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L

Leo A. J. Kluijtmans

Radboud University Medical Center
H指数:50
被引数:1.3万

个人简介

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教育背景

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工作经历

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荣誉奖项

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Evaluation of Newborn Screening for Diseases Using C5-OH as a Marker: Systematic Review of the Literature and Evaluation of 17 Years of C5-OH Screening in the Netherlands

以C5-OH为标志物进行疾病的新生儿筛查评估：文献的系统综述及荷兰17年C5-OH筛查的评估

Journal of Inherited Metabolic Disease
IF3.8
2025-09-120
PREAI
Ryan Aukes; Monique Albersen; Anita Boelen; Leo A. J. Kluijtmans; Wouter F. Visser; Maaike C. de Vries; Annet M. Bosch; the C5-OH NBS Working Group
A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening

Delphi调查研究，以制定有关遗传性代谢紊乱可治疗性的声明，以决定新生儿筛查的资格

INTERNATIONAL JOURNAL OF NEONATAL SCREENING
IF4
2023-10-114
OAAI
Veldman, Abigail; Kiewiet, M. B. Gea; Westra, Dineke; Bosch, Annet M.; Brands, Marion M. G.; de Coo, Rene I. F. M.; Derks, Terry G. J.; Fuchs, Sabine A.; van den Hout, Johanna. M. P.; Huidekoper, Hidde H.; Kluijtmans, Leo A. J.; Koop, Klaas; Lubout, Charlotte M. A.; Mulder, Margaretha F.; Panis, Bianca; Rubio-Gozalbo, M. Estela; de van der Velden, Monique G.; Schaefers, Jaqueline; Schreuder, Andrea B.; Visser, Gepke; Wevers, Ron A.; Wijburg, Frits A.; Heiner-Fokkema, M. Rebecca; van Spronsen, Francjan J.
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.
Preanalytical Pitfalls in Untargeted Plasma Nuclear Magnetic Resonance Metabolomics of Endocrine Hypertension
METABOLITES
IF3.7
2022-07-243
OAAI
Bliziotis, Nikolaos G.; Kluijtmans, Leo A. J.; Tinnevelt, Gerjen H.; Reel, Parminder; Reel, Smarti; Langton, Katharina; Robledo, Mercedes; Pamporaki, Christina; Pecori, Alessio; Van Kralingen, Josie; Tetti, Martina; Engelke, Udo F. H.; Erlic, Zoran; Engel, Jasper; Deutschbein, Timo; Noelting, Svenja; Prejbisz, Aleksander; Richter, Susan; Adamski, Jerzy; Januszewicz, Andrzej; Ceccato, Filippo; Scaroni, Carla; Dennedy, Michael C.; Williams, Tracy A.; Lenzini, Livia; Gimenez-Roqueplo, Anne-Paule; Davies, Eleanor; Fassnacht, Martin; Remde, Hanna; Eisenhofer, Graeme; Beuschlein, Felix; Kroiss, Matthias; Jefferson, Emily; Zennaro, Maria-Christina; Wevers, Ron A.; Jansen, Jeroen J.; Deinum, Jaap; Timmers, Henri J. L. M.
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
Pre- versus post-operative untargeted plasma nuclear magnetic resonance spectroscopy metabolomics of pheochromocytoma and paraganglioma
ENDOCRINE
IF2.9
2021-09-184
OAAI
Bliziotis, Nikolaos G.; Kluijtmans, Leo A. J.; Soto, Sebastian; Tinnevelt, Gerjen H.; Langton, Katharina; Robledo, Mercedes; Pamporaki, Christina; Engelke, Udo F. H.; Erlic, Zoran; Engel, Jasper; Deutschbein, Timo; Noelting, Svenja; Prejbisz, Aleksander; Richter, Susan; Prehn, Cornelia; Adamski, Jerzy; Januszewicz, Andrzej; Reincke, Martin; Fassnacht, Martin; Eisenhofer, Graeme; Beuschlein, Felix; Kroiss, Matthias; Wevers, Ron A.; Jansen, Jeroen J.; Deinum, Jaap; Timmers, Henri J. L. M.
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
R
Ron A. Wevers
H 指数:89论文数:713被引数:2.9万
H
Henk J. Blom
H 指数:95论文数:522被引数:3.7万
U
Udo F. H. Engelke
H 指数:45论文数:162被引数:4,831
C
Clara D.M. van Karnebeek
H 指数:28论文数:131被引数:2,879
M
Marleen C.D.G. Huigen
H 指数:15论文数:32被引数:882
M
Martin den Heijer
H 指数:93论文数:535被引数:4.5万
K
Karlien L. M. Coene
H 指数:21论文数:60被引数:2,520
S
Sandra G. Heil
H 指数:34论文数:113被引数:3,893
S
Saskia B. Wortmann
H 指数:50论文数:260被引数:7,639
P
Petra Verhoef
H 指数:50论文数:159被引数:8,295