Next-generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients.

Karlien L M Coene; Leo A J Kluijtmans; Ed van der Heeft; Udo F H Engelke; Siebolt de Boer; Brechtje Hoegen; Hanneke J T Kwast; Maartje van de Vorst; Marleen C D G Huigen; Irene M L W Keularts; Michiel F Schreuder; Clara D M van Karnebeek; Saskia Wortmann; Maaike C de Vries; Mirian C H Janssen; Christian Gilissen; Jasper Engel; Ron A Wevers

doi:10.1007/s10545-017-0131-6

Next-generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients.

Karlien L M Coene, Leo A J Kluijtmans, Ed van der Heeft, Udo F H Engelke, Siebolt de Boer, Brechtje Hoegen, Hanneke J T Kwast, Maartje van de Vorst, Marleen C D G Huigen, Irene M L W Keularts, Michiel F Schreuder, Clara D M van Karnebeek, Saskia Wortmann (Co-author), Maaike C de Vries, Mirian C H Janssen, Christian Gilissen, Jasper Engel, Ron A Wevers

Department of Pediatrics

Research output: Contribution to journal › Original Article › peer-review

134 Citations (Web of Science)

Original language	English
Pages (from-to)	337-353
Journal	JOURNAL OF INHERITED METABOLIC DISEASE
Volume	41
Issue number	3
DOIs	https://doi.org/10.1007/s10545-017-0131-6
Publication status	Published - 2018

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10.1007/s10545-017-0131-6

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Coene, K. L. M., Kluijtmans, L. A. J., van der Heeft, E., Engelke, U. F. H., de Boer, S., Hoegen, B., Kwast, H. J. T., van de Vorst, M., Huigen, M. C. D. G., Keularts, I. M. L. W., Schreuder, M. F., van Karnebeek, C. D. M., Wortmann, S., de Vries, M. C., Janssen, M. C. H., Gilissen, C., Engel, J., & Wevers, R. A. (2018). Next-generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients. JOURNAL OF INHERITED METABOLIC DISEASE , 41(3), 337-353. https://doi.org/10.1007/s10545-017-0131-6

Coene, Karlien L M ; Kluijtmans, Leo A J ; van der Heeft, Ed et al. / Next-generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients. In: JOURNAL OF INHERITED METABOLIC DISEASE 2018 ; Vol. 41, No. 3. pp. 337-353.

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title = "Next-generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients.",

author = "Coene, {Karlien L M} and Kluijtmans, {Leo A J} and {van der Heeft}, Ed and Engelke, {Udo F H} and {de Boer}, Siebolt and Brechtje Hoegen and Kwast, {Hanneke J T} and {van de Vorst}, Maartje and Huigen, {Marleen C D G} and Keularts, {Irene M L W} and Schreuder, {Michiel F} and {van Karnebeek}, {Clara D M} and Saskia Wortmann and {de Vries}, {Maaike C} and Janssen, {Mirian C H} and Christian Gilissen and Jasper Engel and Wevers, {Ron A}",

note = "Wortmann: Dept Pediat, PMU, Salzburg, Austria",

year = "2018",

doi = "10.1007/s10545-017-0131-6",

language = "English",

volume = "41",

pages = "337--353",

journal = "JOURNAL OF INHERITED METABOLIC DISEASE ",

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publisher = "Wiley Verlag ",

number = "3",

}

Coene, KLM, Kluijtmans, LAJ, van der Heeft, E, Engelke, UFH, de Boer, S, Hoegen, B, Kwast, HJT, van de Vorst, M, Huigen, MCDG, Keularts, IMLW, Schreuder, MF, van Karnebeek, CDM, Wortmann, S, de Vries, MC, Janssen, MCH, Gilissen, C, Engel, J & Wevers, RA 2018, 'Next-generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients.', JOURNAL OF INHERITED METABOLIC DISEASE , vol. 41, no. 3, pp. 337-353. https://doi.org/10.1007/s10545-017-0131-6

Next-generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients. / Coene, Karlien L M; Kluijtmans, Leo A J; van der Heeft, Ed et al.
In: JOURNAL OF INHERITED METABOLIC DISEASE , Vol. 41, No. 3, 2018, p. 337-353.

Research output: Contribution to journal › Original Article › peer-review

TY - JOUR

T1 - Next-generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients.

AU - Coene, Karlien L M

AU - Kluijtmans, Leo A J

AU - van der Heeft, Ed

AU - Engelke, Udo F H

AU - de Boer, Siebolt

AU - Hoegen, Brechtje

AU - Kwast, Hanneke J T

AU - van de Vorst, Maartje

AU - Huigen, Marleen C D G

AU - Keularts, Irene M L W

AU - Schreuder, Michiel F

AU - van Karnebeek, Clara D M

AU - Wortmann, Saskia

AU - de Vries, Maaike C

AU - Janssen, Mirian C H

AU - Gilissen, Christian

AU - Engel, Jasper

AU - Wevers, Ron A

N1 - Wortmann: Dept Pediat, PMU, Salzburg, Austria

PY - 2018

Y1 - 2018

U2 - 10.1007/s10545-017-0131-6

DO - 10.1007/s10545-017-0131-6

M3 - Original Article

C2 - 29453510

SN - 0141-8955

VL - 41

SP - 337

EP - 353

JO - JOURNAL OF INHERITED METABOLIC DISEASE

JF - JOURNAL OF INHERITED METABOLIC DISEASE

IS - 3

ER -

Coene KLM, Kluijtmans LAJ, van der Heeft E, Engelke UFH, de Boer S, Hoegen B et al. Next-generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients. JOURNAL OF INHERITED METABOLIC DISEASE . 2018;41(3):337-353. doi: 10.1007/s10545-017-0131-6