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1 . Academic Journal
Direct Infusion Mass Spectrometry to Rapidly Map Metabolic Flux of Substrates Labeled with Stable Isotopes
저자
by
Nils W. F. Meijer
;
Susan Zwakenberg
;
Johan Gerrits
;
Denise Westland
;
Arif I. Ardisasmita
, et al.
소스
Metabolites, Vol 14, Iss 5, p 246 (2024)
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7 . Academic Journal
A one-year pilot study comparing direct-infusion high resolution mass spectrometry based untargeted metabolomics to targeted diagnostic screening for inherited metabolic diseases
저자
by
Anke P. Willems
;
Maria van der Ham
;
Birgit G. M. Schiebergen-Bronkhorst
;
Mirjam van Aalderen
;
Martina M. J. de Barse
, et al.
소스
Frontiers in Molecular Biosciences, Vol 10 (2023)
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7 . Academic Journal
The malate-aspartate shuttle is important for de novo serine biosynthesis
저자
by
Melissa H. Broeks
;
Nils W.F. Meijer
;
Denise Westland
;
Marjolein Bosma
;
Johan Gerrits
, et al.
소스
Cell Reports, Vol 42, Iss 9, Pp 113043- (2023)
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7 . Academic Journal
Metabolic Alterations in NADSYN1-Deficient Cells
저자
by
Nils W. F. Meijer
;
Johan Gerrits
;
Susan Zwakenberg
;
Fried J. T. Zwartkruis
;
Nanda M. Verhoeven-Duif
, et al.
소스
Metabolites, Vol 13, Iss 12, p 1196 (2023)
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7 . Academic Journal
Untargeted metabolic analysis in dried blood spots reveals metabolic signature in 22q11.2 deletion syndrome
저자
by
Dorinde Korteling
;
Marco P. Boks
;
Ania M. Fiksinski
;
Ilja N. van Hoek
;
Jacob A. S. Vorstman
, et al.
소스
Translational Psychiatry, Vol 12, Iss 1, Pp 1-7 (2022)
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7 . Academic Journal
Metabolic Fingerprint in Hereditary Spherocytosis Correlates With Red Blood Cell Characteristics and Clinical Severity
저자
by
Birgit van Dooijeweert
;
Melissa H. Broeks
;
Nanda M. Verhoeven-Duif
;
Wouter W. van Solinge
;
Eduard J. van Beers
, et al.
소스
HemaSphere, Vol 5, Iss 7, p e591 (2021)
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7 . Academic Journal
Identification of human D lactate dehydrogenase deficiency
저자
by
Glen R. Monroe
;
Albertien M. van Eerde
;
Federico Tessadori
;
Karen J. Duran
;
Sanne M. C. Savelberg
, et al.
소스
Nature Communications, Vol 10, Iss 1, Pp 1-8 (2019)
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7 . Academic Journal
Untargeted metabolic profiling in dried blood spots identifies disease fingerprint for pyruvate kinase deficiency
저자
by
Birgit van Dooijeweert
;
Melissa H. Broeks
;
Nanda M. Verhoeven-Duif
;
Eduard J. van Beers
;
Edward E.S. Nieuwenhuis
, et al.
소스
Haematologica, Vol 106, Iss 10 (2020)
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7 . Academic Journal
Accurate discrimination of Hartnup disorder from other aminoacidurias using a diagnostic ratio
저자
by
H.A. Haijes
;
Hubertus C.M.T. Prinsen
;
Monique G.M. de Sain-van der Velden
;
Nanda M. Verhoeven-Duif
;
Peter M. van Hasselt
, et al.
소스
Molecular Genetics and Metabolism Reports, Vol 22, Iss , Pp - (2020)
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7 . Academic Journal
Cross-Omics: Integrating Genomics with Metabolomics in Clinical Diagnostics
저자
by
Marten H. P. M. Kerkhofs
;
Hanneke A. Haijes
;
A. Marcel Willemsen
;
Koen L. I. van Gassen
;
Maria van der Ham
, et al.
소스
Metabolites, Vol 10, Iss 5, p 206 (2020)
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