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Plos One
|
March 12, 2015
Vitamin B6 in plasma and cerebrospinal fluid of children
Monique Albersen, Marjolein Bosma, Judith J M Jans, et al.
The Journal of Pediatrics
|
November 19, 2013
Impaired cognitive functioning in patients with tyrosinemia type I receiving nitisinone
Fatiha Bendadi, Tom J de Koning, Gepke Visser, 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.
Journal of Inherited Metabolic Disease
|
March 20, 2010
Fatal cerebral edema associated with serine deficiency in CSF
Irene M L W Keularts, Piet L J M Leroy, Estela M Rubio-Gozalbo, et al.
Biochimica Et Biophysica Acta. General Subjects
|
November 18, 2019
Metabolic fingerprinting reveals extensive consequences of GLS hyperactivity
Lynne Rumping, Mia L Pras-Raves, Johan Gerrits, et al.
Journal of Inherited Metabolic Disease
|
June 26, 2016
The value of plasma vitamin B6 profiles in early onset epileptic encephalopathies
Déborah Mathis, Lucia Abela, Monique Albersen, et al.
Page
of 15
Search research articles
Search
Showing results (71-80 of 142) with videos related to
Sort By:
Page
of 15
Plos One
|
March 12, 2015
Vitamin B6 in plasma and cerebrospinal fluid of children
Monique Albersen, Marjolein Bosma, Judith J M Jans, et al.
The Journal of Pediatrics
|
November 19, 2013
Impaired cognitive functioning in patients with tyrosinemia type I receiving nitisinone
Fatiha Bendadi, Tom J de Koning, Gepke Visser, 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.
Journal of Inherited Metabolic Disease
|
March 20, 2010
Fatal cerebral edema associated with serine deficiency in CSF
Irene M L W Keularts, Piet L J M Leroy, Estela M Rubio-Gozalbo, et al.
Biochimica Et Biophysica Acta. General Subjects
|
November 18, 2019
Metabolic fingerprinting reveals extensive consequences of GLS hyperactivity
Lynne Rumping, Mia L Pras-Raves, Johan Gerrits, et al.
Journal of Inherited Metabolic Disease
|
June 26, 2016
The value of plasma vitamin B6 profiles in early onset epileptic encephalopathies
Déborah Mathis, Lucia Abela, Monique Albersen, et al.
Page
of 15