Accueil
Marleen C D G Huigen
Marleen C D G Huigen
Affiliations
On behalf of "United for Metabolic Diseases," 1105AZ Amsterdam, the Netherlands; Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands.
Publications (11)
Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy.
American journal of human genetics
Avec:
Clara D M van Karnebeek
,
Rúben J Ramos
,
Xiao-Yan Wen
,
Maja Tarailo-Graovac
,
Joseph G Gleeson
,
Cristina Skrypnyk
,
Koroboshka Brand-Arzamendi
,
Farhad Karbassi
,
Mahmoud Y Issa
,
Robin van der Lee
,
Britt I Drögemöller
,
Janet Koster
,
Justine Rousseau
,
Philippe M Campeau
,
Youdong Wang
,
Feng Cao
,
Meng Li
,
Jos Ruiter
,
Jolita Ciapaite
,
Leo A J Kluijtmans
,
Michel A A P Willemsen
,
Judith J Jans
,
Colin J Ross
,
Liesbeth T Wintjes
,
Richard J Rodenburg
,
Zhengping Jia
,
Hans R Waterham
,
Wyeth W Wasserman
,
Ronald J A Wanders
,
Nanda M Verhoeven-Duif
,
Maha S Zaki
,
Ron A Wevers
Metabolite Identification Using Infrared Ion Spectroscopy─Novel Biomarkers for Pyridoxine-Dependent Epilepsy.
Analytical chemistry
Avec:
Rianne E van Outersterp
,
Udo F H Engelke
,
Jona Merx
,
Giel Berden
,
Mathias Paul
,
Thomas Thomulka
,
Albrecht Berkessel
,
Leo A J Kluijtmans
,
Jasmin Mecinović
,
Floris P J T Rutjes
,
Clara D M van Karnebeek
,
Ron A Wevers
,
Thomas J Boltje
,
Karlien L M Coene
,
Jonathan Martens
,
Jos Oomens
Amadori rearrangement products as potential biomarkers for inborn errors of amino-acid metabolism.
Communications biology
Avec:
Rianne E van Outersterp
,
Sam J Moons
,
Udo F H Engelke
,
Herman Bentlage
,
Tessa M A Peters
,
Arno van Rooij
,
Siebolt de Boer
,
Ed van der Heeft
,
Leo A J Kluijtmans
,
Clara D M van Karnebeek
,
Ron A Wevers
,
Giel Berden
,
Jos Oomens
,
Thomas J Boltje
,
Karlien L M Coene
,
Jonathan Martens
Identification of Δ-1-pyrroline-5-carboxylate derived biomarkers for hyperprolinemia type II.
Communications biology
Avec:
Jona Merx
,
Rianne E van Outersterp
,
Udo F H Engelke
,
Veronique Hendriks
,
Ron A Wevers
,
Huub W A H Waterval
,
Irene M L W Körver-Keularts
,
Jasmin Mecinović
,
Floris P J T Rutjes
,
Jos Oomens
,
Karlien L M Coene
,
Jonathan Martens
,
Thomas J Boltje
The role of clinical response to treatment in determining pathogenicity of genomic variants.
Genetics in medicine : official journal of the American College of Medical Genetics
Avec:
Joseph J Shen
,
Saskia B Wortmann
,
Lonneke de Boer
,
Leo A J Kluijtmans
,
Johannes Koch
,
Stephanie Ross
,
Christin D Collins
,
Robin van der Lee
,
Clara D M van Karnebeek
,
Madhuri R Hegde
Neonatal Long-Chain 3-Ketoacyl-CoA Thiolase deficiency: Clinical-biochemical phenotype, sodium-D,L-3-hydroxybutyrate treatment experience and cardiac evaluation using speckle echocardiography.
Molecular genetics and metabolism reports
Avec:
Annemarijne R J Veenvliet
,
Mark R Garrelfs
,
Floris E A Udink Ten Cate
,
Sacha Ferdinandusse
,
Simone Denis
,
Sabine A Fuchs
,
Marit Schwantje
,
Rosa Geurtzen
,
Annemiek M J van Wegberg
,
Leo A J Kluijtmans
,
Ronald J A Wanders
,
Terry G J Derks
,
Lonneke de Boer
,
Riekelt H Houtkooper
,
Maaike C de Vries
,
Clara D M van Karnebeek
Monitoring phenylalanine concentrations in the follow-up of phenylketonuria patients: An inventory of pre-analytical and analytical variation.
