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Advances in purine and pyrimidine metabolism in health and diseases
Taylor & Francis Verlag | 2016|Keywords: inborn errors -
Novel Developments in Metabolic Disorders of Purine and Pyrimidine Metabolism and Therapeutic Applications of Their Analogs
Taylor & Francis Verlag | 2014|Keywords: inborn errors -
Effects of hematopoietic stem cell transplantation on acyl-CoA oxidase deficiency: a sibling comparison study
British Library Conference Proceedings | 2014|Keywords: Inborn errors -
Treating inborn errors of liver metabolism with stem cells: current clinical development
British Library Conference Proceedings | 2014|Keywords: Inborn errors -
Innovative strategies to treat protein misfolding in inborn errors of metabolism: pharmacological chaperones and proteostasis regulators
British Library Conference Proceedings | 2014|Keywords: Inborn errors -
Experimental evidence for protein oxidative damage and altered antioxidant defense in patients with medium-chain acyl-CoA dehydrogenase deficiency
British Library Conference Proceedings | 2014|Keywords: Inborn errors -
Clinical presentation and outcome in a series of 88 patients with the cblC defect
British Library Conference Proceedings | 2014|Keywords: Inborn errors -
Aberrant protein acylation is a common observation in inborn errors of acyl-CoA metabolism
British Library Conference Proceedings | 2014|Keywords: Inborn errors -
Clinical, biochemical and molecular analysis of 13 Japanese patients with β-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation
British Library Conference Proceedings | 2014|Keywords: Inborn errors -
Plasticity of postsynaptic, but not presynaptic, gaba(B) receptors in aldehyde dehydrogenase 5A1 (ALDH5A1; succinic semialdehyde dehydrogenase) deficient mice
British Library Conference Proceedings | 2010|Keywords: Inborn errors -
The difference between rare and exceptionally rare: molecular characterisation of ribose 5-phosphate isomerase deficiency
British Library Conference Proceedings | 2010|Keywords: Inborn errors -
Molecular analysis of cystationine beta-synthase (CBS) gene mutations in slovenian patients with homocystinuria
British Library Conference Proceedings | 2010|Keywords: Inborn errors -
Pyrroline-5-carboxylate (P5C) synthase deficiency: novel clinical and biochemical insights
British Library Conference Proceedings | 2010|Keywords: Inborn errors -
Analysis of coenzyme Q10 in lymphocytes by HPLC MS/MS
British Library Conference Proceedings | 2010|Keywords: Inborn errors -
Constant high adrenal FDG uptake in PET/CT associated with mitochondrial disease
British Library Conference Proceedings | 2014|Keywords: Inborn errors -
Parkinsonism and inborn errors of metabolism
British Library Conference Proceedings | 2014|Keywords: Inborn errors -
Absolute quantification of metabolic enzymes: stoichiometry of glycolysis
British Library Conference Proceedings | 2010|Keywords: Inborn errors -
Association of low CSF serotonin and the SLC6A4-Gly56Ala mutant serotonin transporter gene with atypical autism
British Library Conference Proceedings | 2010|Keywords: Inborn errors -
Mutation analysis in biotinidase gene by denaturing high pressure liquid chromatography
British Library Conference Proceedings | 2010|Keywords: Inborn errors -
Lactic acid and beyond: quantitative in vivo metabolomic analysis of mitochondrial disease using magnetic resonance spectroscopy
British Library Conference Proceedings | 2010|Keywords: Inborn errors
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