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M

Marleen C.D.G. Huigen

radboud university nijmegen
H指数:15
被引数:886

个人简介

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荣誉奖项

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Diagnosing, discarding, or de-VUSsing: A practical guide to (un)targeted metabolomics as variant-transcending functional tests
GENETICS IN MEDICINE
IF6.2
2023-01-014
OAAI
Ferreira, Elise A.; Veenvliet, Annemarijne R. J.; Engelke, Udo F. H.; Kluijtmans, Leo A. J.; Huigen, Marleen C. D. G.; Hoegen, Brechtje; de Boer, Lonneke; de Vries, Maaike C.; van Bon, Bregje W.; Leenders, Erika; Cornelissen, Elisabeth A. M.; Haaxma, Charlotte A.; Schieving, Jolanda H.; Rubio-Gozalbo, M. Estela; Korver-Keularts, Irene M. L. W.; Marten, Lara M.; Diegmann, Susann; Mourmans, Jeroen; Rennings, Alexander J. M.; Karnebeek, Clara D. M. van; Rodenburg, Richard J.; Coene, Karlien L. M.
Identification of Δ-1-pyrroline-5-carboxylate derived biomarkers for hyperprolinemia type II

鉴定II型高血血症的 Δ-1-吡咯啉-5-羧酸盐衍生的生物标志物

COMMUNICATIONS BIOLOGY
IF5.1
2022-09-211
OAAI
Merx, Jona; van Outersterp, Rianne E.; Engelke, Udo F. H.; Hendriks, Veronique; Wevers, Ron A.; Huigen, Marleen C. D. G.; Waterval, Huub W. A. H.; Korver-Keularts, Irene M. L. W.; Mecinovie, Jasmin; Rutjes, Floris P. J. T.; Oomens, Jos; Coene, Karlien L. M.; Martens, Jonathan; Boltje, Thomas J.
Metabolite Identification Using Infrared Ion Spectroscopy-Novel Biomarkers for Pyridoxine-Dependent Epilepsy

使用红外离子光谱法鉴定代谢物-吡ido醇依赖性癫痫的新生物标志物

ANALYTICAL CHEMISTRY
IF6.7
2021-11-1018
OAAI
van Outersterp, Rianne E.; Engelke, Udo F. H.; Merx, Jona; Berden, Giel; Paul, Mathias; Thomulka, Thomas; Berkessel, Albrecht; Huigen, Marleen C. D. G.; Kluijtmans, Leo A. J.; Mecinovic, Jasmin; Rutjes, Floris P. J. T.; van Karnebeek, Clara D. M.; Wevers, Ron A.; Boltje, Thomas J.; Coene, Karlien L. M.; Martens, Jonathan; Oomens, Jos
Untargeted metabolomics and infrared ion spectroscopy identify biomarkers for pyridoxine-dependent epilepsy

非靶向代谢组学和红外离子光谱鉴定吡哆醇依赖性癫痫的生物标志物

JOURNAL OF CLINICAL INVESTIGATION
IF13.6
2021-08-0225
OA
Engelke, Udo F. H.; van Outersterp, Rianne E.; Merx, Jona; van Geenen, Fred A. M. G.; van Rooij, Arno; Berden, Giel; Huigen, Marleen C. D. G.; Kluijtmans, Leo A. J.; Peters, Tessa M. A.; Al-Shekaili, Hilal H.; Leavitt, Blair R.; de Vrieze, Erik; Broekman, Sanne; van Wijk, Erwin; Tseng, Laura A.; Kulkarni, Purva; Rutjes, Floris P. J. T.; Mecinovic, Jasmin; Struys, Eduard A.; Jansen, Laura A.; Gospe, Sidney M., Jr.; Mercimek-Andrews, Saadet; Hyland, Keith; Willemsen, Michel A. A. P.; Bok, Levinus A.; van Karnebeek, Clara D. M.; Wevers, Ron A.; Boltje, Thomas J.; Oomens, Jos; Martens, Jonathan; Coene, Karlien L. M.
Amadori rearrangement products as potential biomarkers for inborn errors of amino-acid metabolism

Amadori重排产物可作为氨基酸代谢先天性错误的潜在生物标志物

COMMUNICATIONS BIOLOGY
IF5.1
2021-03-1926
OAAI
van Outersterp, Rianne E.; Moons, Sam J.; Engelke, Udo F. H.; Bentlage, Herman; Peters, Tessa M. A.; van Rooij, Arno; Huigen, Marleen C. D. G.; de Boer, Siebolt; van der Heeft, Ed; Kluijtmans, Leo A. J.; van Karnebeek, Clara D. M.; Wevers, Ron A.; Berden, Giel; Oomens, Jos; Boltje, Thomas J.; Coene, Karlien L. M.; Martens, Jonathan
Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2019-09-0145
OAAI
van Karnebeek, Clara D. M.; Ramos, Ruben J.; Wen, Xiao-Yan; Tarailo-Graovac, Maja; Gleeson, Joseph G.; Skrypnyk, Cristina; Brand-Arzamendi, Koroboshka; Karbassi, Farhad; Issa, Mahmoud Y.; van der Lee, Robin; Drogemoller, Britt, I; Koster, Janet; Rousseau, Justine; Campeau, Philippe M.; Wang, Youdong; Cao, Feng; Li, Meng; Ruiter, Jos; Ciapaite, Jolita; Kluijtmans, Leo A. J.; Willemsen, Michel A. A. P.; Jans, Judith J.; Ross, Colin J.; Wintjes, Liesbeth T.; Rodenburg, Richard J.; Huigen, Marleen C. D. G.; Jia, Zhengping; Waterham, Hans R.; Wasserman, Wyeth W.; Wanders, Ronald J. A.; Verhoeven-Duif, Nanda M.; Zaki, Maha S.; Wevers, Ron A.

研究方向

暂未获取到该数据
L
Leo A. J. Kluijtmans
H 指数:50论文数:162被引数:1.3万
K
Karlien L. M. Coene
H 指数:21论文数:60被引数:2,534
R
Ron A. Wevers
H 指数:89论文数:713被引数:2.9万
U
Udo F. H. Engelke
H 指数:45论文数:162被引数:4,853
C
Clara D.M. van Karnebeek
H 指数:28论文数:132被引数:2,920
R
Rianne E. van Outersterp
H 指数:13论文数:28被引数:562
J
Jonathan Martens
H 指数:28论文数:244被引数:3,053
J
Jos Oomens
H 指数:67论文数:656被引数:1.8万
T
Thomas J. Boltje
H 指数:36论文数:145被引数:4,923
M
Michèl A.A.P. Willemsen
H 指数:60论文数:332被引数:1.2万