JIMD reports
Avec:
Karlien L M Coene
,
Corrie Timmer
,
Susan M I Goorden
,
Amber E Ten Hoedt
,
Leo A J Kluijtmans
,
Mirian C H Janssen
,
Alexander J M Rennings
,
Hubertus C M T Prinsen
,
Mirjam M C Wamelink
,
George J G Ruijter
,
Irene M L W Körver-Keularts
,
M Rebecca Heiner-Fokkema
,
Francjan J van Spronsen
,
Carla E Hollak
,
Frédéric M Vaz
,
Annet M Bosch
,
Organic anion transporters 1 and 3 influence cellular energy metabolism in renal proximal tubule cells.
Biological chemistry
Avec:
Jelle Vriend
,
Charlotte A Hoogstraten
,
Kevin R Venrooij
,
Bartholomeus T van den Berge
,
Larissa P Govers
,
Arno van Rooij
,
Tom J J Schirris
,
Frans G M Russel
,
Rosalinde Masereeuw
,
Martijn J Wilmer
Abnormal VLCADD newborn screening resembling MADD in four neonates with decreased riboflavin levels and VLCAD activity.
JIMD reports
Avec:
Marne C Hagemeijer
,
Esmee Oussoren
,
George J G Ruijter
,
Willem Onkenhout
,
Hidde H Huidekoper
,
Merel S Ebberink
,
Hans R Waterham
,
Sacha Ferdinandusse
,
Maaike C de Vries
,
Leo A J Kluijtmans
,
Karlien L M Coene
,
Henk J Blom
Metabolomics-Based Screening of Inborn Errors of Metabolism: Enhancing Clinical Application with a Robust Computational Pipeline.
Metabolites
Avec:
Brechtje Hoegen
,
Alan Zammit
,
Albert Gerritsen
,
Udo F H Engelke
,
Steven Castelein
,
Maartje van de Vorst
,
Leo A J Kluijtmans
,
Ron A Wevers
,
Alain J van Gool
,
Christian Gilissen
,
Karlien L M Coene
,
Purva Kulkarni
Diagnosing, discarding, or de-VUSsing: A practical guide to (un)targeted metabolomics as variant-transcending functional tests.
Genetics in medicine : official journal of the American College of Medical Genetics
Avec:
Elise A Ferreira
,
Annemarijne R J Veenvliet
,
Udo F H Engelke
,
Leo A J Kluijtmans
,
Brechtje Hoegen
,
Lonneke de Boer
,
Maaike C de Vries
,
Bregje W van Bon
,
Erika Leenders
,
Elisabeth A M Cornelissen
,
Charlotte A Haaxma
,
Jolanda H Schieving
,
M Estela Rubio-Gozalbo
,
Irene M L W Körver-Keularts
,
Lara M Marten
,
Susann Diegmann
,
Jeroen Mourmans
,
Alexander J M Rennings
,
Clara D M van Karnebeek
,
Richard J Rodenburg
,
Karlien L M Coene
Réseau de co-auteurs
Leo A J Kluijtmans
9 collaborations
Karlien L M Coene
7 collaborations
Clara D M van Karnebeek
6 collaborations
Ron A Wevers
5 collaborations
Udo F H Engelke
5 collaborations
Rianne E van Outersterp
3 collaborations
Thomas J Boltje
3 collaborations
Jonathan Martens
3 collaborations
Jos Oomens
3 collaborations
Irene M L W Körver-Keularts
3 collaborations
Lonneke de Boer
3 collaborations
Maaike C de Vries
3 collaborations
Robin van der Lee
2 collaborations
Richard J Rodenburg
2 collaborations
Hans R Waterham
2 collaborations
Ronald J A Wanders
2 collaborations
Jona Merx
2 collaborations
Giel Berden
2 collaborations
Jasmin Mecinović
2 collaborations
Floris P J T Rutjes
2 collaborations
Arno van Rooij
2 collaborations
Annemarijne R J Veenvliet
2 collaborations
Sacha Ferdinandusse
2 collaborations
Alexander J M Rennings
2 collaborations
George J G Ruijter
2 collaborations
Brechtje Hoegen
2 collaborations
Rúben J Ramos
1 collaboration
