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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 -
Pharmacologic inhibition of L-tyrosine degradation ameliorates cerebral dopamine deficiency in murine phenylketonuria (PKU)
British Library Conference Proceedings | 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 -
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 -
Constant high adrenal FDG uptake in PET/CT associated with mitochondrial disease
British Library Conference Proceedings | 2014|Keywords: Inborn errors -
The application of multiplexed, multi-dimensional ultra high pressure liquid chromatography/ tandem mass spectrometry to the high throughput screening of lysosomal storage disorders in newborn dried bloodspots
British Library Conference Proceedings | 2010|Keywords: Inborn errors -
A case of deoxyguanosine kinase (DGUOK) deficiency presenting as neonatal hemochromatosis
British Library Conference Proceedings | 2010|Keywords: Inborn errors -
D-glyceric aciduria caused by genetic deficiency of D-glycerate kinase
British Library Conference Proceedings | 2010|Keywords: Inborn errors -
Neurochemical evidence that the major metabolites accumulating in maple syrup urine disease disturb mitochondrial bioenergetic in brain of young rats
British Library Conference Proceedings | 2010|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 -
Integration of Proteomics and Metabolomics in Exploring Genetic and Rare Metabolic Diseases
Karger Verlag | 2017|Keywords: Inborn errors of metabolism -
Acute intermittent porphyria-impact of pathological mutations on the biochemical and enzymatic protein properties
British Library Conference Proceedings | 2010|Keywords: Inborn errors -
Assessment of creatine and guanidinoacetic acid in brain, liver and kidney of AGAT and GAMT deficient mice by means of cation-exchange HPLC with post column derivatization
British Library Conference Proceedings | 2010|Keywords: Inborn errors -
T8993G mutation in ATP-synthase subunit 6 associated with severe hypertrophic cardiomyopathy in 2 patients
British Library Conference Proceedings | 2010|Keywords: Inborn errors -
Transaldolase deficiency: 4 new patients and new pathophysiological insights on the pentose-phosphate pathway
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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