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Journal of Inherited Metabolic Disease
|
October 27, 2004
Animal models for glutaryl-CoA dehydrogenase deficiency
D M Koeller, S Sauer, M Wajner, et al.
The Journal of Biological Chemistry
|
February 16, 2002
Neurodegeneration in methylmalonic aciduria involves inhibition of complex II and the tricarboxylic acid cycle, and synergistically acting excitotoxicity
Jürgen G Okun, Friederike Hörster, Lilla M Farkas, et al.
The Journal of Biological Chemistry
|
April 21, 2005
Bioenergetics in glutaryl-coenzyme A dehydrogenase deficiency: a role for glutaryl-coenzyme A
Sven W Sauer, Jürgen G Okun, Marina A Schwab, et al.
Plos One
|
September 16, 2017
Simultaneous determination of 3-hydroxypropionic acid, methylmalonic acid and methylcitric acid in dried blood spots: Second-tier LC-MS/MS assay for newborn screening of propionic acidemia, methylmalonic acidemias and combined remethylation disorders
Péter Monostori, Glynis Klinke, Sylvia Richter, et al.
Journal of Neuroscience Research
|
December 18, 2001
3-Ureidopropionate contributes to the neuropathology of 3-ureidopropionase deficiency and severe propionic aciduria: a hypothesis
S Kölker, J G Okun, F Hörster, et al.
Journal of Inherited Metabolic Disease
|
December 19, 2019
High throughput newborn screening for aromatic ʟ-amino-acid decarboxylase deficiency by analysis of concentrations of 3-O-methyldopa from dried blood spots
Heiko Brennenstuhl, Dirk Kohlmüller, Gwendolyn Gramer, et al.
Human Mutation
|
January 17, 2020
From genotype to phenotype: Early prediction of disease severity in argininosuccinic aciduria
Matthias Zielonka, Sven F Garbade, Florian Gleich, et al.
Molecular Genetics and Metabolism
|
July 22, 2022
Genotypic and phenotypic spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency
M Goetz, J Schröter, T Dattner, et al.
Cardiovascular Diabetology
|
August 14, 2024
Interactions between the gut microbiome, associated metabolites and the manifestation and progression of heart failure with preserved ejection fraction in ZSF1 rats
Salmina J Guivala, Konrad A Bode, Jürgen G Okun, et al.
Molecular Genetics and Metabolism
|
December 19, 2023
ASS1 deficiency is associated with impaired neuronal differentiation in zebrafish larvae
Marie J Seidl, Svenja Scharre, Roland Posset, et al.
Page
of 17
Search research articles
Search
Showing results (71-80 of 165) with videos related to
Sort By:
Page
of 17
Journal of Inherited Metabolic Disease
|
October 27, 2004
Animal models for glutaryl-CoA dehydrogenase deficiency
D M Koeller, S Sauer, M Wajner, et al.
The Journal of Biological Chemistry
|
February 16, 2002
Neurodegeneration in methylmalonic aciduria involves inhibition of complex II and the tricarboxylic acid cycle, and synergistically acting excitotoxicity
Jürgen G Okun, Friederike Hörster, Lilla M Farkas, et al.
The Journal of Biological Chemistry
|
April 21, 2005
Bioenergetics in glutaryl-coenzyme A dehydrogenase deficiency: a role for glutaryl-coenzyme A
Sven W Sauer, Jürgen G Okun, Marina A Schwab, et al.
Plos One
|
September 16, 2017
Simultaneous determination of 3-hydroxypropionic acid, methylmalonic acid and methylcitric acid in dried blood spots: Second-tier LC-MS/MS assay for newborn screening of propionic acidemia, methylmalonic acidemias and combined remethylation disorders
Péter Monostori, Glynis Klinke, Sylvia Richter, et al.
Journal of Neuroscience Research
|
December 18, 2001
3-Ureidopropionate contributes to the neuropathology of 3-ureidopropionase deficiency and severe propionic aciduria: a hypothesis
S Kölker, J G Okun, F Hörster, et al.
Journal of Inherited Metabolic Disease
|
December 19, 2019
High throughput newborn screening for aromatic ʟ-amino-acid decarboxylase deficiency by analysis of concentrations of 3-O-methyldopa from dried blood spots
Heiko Brennenstuhl, Dirk Kohlmüller, Gwendolyn Gramer, et al.
Human Mutation
|
January 17, 2020
From genotype to phenotype: Early prediction of disease severity in argininosuccinic aciduria
Matthias Zielonka, Sven F Garbade, Florian Gleich, et al.
Molecular Genetics and Metabolism
|
July 22, 2022
Genotypic and phenotypic spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency
M Goetz, J Schröter, T Dattner, et al.
Cardiovascular Diabetology
|
August 14, 2024
Interactions between the gut microbiome, associated metabolites and the manifestation and progression of heart failure with preserved ejection fraction in ZSF1 rats
Salmina J Guivala, Konrad A Bode, Jürgen G Okun, et al.
Molecular Genetics and Metabolism
|
December 19, 2023
ASS1 deficiency is associated with impaired neuronal differentiation in zebrafish larvae
Marie J Seidl, Svenja Scharre, Roland Posset, et al.
Page
of 17