Xiao-Yan Wen
1 collaboration
Maja Tarailo-Graovac
1 collaboration
Joseph G Gleeson
1 collaboration
Cristina Skrypnyk
1 collaboration
Koroboshka Brand-Arzamendi
1 collaboration
Farhad Karbassi
1 collaboration
Mahmoud Y Issa
1 collaboration
Britt I Drögemöller
1 collaboration
Janet Koster
1 collaboration
Justine Rousseau
1 collaboration
Philippe M Campeau
1 collaboration
Youdong Wang
1 collaboration
Feng Cao
1 collaboration
Meng Li
1 collaboration
Jos Ruiter
1 collaboration
Jolita Ciapaite
1 collaboration
Michel A A P Willemsen
1 collaboration
Judith J Jans
1 collaboration
Colin J Ross
1 collaboration
Liesbeth T Wintjes
1 collaboration
Zhengping Jia
1 collaboration
Wyeth W Wasserman
1 collaboration
Nanda M Verhoeven-Duif
1 collaboration
Maha S Zaki
1 collaboration
Mathias Paul
1 collaboration
Thomas Thomulka
1 collaboration
Albrecht Berkessel
1 collaboration
Sam J Moons
1 collaboration
Herman Bentlage
1 collaboration
Tessa M A Peters
1 collaboration
Siebolt de Boer
1 collaboration
Ed van der Heeft
1 collaboration
Veronique Hendriks
1 collaboration
Huub W A H Waterval
1 collaboration
Joseph J Shen
1 collaboration
Saskia B Wortmann
1 collaboration
Johannes Koch
1 collaboration
Stephanie Ross
1 collaboration
Christin D Collins
1 collaboration
Madhuri R Hegde
1 collaboration
Mark R Garrelfs
1 collaboration
Floris E A Udink Ten Cate
1 collaboration
Simone Denis
1 collaboration
Sabine A Fuchs
1 collaboration
Marit Schwantje
1 collaboration
Rosa Geurtzen
1 collaboration
Annemiek M J van Wegberg
1 collaboration
Terry G J Derks
1 collaboration
Riekelt H Houtkooper
1 collaboration
Corrie Timmer
1 collaboration
Susan M I Goorden
1 collaboration
Amber E Ten Hoedt
1 collaboration
Mirian C H Janssen
1 collaboration
Hubertus C M T Prinsen
1 collaboration
Mirjam M C Wamelink
1 collaboration
M Rebecca Heiner-Fokkema
1 collaboration
Francjan J van Spronsen
1 collaboration
Carla E Hollak
1 collaboration
Frédéric M Vaz
1 collaboration
Annet M Bosch
1 collaboration
Jelle Vriend
1 collaboration
Charlotte A Hoogstraten
1 collaboration
Kevin R Venrooij
1 collaboration
Bartholomeus T van den Berge
1 collaboration
Larissa P Govers
1 collaboration
Tom J J Schirris
1 collaboration
Frans G M Russel
1 collaboration
Rosalinde Masereeuw
1 collaboration
Martijn J Wilmer
1 collaboration
Marne C Hagemeijer
1 collaboration
Esmee Oussoren
1 collaboration
Willem Onkenhout
1 collaboration
Hidde H Huidekoper
1 collaboration
Merel S Ebberink
1 collaboration
Henk J Blom
1 collaboration
Alan Zammit
1 collaboration
Albert Gerritsen
1 collaboration
Steven Castelein
1 collaboration
Maartje van de Vorst
1 collaboration
Alain J van Gool
1 collaboration
Christian Gilissen
1 collaboration
Purva Kulkarni
1 collaboration
Elise A Ferreira
1 collaboration
Bregje W van Bon
1 collaboration
Erika Leenders
1 collaboration
Elisabeth A M Cornelissen
1 collaboration
Charlotte A Haaxma
1 collaboration
Jolanda H Schieving
1 collaboration
M Estela Rubio-Gozalbo
1 collaboration
Lara M Marten
1 collaboration
Susann Diegmann
1 collaboration
Jeroen Mourmans
1 collaboration