(Q34324731)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11482732%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

review article

1 reference

title

Clinical applications of tandem mass spectrometry: ten years of diagnosis and screening for inherited metabolic diseases (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11482732%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

author name string

M S Rashed

series ordinal

1

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11482732%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

publication date

1 July 2001

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11482732%20AND%20SRC:MED&resulttype=core&format=json

Journal of Chromatography B: Biomedical Sciences and Applications

10 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11482732%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

volume

758

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11482732%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11482732%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

page(s)

27-48

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11482732%20AND%20SRC:MED&resulttype=core&format=json

Carnitine--metabolism and functions

10 November 2019

cites work

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7 January 2021

The measurement of carnitine and acyl-carnitines: application to the investigation of patients with suspected inherited disorders of mitochondrial fatty acid oxidation

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7 January 2021

Quantification of free carnitine, individual short- and medium-chain acylcarnitines, and total carnitine in plasma by high-performance liquid chromatography

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7 January 2021

Detection of inborn errors of fatty acid oxidation from acylcarnitine analysis of plasma and blood spots with the radioisotopic exchange-high-performance liquid chromatographic method.

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7 January 2021

Identification of urinary acylcarnitines using gas chromatography-mass spectrometry: preliminary clinical applications

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7 January 2021

Quantification of carnitine and specific acylcarnitines by high-performance liquid chromatography: application to normal human urine and urine from patients with methylmalonic aciduria, isovaleric acidemia or medium-chain acyl-CoA dehydrogenase defi

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Laboratory integration and utilization of tandem mass spectrometry in neonatal screening: a model for clinical mass spectrometry in the next millennium

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7 January 2021

The use of automated electrospray ionization tandem MS for the diagnosis of inborn errors of metabolism from dried blood spots

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7 January 2021

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

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7 January 2021

Application of electrospray tandem mass spectrometry to neonatal screening

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7 January 2021

Modifications in electrospray tandem mass spectrometry for a neonatal-screening pilot study in Japan

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7 January 2021

[Model project for updating neonatal screening in Bavaria: concept and initial results]

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7 January 2021

Medium chain acyl-CoA dehydrogenase deficiency in Pennsylvania: neonatal screening shows high incidence and unexpected mutation frequencies

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7 January 2021

Screening for medium chain acyl-CoA dehydrogenase deficiency using electrospray ionisation tandem mass spectrometry.

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7 January 2021

Diagnosis of medium chain acyl CoA dehydrogenase deficiency by measurement of cis-4-decenoic acid in dried blood spots

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7 January 2021

Neonatal diagnosis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and implications for newborn screening by tandem mass spectrometry

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7 January 2021

Carnitine-acylcarnitine translocase deficiency is a treatable disease

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7 January 2021

Adult carnitine palmitoyltransferase II deficiency: detection of characteristic carnitine esters in serum by tandem mass spectrometry

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7 January 2021

Death caused by perioperative fasting and sedation in a child with unrecognized very long chain acyl-coenzyme A dehydrogenase deficiency.

1 reference

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7 January 2021

Sensitivity of electrospray-tandem mass spectrometry using the phenylalanine/tyrosine-ratio for differential diagnosis of hyperphenylalaninemia in neonates

1 reference

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7 January 2021

Determination of plasma total homocysteine and cysteine using HPLC with fluorescence detection and an ammonium 7-fluoro-2, 1, 3-benzoxadiazole-4-sulphonate (SBD-F) derivatization protocol optimized for antioxidant concentration, derivatization reage

1 reference

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7 January 2021

Development of a method for rapid quantitation of amino acids by liquid chromatography-tandem mass spectrometry (LC-MSMS) in plasma

1 reference

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7 January 2021

N-Acylglycine Amidation: Implications for the Biosynthesis of Fatty Acid Primary Amides†

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7 January 2021

The specificity of glycine-N-acylase and acylglycine excretion in the organicacidaemias

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7 January 2021

Stable isotope dilution analysis of n-hexanoylglycine, 3-phenylpropionylglycine and suberylglycine in human urine using chemical ionization gas chromatography/mass spectrometry selected ion monitoring

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7 January 2021

Evaluation of urinary acylglycines by electrospray tandem mass spectrometry in mitochondrial energy metabolism defects and organic acidurias

1 reference

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7 January 2021

Chiral liquid chromatography tandem mass spectrometry in the determination of the configuration of 2-hydroxyglutaric acid in urine

1 reference

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7 January 2021

The application of HPLC/ESI tandem mass spectrometry on urine-soaked filter-paper strips for the screening of disorders of purine and pyrimidine metabolism

1 reference

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7 January 2021

Inborn errors of metabolism with consequences for bile acid biosynthesis. A minireview

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7 January 2021

Plasma bile acids in patients with peroxisomal dysfunction syndromes: analysis by capillary gas chromatography-mass spectrometry

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7 January 2021

Inborn errors of bile acid synthesis.

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7 January 2021

Inborn errors of bile acid metabolism

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7 January 2021

Serum bile acid analysis

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7 January 2021

Rapid diagnosis of Zellweger syndrome and infantile Refsum's disease by fast atom bombardment--mass spectrometry of urine bile salts.

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7 January 2021

Fast atom bombardment combined with tandem mass spectrometry for determination of bile salts and their conjugates

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7 January 2021

Screening techniques for the detection of inborn errors of bile acid metabolism by direct injection and micro-high performance liquid chromatography-continuous flow/fast atom bombardment mass spectrometry

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7 January 2021

Ion spray liquid chromatographic/mass spectrometric characterization of bile acids

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7 January 2021

High-performance liquid chromatographic-electrospray mass spectrometric analysis of bile acids in biological fluids

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7 January 2021

A method for the quantitation of conjugated bile acids in dried blood spots using electrospray ionization-mass spectrometry

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7 January 2021

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

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7 January 2021

Rapid analysis of conjugated bile acids in plasma using electrospray tandem mass spectrometry: application for selective screening of peroxisomal disorders

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7 January 2021

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

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7 January 2021

Retrospective biochemical screening of fatty acid oxidation disorders in postmortem livers of 418 cases of sudden death in the first year of life.

1 reference

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7 January 2021

Prenatal diagnosis of isovaleric acidemia by fast atom bombardment and tandem mass spectrometry

1 reference

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7 January 2021

Acylcarnitines in amniotic fluid: application to the prenatal diagnosis of propionic acidaemia

1 reference

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7 January 2021

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

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7 January 2021

Prenatal diagnosis of mitochondrial fatty acid oxidation defects

1 reference

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7 January 2021

Measurement of the acyl-CoA intermediates of beta-oxidation by h.p.l.c. with on-line radiochemical and photodiode-array detection. Application to the study of [U-14C]hexadecanoate oxidation by intact rat liver mitochondria

1 reference

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7 January 2021

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

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7 January 2021

Evidence for intermediate channeling in mitochondrial beta-oxidation

1 reference

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7 January 2021

Diagnosis of inborn errors of metabolism by acylcarnitine profiling in blood using tandem mass spectrometry

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https://api.crossref.org/works/10.1016%2FS0378-4347%2801%2900100-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2801%2900100-1

7 January 2021

Acylcarnitines in fibroblasts of patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and other fatty acid oxidation disorders.

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2801%2900100-1

7 January 2021

Isolated isobutyryl-CoA dehydrogenase deficiency: an unrecognized defect in human valine metabolism

1 reference

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7 January 2021

10.1016/S0378-4347(01)00100-1

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11482732%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

1 reference