Cytidine Diphosphate-Ribitol Analysis for Diagnostics and Treatment Monitoring of Cytidine Diphosphate-L-Ribitol Pyrophosphorylase A Muscular Dystrophy

Walinka van Tol; Monique van Scherpenzeel; Mohammad Alsady; Moniek Riemersma; Esther Hermans; Else Kragt; Giorgio Tasca; Erik-Jan Kamsteeg; Maartje Pennings; Ellen van Beusekom; Jeroen R. Vermeulen; Hans van Bokhoven; Nicol C. Voermans; Michel A. Willemsen; Angel Ashikov; Dirk J. Lefeber

doi:10.1373/clinchem.2019.305391

Cytidine Diphosphate-Ribitol Analysis for Diagnostics and Treatment Monitoring of Cytidine Diphosphate-L-Ribitol Pyrophosphorylase A Muscular Dystrophy

Walinka van Tol, Monique van Scherpenzeel, Mohammad Alsady, Moniek Riemersma, Esther Hermans, Else Kragt, Giorgio Tasca, Erik-Jan Kamsteeg, Maartje Pennings, Ellen van Beusekom, Jeroen R. Vermeulen, Hans van Bokhoven, Nicol C. Voermans, Michel A. Willemsen, Angel Ashikov, Dirk J. Lefeber^*

^*Corresponding author for this work

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

Original language	English
Pages (from-to)	1295-1306
Number of pages	12
Journal	Clinical Chemistry
Volume	65
Issue number	10
DOIs	https://doi.org/10.1373/clinchem.2019.305391
Publication status	Published - Oct 2019

Keywords

ALPHA-DYSTROGLYCAN
POSTTRANSLATIONAL MODIFICATION
DEFECTIVE GLYCOSYLATION
GLYCOPROTEIN COMPLEX
D-RIBOSE
ISPD
MUTATIONS
FKRP
METABOLISM
THERAPY

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10.1373/clinchem.2019.305391

Cite this

van Tol, W., van Scherpenzeel, M., Alsady, M., Riemersma, M., Hermans, E., Kragt, E., Tasca, G., Kamsteeg, E-J., Pennings, M., van Beusekom, E., Vermeulen, J. R., van Bokhoven, H., Voermans, N. C., Willemsen, M. A., Ashikov, A., & Lefeber, D. J. (2019). Cytidine Diphosphate-Ribitol Analysis for Diagnostics and Treatment Monitoring of Cytidine Diphosphate-L-Ribitol Pyrophosphorylase A Muscular Dystrophy. Clinical Chemistry, 65(10), 1295-1306. https://doi.org/10.1373/clinchem.2019.305391

van Tol, Walinka ; van Scherpenzeel, Monique ; Alsady, Mohammad ; Riemersma, Moniek ; Hermans, Esther ; Kragt, Else ; Tasca, Giorgio ; Kamsteeg, Erik-Jan ; Pennings, Maartje ; van Beusekom, Ellen ; Vermeulen, Jeroen R. ; van Bokhoven, Hans ; Voermans, Nicol C. ; Willemsen, Michel A. ; Ashikov, Angel ; Lefeber, Dirk J. / Cytidine Diphosphate-Ribitol Analysis for Diagnostics and Treatment Monitoring of Cytidine Diphosphate-L-Ribitol Pyrophosphorylase A Muscular Dystrophy. In: Clinical Chemistry. 2019 ; Vol. 65, No. 10. pp. 1295-1306.

