Polyols

Nanda Verhoeven-Duif; Mirjam M C Wamelink; Cornelis Jakobs

doi:10.1007/978-3-540-76698-8_23

Polyols

Nanda Verhoeven-Duif, Mirjam M C Wamelink, Cornelis Jakobs

Research output: Chapter in Book/Report/Conference proceeding › Chapter › Academic › peer-review

Abstract

Abstract Several inborn errors of metabolism with abnormal polyol concentrations in body fluids are known to date, like galactosemia, sorbitol dehydrogenase deficiency, pentosuria, transaldolase deficiency and ribose-5-phosphate isomerase deficiency. Most of these defects can be diagnosed by the assessment of urinary concentrations of polyols. The current chapter describes two highly sensitive, quantitative methods for determination of polyols in urine by liquid chromatography tandem mass spectrometry. Both methods can be used for diagnosing inborn errors of metabolism affecting polyol metabolism.

Original language	English
Title of host publication	Laboratory Guide to the Methods in Biochemical Genetics
Publisher	Springer Berlin Heidelberg
Pages	473-482
Number of pages	10
ISBN (Print)	9783540766971
DOIs	https://doi.org/10.1007/978-3-540-76698-8_23
Publication status	Published - 1 Dec 2008

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10.1007/978-3-540-76698-8_23

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abstract = "Abstract Several inborn errors of metabolism with abnormal polyol concentrations in body fluids are known to date, like galactosemia, sorbitol dehydrogenase deficiency, pentosuria, transaldolase deficiency and ribose-5-phosphate isomerase deficiency. Most of these defects can be diagnosed by the assessment of urinary concentrations of polyols. The current chapter describes two highly sensitive, quantitative methods for determination of polyols in urine by liquid chromatography tandem mass spectrometry. Both methods can be used for diagnosing inborn errors of metabolism affecting polyol metabolism.",

author = "Nanda Verhoeven-Duif and Wamelink, {Mirjam M C} and Cornelis Jakobs",

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AB - Abstract Several inborn errors of metabolism with abnormal polyol concentrations in body fluids are known to date, like galactosemia, sorbitol dehydrogenase deficiency, pentosuria, transaldolase deficiency and ribose-5-phosphate isomerase deficiency. Most of these defects can be diagnosed by the assessment of urinary concentrations of polyols. The current chapter describes two highly sensitive, quantitative methods for determination of polyols in urine by liquid chromatography tandem mass spectrometry. Both methods can be used for diagnosing inborn errors of metabolism affecting polyol metabolism.

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BT - Laboratory Guide to the Methods in Biochemical Genetics

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ER -

Polyols

Abstract

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