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Showing results (91-100 of 142) with videos related to

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Human Genetics|September 21, 2019
MDH1 deficiency is a metabolic disorder of the malate-aspartate shuttle associated with early onset severe encephalopathyMelissa H Broeks, Hanan E Shamseldin, Amal Alhashem, et al.
Journal of Child Neurology|October 12, 2013
Atypical vitamin B6 deficiency: a rare cause of unexplained neonatal and infantile epilepsiesAnna Baumgart, Sarah von Spiczak, Nanda M Verhoeven-Duif, et al.
Plos One|March 6, 2020
NaV1.1 and NaV1.6 selective compounds reduce the behavior phenotype and epileptiform activity in a novel zebrafish model for Dravet SyndromeWout J Weuring, Sakshi Singh, Linda Volkers, et al.
Hemasphere|June 16, 2021
Metabolic Fingerprint in Hereditary Spherocytosis Correlates With Red Blood Cell Characteristics and Clinical SeverityBirgit van Dooijeweert, Melissa H Broeks, Nanda M Verhoeven-Duif, et al.
JIMD Reports|February 27, 2016
A New Approach for Fast Metabolic Diagnostics in CMAMMAMonique G M de Sain-van der Velden, Maria van der Ham, Judith J Jans, et al.
Nature|March 9, 2017
Interplay between metabolic identities in the intestinal crypt supports stem cell functionMaria J Rodríguez-Colman, Matthias Schewe, Maaike Meerlo, et al.
JAMA Oncology|July 17, 2015
Increased Plasma Levels of Chemoresistance-Inducing Fatty Acid 16:4(n-3) After Consumption of Fish and Fish OilLaura G M Daenen, Geert A Cirkel, Julia M Houthuijzen, et al.
Journal of Inherited Metabolic Disease|April 22, 2016
Rapid quantification of underivatized amino acids in plasma by hydrophilic interaction liquid chromatography (HILIC) coupled with tandem mass-spectrometryHubertus C M T Prinsen, B G M Schiebergen-Bronkhorst, M W Roeleveld, et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease|November 25, 2019
Pyridox(am)ine 5'-phosphate oxidase (PNPO) deficiency in zebrafish results in fatal seizures and metabolic aberrationsJolita Ciapaite, Monique Albersen, Sanne M C Savelberg, et al.
Cell Reports|August 30, 2023
The malate-aspartate shuttle is important for de novo serine biosynthesisMelissa H Broeks, Nils W F Meijer, Denise Westland, et al.
Pageof 15

Showing results (91-100 of 142) with videos related to

Sort By:
Pageof 15
Human Genetics|September 21, 2019
MDH1 deficiency is a metabolic disorder of the malate-aspartate shuttle associated with early onset severe encephalopathyMelissa H Broeks, Hanan E Shamseldin, Amal Alhashem, et al.
Journal of Child Neurology|October 12, 2013
Atypical vitamin B6 deficiency: a rare cause of unexplained neonatal and infantile epilepsiesAnna Baumgart, Sarah von Spiczak, Nanda M Verhoeven-Duif, et al.
Plos One|March 6, 2020
NaV1.1 and NaV1.6 selective compounds reduce the behavior phenotype and epileptiform activity in a novel zebrafish model for Dravet SyndromeWout J Weuring, Sakshi Singh, Linda Volkers, et al.
Hemasphere|June 16, 2021
Metabolic Fingerprint in Hereditary Spherocytosis Correlates With Red Blood Cell Characteristics and Clinical SeverityBirgit van Dooijeweert, Melissa H Broeks, Nanda M Verhoeven-Duif, et al.
JIMD Reports|February 27, 2016
A New Approach for Fast Metabolic Diagnostics in CMAMMAMonique G M de Sain-van der Velden, Maria van der Ham, Judith J Jans, et al.
Nature|March 9, 2017
Interplay between metabolic identities in the intestinal crypt supports stem cell functionMaria J Rodríguez-Colman, Matthias Schewe, Maaike Meerlo, et al.
JAMA Oncology|July 17, 2015
Increased Plasma Levels of Chemoresistance-Inducing Fatty Acid 16:4(n-3) After Consumption of Fish and Fish OilLaura G M Daenen, Geert A Cirkel, Julia M Houthuijzen, et al.
Journal of Inherited Metabolic Disease|April 22, 2016
Rapid quantification of underivatized amino acids in plasma by hydrophilic interaction liquid chromatography (HILIC) coupled with tandem mass-spectrometryHubertus C M T Prinsen, B G M Schiebergen-Bronkhorst, M W Roeleveld, et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease|November 25, 2019
Pyridox(am)ine 5'-phosphate oxidase (PNPO) deficiency in zebrafish results in fatal seizures and metabolic aberrationsJolita Ciapaite, Monique Albersen, Sanne M C Savelberg, et al.
Cell Reports|August 30, 2023
The malate-aspartate shuttle is important for de novo serine biosynthesisMelissa H Broeks, Nils W F Meijer, Denise Westland, et al.
Pageof 15