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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.
Nature Communications
|
March 22, 2025
Dependence of mitochondrial calcium signalling and dynamics on the disaggregase, CLPB
Donato D'Angelo, Víctor H Sánchez-Vázquez, Benjamín Cartes-Saavedra, et al.
Brain : a Journal of Neurology
|
November 19, 2008
Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy
Saskia B Wortmann, Richard J T Rodenburg, An Jonckheere, et al.
Journal of Magnetic Resonance Imaging : JMRI
|
October 12, 2012
Novel proton MR spectroscopy findings in adenylosuccinate lyase deficiency
Maria Zulfiqar, Doris D M Lin, Marinette Van der Graaf, 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.
Journal of Inherited Metabolic Disease
|
October 9, 2020
Clinical presentation and long-term follow-up of dopamine beta hydroxylase deficiency
Tessa Wassenberg, Jaap Deinum, Frans J van Ittersum, et al.
Brain Communications
|
November 12, 2025
New treatment for pyridoxine-dependent epilepsy due to ALDH7A1 deficiency: first proof-of-principle of upstream enzyme inhibition in the mouse
Clara D M van Karnebeek, Valérie Gailus-Durner, Udo F Engelke, et al.
JIMD Reports
|
July 21, 2020
A newborn screening approach to diagnose 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
Jan Václavík, Lucie Mádrová, Štěpán Kouřil, 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.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
December 18, 2022
Newborn screening for Cerebrotendinous Xanthomatosis: A retrospective biomarker study using both flow-injection and UPLC-MS/MS analysis in 20,000 newborns
Frédéric M Vaz, Youssra Jamal, Rob Barto, et al.
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Search research articles
Search
Showing results (161-170 of 266) with videos related to
Sort By:
Page
of 27
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.
Nature Communications
|
March 22, 2025
Dependence of mitochondrial calcium signalling and dynamics on the disaggregase, CLPB
Donato D'Angelo, Víctor H Sánchez-Vázquez, Benjamín Cartes-Saavedra, et al.
Brain : a Journal of Neurology
|
November 19, 2008
Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy
Saskia B Wortmann, Richard J T Rodenburg, An Jonckheere, et al.
Journal of Magnetic Resonance Imaging : JMRI
|
October 12, 2012
Novel proton MR spectroscopy findings in adenylosuccinate lyase deficiency
Maria Zulfiqar, Doris D M Lin, Marinette Van der Graaf, 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.
Journal of Inherited Metabolic Disease
|
October 9, 2020
Clinical presentation and long-term follow-up of dopamine beta hydroxylase deficiency
Tessa Wassenberg, Jaap Deinum, Frans J van Ittersum, et al.
Brain Communications
|
November 12, 2025
New treatment for pyridoxine-dependent epilepsy due to ALDH7A1 deficiency: first proof-of-principle of upstream enzyme inhibition in the mouse
Clara D M van Karnebeek, Valérie Gailus-Durner, Udo F Engelke, et al.
JIMD Reports
|
July 21, 2020
A newborn screening approach to diagnose 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
Jan Václavík, Lucie Mádrová, Štěpán Kouřil, 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.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
December 18, 2022
Newborn screening for Cerebrotendinous Xanthomatosis: A retrospective biomarker study using both flow-injection and UPLC-MS/MS analysis in 20,000 newborns
Frédéric M Vaz, Youssra Jamal, Rob Barto, et al.
Page
of 27