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Journal of Inherited Metabolic Disease
|
August 13, 2017
Vitamin B6 is essential for serine de novo biosynthesis
Rúben J Ramos, Mia L Pras-Raves, Johan Gerrits, et al.
Analytica Chimica Acta
|
December 4, 2014
Suitability of methylmalonic acid and total homocysteine analysis in dried bloodspots
Monique G M de Sain-van der Velden, Maria van der Ham, Judith J Jans, et al.
Haematologica
|
October 15, 2020
Untargeted metabolic profiling in dried blood spots identifies disease fingerprint for pyruvate kinase deficiency
Birgit Van Dooijeweert, Melissa H Broeks, Nanda M Verhoeven-Duif, et al.
British Journal of Haematology
|
May 17, 2021
Dried blood spot metabolomics reveals a metabolic fingerprint with diagnostic potential for Diamond Blackfan Anaemia
Birgit van Dooijeweert, Melissa H Broeks, Eduard J van Beers, et al.
Molecular Genetics and Metabolism
|
May 4, 2013
Differences between acylcarnitine profiles in plasma and bloodspots
Monique G M de Sain-van der Velden, Eugene F Diekman, Judith J Jans, et al.
International Journal of Molecular Sciences
|
April 17, 2025
Broad Vitamin B<sub>6</sub>-Related Metabolic Disturbances in a Zebrafish Model of Hypophosphatasia (TNSALP-Deficiency)
Jolita Ciapaite, Monique Albersen, Sanne M C Savelberg, et al.
Molecular Genetics and Metabolism
|
April 9, 2013
Supplementation with a powdered blend of PUFAs normalizes DHA and AA levels in patients with PKU
Judith J Jans, Monique G M de Sain-van der Velden, Peter M van Hasselt, et al.
Blood Cells, Molecules & Diseases
|
January 19, 2025
Red blood cell pyruvate kinase properties in Townes and Berkeley sickle cell disease mouse models - Of mice and men
Marissa J M Traets, Titine J J Ruiter, Charles Levine, et al.
Analytica Chimica Acta
|
June 11, 2017
Quantification of metabolites in dried blood spots by direct infusion high resolution mass spectrometry
Monique G M de Sain-van der Velden, Maria van der Ham, Johan Gerrits, et al.
JIMD Reports
|
February 27, 2016
A New Approach for Fast Metabolic Diagnostics in CMAMMA
Monique G M de Sain-van der Velden, Maria van der Ham, Judith J Jans, et al.
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of 2
Search research articles
Search
Showing results (1-10 of 17) with videos related to
Sort By:
Page
of 2
Journal of Inherited Metabolic Disease
|
August 13, 2017
Vitamin B6 is essential for serine de novo biosynthesis
Rúben J Ramos, Mia L Pras-Raves, Johan Gerrits, et al.
Analytica Chimica Acta
|
December 4, 2014
Suitability of methylmalonic acid and total homocysteine analysis in dried bloodspots
Monique G M de Sain-van der Velden, Maria van der Ham, Judith J Jans, et al.
Haematologica
|
October 15, 2020
Untargeted metabolic profiling in dried blood spots identifies disease fingerprint for pyruvate kinase deficiency
Birgit Van Dooijeweert, Melissa H Broeks, Nanda M Verhoeven-Duif, et al.
British Journal of Haematology
|
May 17, 2021
Dried blood spot metabolomics reveals a metabolic fingerprint with diagnostic potential for Diamond Blackfan Anaemia
Birgit van Dooijeweert, Melissa H Broeks, Eduard J van Beers, et al.
Molecular Genetics and Metabolism
|
May 4, 2013
Differences between acylcarnitine profiles in plasma and bloodspots
Monique G M de Sain-van der Velden, Eugene F Diekman, Judith J Jans, et al.
International Journal of Molecular Sciences
|
April 17, 2025
Broad Vitamin B<sub>6</sub>-Related Metabolic Disturbances in a Zebrafish Model of Hypophosphatasia (TNSALP-Deficiency)
Jolita Ciapaite, Monique Albersen, Sanne M C Savelberg, et al.
Molecular Genetics and Metabolism
|
April 9, 2013
Supplementation with a powdered blend of PUFAs normalizes DHA and AA levels in patients with PKU
Judith J Jans, Monique G M de Sain-van der Velden, Peter M van Hasselt, et al.
Blood Cells, Molecules & Diseases
|
January 19, 2025
Red blood cell pyruvate kinase properties in Townes and Berkeley sickle cell disease mouse models - Of mice and men
Marissa J M Traets, Titine J J Ruiter, Charles Levine, et al.
Analytica Chimica Acta
|
June 11, 2017
Quantification of metabolites in dried blood spots by direct infusion high resolution mass spectrometry
Monique G M de Sain-van der Velden, Maria van der Ham, Johan Gerrits, et al.
JIMD Reports
|
February 27, 2016
A New Approach for Fast Metabolic Diagnostics in CMAMMA
Monique G M de Sain-van der Velden, Maria van der Ham, Judith J Jans, et al.
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of 2