@article{c6bd5d9ec81c42acb47f10635bf14a29,

title = "Cytidine Diphosphate-Ribitol Analysis for Diagnostics and Treatment Monitoring of Cytidine Diphosphate-L-Ribitol Pyrophosphorylase A Muscular Dystrophy",

keywords = "ALPHA-DYSTROGLYCAN, POSTTRANSLATIONAL MODIFICATION, DEFECTIVE GLYCOSYLATION, GLYCOPROTEIN COMPLEX, D-RIBOSE, ISPD, MUTATIONS, FKRP, METABOLISM, THERAPY",

author = "{van Tol}, Walinka and {van Scherpenzeel}, Monique and Mohammad Alsady and Moniek Riemersma and Esther Hermans and Else Kragt and Giorgio Tasca and Erik-Jan Kamsteeg and Maartje Pennings and {van Beusekom}, Ellen and Vermeulen, {Jeroen R.} and {van Bokhoven}, Hans and Voermans, {Nicol C.} and Willemsen, {Michel A.} and Angel Ashikov and Lefeber, {Dirk J.}",

year = "2019",

month = oct,

doi = "10.1373/clinchem.2019.305391",

language = "English",

volume = "65",

pages = "1295--1306",

journal = "Clinical Chemistry",

issn = "0009-9147",

publisher = "American Association for Clinical Chemistry",

number = "10",

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van Tol, W, van Scherpenzeel, M, Alsady, M, Riemersma, M, Hermans, E, Kragt, E, Tasca, G, Kamsteeg, E-J, Pennings, M, van Beusekom, E, Vermeulen, JR, van Bokhoven, H, Voermans, NC, Willemsen, MA, Ashikov, A & Lefeber, DJ 2019, 'Cytidine Diphosphate-Ribitol Analysis for Diagnostics and Treatment Monitoring of Cytidine Diphosphate-L-Ribitol Pyrophosphorylase A Muscular Dystrophy', Clinical Chemistry, vol. 65, no. 10, pp. 1295-1306. https://doi.org/10.1373/clinchem.2019.305391

Cytidine Diphosphate-Ribitol Analysis for Diagnostics and Treatment Monitoring of Cytidine Diphosphate-L-Ribitol Pyrophosphorylase A Muscular Dystrophy. / van Tol, Walinka; van Scherpenzeel, Monique; Alsady, Mohammad; Riemersma, Moniek; Hermans, Esther; Kragt, Else; Tasca, Giorgio; Kamsteeg, Erik-Jan; Pennings, Maartje; van Beusekom, Ellen; Vermeulen, Jeroen R.; van Bokhoven, Hans; Voermans, Nicol C.; Willemsen, Michel A.; Ashikov, Angel; Lefeber, Dirk J.

In: Clinical Chemistry, Vol. 65, No. 10, 10.2019, p. 1295-1306.

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

TY - JOUR

T1 - Cytidine Diphosphate-Ribitol Analysis for Diagnostics and Treatment Monitoring of Cytidine Diphosphate-L-Ribitol Pyrophosphorylase A Muscular Dystrophy

AU - van Tol, Walinka

AU - van Scherpenzeel, Monique

AU - Alsady, Mohammad

AU - Riemersma, Moniek

AU - Hermans, Esther

AU - Kragt, Else

AU - Tasca, Giorgio

AU - Kamsteeg, Erik-Jan

AU - Pennings, Maartje

AU - van Beusekom, Ellen

AU - Vermeulen, Jeroen R.

AU - van Bokhoven, Hans

AU - Voermans, Nicol C.

AU - Willemsen, Michel A.

AU - Ashikov, Angel

AU - Lefeber, Dirk J.

PY - 2019/10

Y1 - 2019/10

KW - ALPHA-DYSTROGLYCAN

KW - POSTTRANSLATIONAL MODIFICATION

KW - DEFECTIVE GLYCOSYLATION

KW - GLYCOPROTEIN COMPLEX

KW - D-RIBOSE

KW - ISPD

KW - MUTATIONS

KW - FKRP

KW - METABOLISM

KW - THERAPY

U2 - 10.1373/clinchem.2019.305391

DO - 10.1373/clinchem.2019.305391

M3 - Article

VL - 65

SP - 1295

EP - 1306

JO - Clinical Chemistry

JF - Clinical Chemistry

SN - 0009-9147

IS - 10

ER -