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Analytica Chimica Acta
|
November 19, 2019
Infrared ion spectroscopy: New opportunities for small-molecule identification in mass spectrometry - A tutorial perspective
Jonathan Martens, Rianne E van Outersterp, Rob J Vreeken, et al.
Human Molecular Genetics
|
June 21, 2011
The ciliopathy-associated protein homologs RPGRIP1 and RPGRIP1L are linked to cilium integrity through interaction with Nek4 serine/threonine kinase
Karlien L M Coene, Dorus A Mans, Karsten Boldt, et al.
Journal of Inherited Metabolic Disease
|
November 16, 2017
Structural elucidation of novel biomarkers of known metabolic disorders based on multistage fragmentation mass spectra
Jan Václavík, Karlien L M Coene, Ivo Vrobel, et al.
Journal of Inherited Metabolic Disease
|
April 12, 2021
Targeted urine metabolomics with a graphical reporting tool for rapid diagnosis of inborn errors of metabolism
Laura K M Steinbusch, Ping Wang, Huub W A H Waterval, et al.
Journal of Inherited Metabolic Disease
|
June 21, 2023
Oral sialic acid supplementation in NANS-CDG: Results of a single center, open-label, observational pilot study
Bibiche den Hollander, Marion M Brands, Lonneke de Boer, et al.
Metabolites
|
September 26, 2021
Metabolomics-Based Screening of Inborn Errors of Metabolism: Enhancing Clinical Application with a Robust Computational Pipeline
Brechtje Hoegen, Alan Zammit, Albert Gerritsen, et al.
Metabolites
|
September 27, 2024
Impact of Phenylketonuria on the Serum Metabolome and Plasma Lipidome: A Study in Early-Treated Patients
Jorine C van der Weerd, Annemiek M J van Wegberg, Theo S Boer, et al.
JIMD Reports
|
September 6, 2021
Abnormal VLCADD newborn screening resembling MADD in four neonates with decreased riboflavin levels and VLCAD activity
Marne C Hagemeijer, Esmee Oussoren, George J G Ruijter, et al.
Communications Biology
|
September 21, 2022
Identification of Δ-1-pyrroline-5-carboxylate derived biomarkers for hyperprolinemia type II
Jona Merx, Rianne E van Outersterp, Udo F H Engelke, et al.
Brain : a Journal of Neurology
|
December 24, 2016
CAD mutations and uridine-responsive epileptic encephalopathy
Johannes Koch, Johannes A Mayr, Bader Alhaddad, et al.
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of 4
Search research articles
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Showing results (11-20 of 37) with videos related to
Sort By:
Page
of 4
Analytica Chimica Acta
|
November 19, 2019
Infrared ion spectroscopy: New opportunities for small-molecule identification in mass spectrometry - A tutorial perspective
Jonathan Martens, Rianne E van Outersterp, Rob J Vreeken, et al.
Human Molecular Genetics
|
June 21, 2011
The ciliopathy-associated protein homologs RPGRIP1 and RPGRIP1L are linked to cilium integrity through interaction with Nek4 serine/threonine kinase
Karlien L M Coene, Dorus A Mans, Karsten Boldt, et al.
Journal of Inherited Metabolic Disease
|
November 16, 2017
Structural elucidation of novel biomarkers of known metabolic disorders based on multistage fragmentation mass spectra
Jan Václavík, Karlien L M Coene, Ivo Vrobel, et al.
Journal of Inherited Metabolic Disease
|
April 12, 2021
Targeted urine metabolomics with a graphical reporting tool for rapid diagnosis of inborn errors of metabolism
Laura K M Steinbusch, Ping Wang, Huub W A H Waterval, et al.
Journal of Inherited Metabolic Disease
|
June 21, 2023
Oral sialic acid supplementation in NANS-CDG: Results of a single center, open-label, observational pilot study
Bibiche den Hollander, Marion M Brands, Lonneke de Boer, et al.
Metabolites
|
September 26, 2021
Metabolomics-Based Screening of Inborn Errors of Metabolism: Enhancing Clinical Application with a Robust Computational Pipeline
Brechtje Hoegen, Alan Zammit, Albert Gerritsen, et al.
Metabolites
|
September 27, 2024
Impact of Phenylketonuria on the Serum Metabolome and Plasma Lipidome: A Study in Early-Treated Patients
Jorine C van der Weerd, Annemiek M J van Wegberg, Theo S Boer, et al.
JIMD Reports
|
September 6, 2021
Abnormal VLCADD newborn screening resembling MADD in four neonates with decreased riboflavin levels and VLCAD activity
Marne C Hagemeijer, Esmee Oussoren, George J G Ruijter, et al.
Communications Biology
|
September 21, 2022
Identification of Δ-1-pyrroline-5-carboxylate derived biomarkers for hyperprolinemia type II
Jona Merx, Rianne E van Outersterp, Udo F H Engelke, et al.
Brain : a Journal of Neurology
|
December 24, 2016
CAD mutations and uridine-responsive epileptic encephalopathy
Johannes Koch, Johannes A Mayr, Bader Alhaddad, et al.
Page
of 4