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Metabolite Repair Enzymes Control Metabolic Damage in Glycolysis
Elsevier | 2019|Keywords: inborn errors of metabolism, glycolysis -
GC-MS analysis of organic acids in human urine in clinical settings: A study of derivatization and other analytical parameters
Elsevier | 2013|Keywords: Inborn errors of metabolism -
Activity of N-acylneuraminate-9-phosphatase (NANP) is not essential for de novo sialic acid biosynthesis
Elsevier | 2019|Keywords: Inborn errors of metabolism -
Multifactorial modulation of susceptibility to l-lysine in an animal model of glutaric aciduria type I
Elsevier | 2014|Keywords: Inborn errors of metabolism -
A rapid and sensitive method for the quantification of dopamine and serotonin metabolites in cerebrospinal fluid based on UHPLC with fluorescence detection
Elsevier | 2022|Keywords: Inborn errors of metabolism -
Determination of the spectrum of low molecular mass organic acids in urine by capillary electrophoresis with contactless conductivity and ultraviolet photometric detection—An efficient tool for monitoring of inborn metabolic disorders
Elsevier | 2010|Keywords: inborn errors of metabolism, Inborn errors of metabolism -
Infrared ion spectroscopy: New opportunities for small-molecule identification in mass spectrometry - A tutorial perspective
Elsevier | 2019|Keywords: Inborn errors of metabolism -
Structural and functional impact of clinically relevant E1α variants causing pyruvate dehydrogenase complex deficiency
Elsevier | 2021|Keywords: Inborn errors of metabolism -
A medical bioinformatics approach for metabolic disorders: Biomedical data prediction, modeling, and systematic analysis
Elsevier | 2005|Keywords: Inborn errors -
Bezafibrate activation of PPAR drives disturbances in mitochondrial redox bioenergetics and decreases the viability of cells from patients with VLCAD deficiency
Elsevier | 2021|Keywords: Inborn errors of metabolism -
Detection of inborn errors of metabolism utilizing GC-MS urinary metabolomics coupled with a modified orthogonal partial least squares discriminant analysis
Elsevier | 2017|Keywords: Inborn errors of metabolism -
O-Phosphohydroxylysinuria: a new inborn error of metabolism?
National licenceElsevier | 1990|Keywords: Inborn errors of metabolism -
The 2.8å Crystal Structure of peroxisomal 3-ketoacyl-CoA thiolase of Saccharomyces cerevisiae : a five-layered αβαβα structure constructed from two core domains of identical topology
National licenceElsevier | 1994|Keywords: inborn errors -
Methylmalonic aciduria and propionic acidaemia studied by proton nuclear magnetic resonance spectroscopy
National licenceElsevier | 1986|Keywords: Metabolism inborn errors -
Sterolomics in biology, biochemistry, medicine
Elsevier | 2018|Keywords: Inborn errors of metabolism -
Screening for mucopolysaccharide disorders with the berry spot test
National licenceElsevier | 1987|Keywords: inborn errors -
Genomic basis of mucopolysaccharidosis type IIID (MIM 252940) revealed by sequencing of GNS encoding N-acetylglucosamine-6-sulfatase
National licenceElsevier | 2002|Keywords: Inborn errors of metabolism -
Mitochondrial long chain fatty acid β-oxidation in man and mouse
Elsevier | 2009|Keywords: Inborn errors of metabolism
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