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JIMD Reports
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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.
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 aberrations
Jolita Ciapaite, Monique Albersen, Sanne M C Savelberg, et al.
Biochimica Et Biophysica Acta
|
July 6, 2010
Mitochondrial involvement and erythronic acid as a novel biomarker in transaldolase deficiency
Udo F H Engelke, Fokje S M Zijlstra, Fanny Mochel, et al.
Cell Reports
|
August 30, 2023
The malate-aspartate shuttle is important for de novo serine biosynthesis
Melissa H Broeks, Nils W F Meijer, Denise Westland, et al.
The Journal of Biological Chemistry
|
July 14, 2023
Maintenance of cellular vitamin B<sub>6</sub> levels and mitochondrial oxidative function depend on pyridoxal 5'-phosphate homeostasis protein
Jolita Ciapaite, Carlo W T van Roermund, Marjolein Bosma, et al.
Metabolites
|
January 16, 2019
Direct Infusion Based Metabolomics Identifies Metabolic Disease in Patients' Dried Blood Spots and Plasma
Hanneke A Haijes, Marcel Willemsen, Maria Van der Ham, et al.
Molecular Cell
|
November 1, 2024
mTORC1 restricts TFE3 activity by auto-regulating its presence on lysosomes
Susan Zwakenberg, Denise Westland, Robert M van Es, et al.
Pediatric Blood & Cancer
|
April 3, 2023
Optimising urinary catecholamine metabolite diagnostics for neuroblastoma
Yvette A H Matser, Iedan R N Verly, Maria van der Ham, et al.
Human Molecular Genetics
|
September 24, 2020
A novel mouse model for pyridoxine-dependent epilepsy due to antiquitin deficiency
Hilal H Al-Shekaili, Terri L Petkau, Izabella Pena, et al.
Radiology
|
May 29, 2009
L-2-Hydroxyglutaric aciduria: pattern of MR imaging abnormalities in 56 patients
Marjan E Steenweg, Gajja S Salomons, Zuhal Yapici, et al.
Page
of 11
Search research articles
Search
Showing results (71-80 of 107) with videos related to
Sort By:
Page
of 11
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.
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 aberrations
Jolita Ciapaite, Monique Albersen, Sanne M C Savelberg, et al.
Biochimica Et Biophysica Acta
|
July 6, 2010
Mitochondrial involvement and erythronic acid as a novel biomarker in transaldolase deficiency
Udo F H Engelke, Fokje S M Zijlstra, Fanny Mochel, et al.
Cell Reports
|
August 30, 2023
The malate-aspartate shuttle is important for de novo serine biosynthesis
Melissa H Broeks, Nils W F Meijer, Denise Westland, et al.
The Journal of Biological Chemistry
|
July 14, 2023
Maintenance of cellular vitamin B<sub>6</sub> levels and mitochondrial oxidative function depend on pyridoxal 5'-phosphate homeostasis protein
Jolita Ciapaite, Carlo W T van Roermund, Marjolein Bosma, et al.
Metabolites
|
January 16, 2019
Direct Infusion Based Metabolomics Identifies Metabolic Disease in Patients' Dried Blood Spots and Plasma
Hanneke A Haijes, Marcel Willemsen, Maria Van der Ham, et al.
Molecular Cell
|
November 1, 2024
mTORC1 restricts TFE3 activity by auto-regulating its presence on lysosomes
Susan Zwakenberg, Denise Westland, Robert M van Es, et al.
Pediatric Blood & Cancer
|
April 3, 2023
Optimising urinary catecholamine metabolite diagnostics for neuroblastoma
Yvette A H Matser, Iedan R N Verly, Maria van der Ham, et al.
Human Molecular Genetics
|
September 24, 2020
A novel mouse model for pyridoxine-dependent epilepsy due to antiquitin deficiency
Hilal H Al-Shekaili, Terri L Petkau, Izabella Pena, et al.
Radiology
|
May 29, 2009
L-2-Hydroxyglutaric aciduria: pattern of MR imaging abnormalities in 56 patients
Marjan E Steenweg, Gajja S Salomons, Zuhal Yapici, et al.
Page
of 11