(Q34280979)

1 August 2017

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title

Applications of mass spectrometry in the study of inborn errors of metabolism (English)

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1 August 2017

author

Peter Theodore Clayton

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ORCID Public Data File 2021

author name string

Clayton PT

series ordinal

1

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1 August 2017

publication date

1 April 2001

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Journal of Inherited Metabolic Disease

1 August 2017

published in

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1 August 2017

volume

24

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1 August 2017

issue

2

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1 August 2017

page(s)

139-150

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A new method for the analysis of urinary vitamin E metabolites and the tentative identification of a novel group of compounds

1 August 2017

cites work

1 reference

12 December 2020

A simplified device for protein identification by microcapillary gradient liquid chromatography-tandem mass spectrometry

1 reference

12 December 2020

Impaired degradation of leukotrienes in patients with peroxisome deficiency disorders

1 reference

12 December 2020

Multiple serum protein abnormalities in carbohydrate-deficient glycoprotein syndrome: pathognomonic finding of two-dimensional electrophoresis?

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12 December 2020

Clinical phenotype of desmosterolosis

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12 December 2020

Defects in the synthesis of cysteinyl leukotrienes: a new group of inborn errors of metabolism

1 reference

12 December 2020

Novel urinary metabolite of alpha-tocopherol, 2,5,7,8-tetramethyl-2(2'-carboxyethyl)-6-hydroxychroman, as an indicator of an adequate vitamin E supply?

1 reference

12 December 2020

Prenatal diagnosis of mitochondrial fatty acid oxidation defects

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12 December 2020

Application of high resolution fast atom bombardment and constant B/E ratio linked scanning to the identification and analysis of acylcarnitines in metabolic disease

1 reference

12 December 2020

Abnormal sterol metabolism in patients with Conradi-Hünermann-Happle syndrome and sporadic lethal chondrodysplasia punctata

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12 December 2020

The metabolism of vitamin E. II. Purification and characterization of urinary metabolites of alpha-tocopherol

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12 December 2020

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

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12 December 2020

Zeptomole-Sensitivity Electrospray Ionization−Fourier Transform Ion Cyclotron Resonance Mass Spectrometry of Proteins

1 reference

12 December 2020

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

1 reference

12 December 2020

The identification of unusual bile acid metabolites by tandem mass spectrometry: use of low-energy collision-induced dissociation to produce informative spectra

1 reference

12 December 2020

Endogenous synthesis of galactose in normal men and patients with hereditary galactosaemia

1 reference

12 December 2020

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

1 reference

12 December 2020

Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hünermann syndrome

1 reference

12 December 2020

Disorders of cholesterol biosynthesis

1 reference

12 December 2020

Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in insulin secretion

1 reference

12 December 2020

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

1 reference

12 December 2020

Desalting of in-gel-digested protein sample with mini-C18 columns for matrix-assisted laser desorption ionization time of flight peptide mass fingerprinting

1 reference

12 December 2020

Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome

1 reference

12 December 2020

Isovaleric acidemia: a new genetic defect of leucine metabolism

1 reference

12 December 2020

Clinical phenotype of desmosterolosis

1 reference

Crossref

https://api.crossref.org/works/10.1023%2FA%3A1010358715835

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1023/A:1010358715835

1 reference

Dimensions Publication ID

1 August 2017

1047703356

0 references

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