analysis Diagnosis and high incidence of hyperornithinemia-hyperammonemia-homocitrullinemia (HHH) syndrome in northern Saskatchewan L-carnitine and long-chain acylcarnitines are positively correlated with ambulatory blood pressure in humans: the SABPA study Hepatic Fatty Acid Oxidation Restrains Systemic Catabolism during Starvation. Expanded newborn screening: Lessons learned from MCAD deficiency Medium-chain acyl-CoA dehydrogenase deficiency in Saudi Arabia: incidence, genotype, and preventive implications Postmortem tandem mass spectrometry profiling for detection of infection in unexpected infant death Lipidomic profiling reveals distinct differences in plasma lipid composition in healthy, prediabetic, and type 2 diabetic individuals Clinical chemistry through Clinical Chemistry: a journal timeline. Tandem mass spectrometry--the potential Protective effect of L-carnitine on Phenylalanine-induced DNA damage. 221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative Simultaneous quantification of free fatty acids and acylcarnitines in plasma samples using dansylhydrazine labeling and liquid chromatography-triple quadrupole mass spectrometry
is cites work of	wds:Q33489532-D6275ED1-6FA6-460E-919E-6410B779DC1D wds:Q36807955-5B84D578-8582-4D9E-B0EA-1493655D9B38 wds:Q36722478-4AFFF6FD-AB23-437B-A81E-3B7AF90FDC96 wds:Q43696640-AF62E57A-382F-4028-8F69-0B2AADFD39D6 wds:Q40909680-7F4CDFCE-4120-4BAF-A1EC-AB1A35DCCC88 wds:Q88215408-730F0E56-43E3-46B4-8F6A-F61BF6CF67D1 wds:Q35736091-6124DD51-EC31-40A9-857E-ADA5730B8723 wds:Q36070853-F8B5F40B-A992-43DE-A6E5-F7A014B096EA wds:Q43079401-B67A01AA-9CEB-40E9-9C41-BF72FF4A6386 wds:Q36593955-955173A8-1646-4CEE-BAB3-4ACAEE98B861 wds:Q42134737-2731FE0F-0E11-489D-9B4B-9B0524E2E900 wds:Q46288565-DCA75467-4F02-4C67-A0DD-ADD4546518C5 wds:Q46592487-6552E543-BE2A-4259-A354-A36A3F3BA64F

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