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The potential of exosomes in diagnosis and treatment of inborn errors of metabolism
British Library Conference Proceedings | 2014|Keywords: Inborn errors -
Inborn errors of pyrimidine metabolism: clinical update and therapy
British Library Conference Proceedings | 2014|Keywords: Inborn errors -
Combined D2-/L2-hydroxyglutaric aciduria (SLC25A1 deficiency): clinical course and effects of citrate treatment
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 -
Ketone body metabolism and its defects
British Library Conference Proceedings | 2014|Keywords: Inborn errors -
Treatment of lysosomal storage disorders: successes and challenges
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 -
Mitochondrial transporters of the SLC25 family and associated diseases: a review
British Library Conference Proceedings | 2014|Keywords: Inborn errors -
Lysosomal diseases: diagnostic update
British Library Conference Proceedings | 2014|Keywords: Inborn errors -
Long-term experience with enzyme replacement therapy (ERT) in MPS II patients with a severe phenotype: an international case series
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 -
Infantile SCA7 is associated with severe renal disease
British Library Conference Proceedings | 2010|Keywords: Inborn errors -
Long term follow up of children identified through expanded newborn screening: clinical and public health aspects
British Library Conference Proceedings | 2010|Keywords: Inborn errors -
Inborn errors of metabolism in neonatal and pediatric intensive care unit: five year expirience
British Library Conference Proceedings | 2010|Keywords: Inborn errors -
Native read-through of a nonsense mutation in a maple syrup urine disease patient
British Library Conference Proceedings | 2010|Keywords: Inborn errors -
Body composition and markers of metabolic syndrome in adults with PKU
British Library Conference Proceedings | 2010|Keywords: Inborn errors
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