Application of tandem mass spectrometry to biochemical genetics and newborn screening (Q34726413)

4 August 2017

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title

Application of tandem mass spectrometry to biochemical genetics and newborn screening (English)

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4 August 2017

Kevin H Carpenter

1

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PubMed ID

12104075

4 August 2017

Veronica Wiley

series ordinal

2

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4 August 2017

1 August 2002

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4 August 2017

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4 August 2017

322

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4 August 2017

1-2

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4 August 2017

1-10

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Suberylglycine excretion in the urine from a patient with dicarboxylic aciduria

4 August 2017

1 reference

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Stable isotope dilution analysis of very long chain fatty acids in plasma, urine and amniotic fluid by electron capture negative ion mass fragmentography

7 January 2021

1 reference

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Diagnosis of Smith-Lemli-Opitz syndrome by gas chromatography/mass spectrometry of 7-dehydrocholesterol in plasma, amniotic fluid and cultured skin fibroblasts

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-8981%2802%2900135-3

7 January 2021

Tandem mass spectrometry

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https://api.crossref.org/works/10.1016%2FS0009-8981%2802%2900135-3

Urinary excretion of l-carnitine and acylcarnitines by patients with disorders of organic acid metabolism: evidence for secondary insufficiency of l-carnitine

7 January 2021

1 reference

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Application of fast atom bombardment with tandem mass spectrometry and liquid chromatography/mass spectrometry to the analysis of acylcarnitines in human urine, blood, and tissue

7 January 2021

1 reference

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Tandem mass spectrometry: a new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism

7 January 2021

1 reference

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Valproylcarnitine: a novel drug metabolite identified by fast atom bombardment and thermospray liquid chromatography-mass spectrometry

7 January 2021

1 reference

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Quantitative assay of free and total carnitine using tandem mass spectrometry

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-8981%2802%2900135-3

Determination of plasma free carnitine by electrospray tandem mass spectrometry

7 January 2021

1 reference

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Rapid diagnosis of organic acidemias and fatty-acid oxidation defects by quantitative electrospray tandem-MS acyl-carnitine analysis in plasma

7 January 2021

1 reference

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Quantitative plasma acylcarnitine analysis using electrospray tandem mass spectrometry for the diagnosis of organic acidaemias and fatty acid oxidation defects

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-8981%2802%2900135-3

Prenatal diagnosis of organic acidemias based on amniotic fluid levels of acylcarnitines

7 January 2021

1 reference

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Inaccurate measurement of free carnitine by the electrospray tandem mass spectrometry screening method for blood spots

7 January 2021

1 reference

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Detection of gene defects in branched-chain amino acid metabolism by tandem mass spectrometry of carnitine esters produced by cultured fibroblasts

7 January 2021

1 reference

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Investigation of beta-oxidation intermediates in normal and MCAD-deficient human fibroblasts using tandem mass spectrometry

7 January 2021

1 reference

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Recent developments in the investigation of inherited metabolic disorders using cultured human cells

7 January 2021

1 reference

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Quantitative acylcarnitine profiling in fibroblasts using [U-13C] palmitic acid: an improved tool for the diagnosis of fatty acid oxidation defects

7 January 2021

1 reference

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Studies on the oxidation of phytanic acid and pristanic acid in human fibroblasts by acylcarnitine analysis

7 January 2021

1 reference

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Prenatal diagnosis of mitochondrial fatty acid oxidation defects

7 January 2021

1 reference

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Determination of plasma amino acids by gas chromatography

7 January 2021

1 reference

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Separation of free amino acids in human plasma by capillary electrophoresis with laser induced fluorescence: potential for emergency diagnosis of inborn errors of metabolism.

7 January 2021

1 reference

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Plasma amino acid quantitation using gas chromatography chemical ionization mass spectrometry and 13C amino acids as internal standards

7 January 2021

1 reference

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Optimization of a capillary electrophoresis-electrospray mass spectrometry method for the quantitation of the 20 natural amino acids in childrens blood

7 January 2021

1 reference

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Diagnosis of inborn errors of metabolism from blood spots by acylcarnitines and amino acids profiling using automated electrospray tandem mass spectrometry

7 January 2021

1 reference

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Application of electrospray tandem mass spectrometry to neonatal screening

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-8981%2802%2900135-3

Detection of neonatal carnitine palmitoyltransferase II deficiency by expanded newborn screening with tandem mass spectrometry

7 January 2021

1 reference

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Carnitine transporter defect diagnosed by newborn screening with electrospray tandem mass spectrometry

7 January 2021

1 reference

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Diagnosis of very long chain acyl-dehydrogenase deficiency from an infant's newborn screening card

7 January 2021

1 reference

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Glutaric acidemia, type I, missed by newborn screening in an infant with dystonia following promethazine administration

7 January 2021

1 reference

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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

7 January 2021

1 reference

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The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism

7 January 2021

1 reference

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3-Methylcrotonyl-coenzyme A carboxylase deficiency in Amish/Mennonite adults identified by detection of increased acylcarnitines in blood spots of their children.

7 January 2021

1 reference

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Holocarboxylase synthetase deficiency: urinary metabolites masked by gross ketosis

7 January 2021

1 reference

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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

7 January 2021

1 reference

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Diagnosis of isovaleric acidaemia by tandem mass spectrometry: false positive result due to pivaloylcarnitine in a newborn screening programme

7 January 2021

1 reference

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Screening of newborn infants for cholestatic hepatobiliary disease with tandem mass spectrometry

7 January 2021

1 reference

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Dimethylaminoethyl esters for trace, rapid analysis of fatty acids by electrospray tandem mass spectrometry

7 January 2021

1 reference

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A rapid screening procedure for the diagnosis of peroxisomal disorders: quantification of very long-chain fatty acids, as dimethylaminoethyl esters, in plasma and blood spots, by electrospray tandem mass spectrometry

7 January 2021

1 reference

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Alkyldimethylaminoethyl ester iodides for improved analysis of fatty acids by electrospray ionization tandem mass spectrometry

7 January 2021

1 reference

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Analysis of plasmenylethanolamines using electrospray tandem mass spectrometry and its application in screening for peroxisomal disorders

7 January 2021

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Experience with a simple high-performance liquid chromatography method for the analysis of purine and pyrimidine nucleosides and bases in biological fluids

7 January 2021

1 reference

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Characterization of urinary sulfatides in metachromatic leukodystrophy using electrospray ionization-tandem mass spectrometry

7 January 2021

1 reference

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Analysis of guanidinoacetate and creatine by isotope dilution electrospray tandem mass spectrometry

7 January 2021

1 reference

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Newborn screening with tandem mass spectrometry: 12 months' experience in NSW Australia

7 January 2021

1 reference

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inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1016/S0009-8981(02)00135-3

1 reference

4 August 2017

1 reference

PubMed ID

12104075