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Good clinical outcome in two patients with complex I deficiency after riboflavin treatment
British Library Conference Proceedings | 2010|Keywords: Inborn errors -
Oxidative stress and antioxidant defence accompanied by mitochondrial complex I inhibition following seizures induced in animal model by homocysteic acid
British Library Conference Proceedings | 2010|Keywords: Inborn errors -
Clinical characterization of a novel congenital disorder of glycosylation (DPM2 mutation)
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 -
Biochemical and glycomic effects of diet relaxation in classical galactosaemia
British Library Conference Proceedings | 2010|Keywords: Inborn errors -
Hypercholesterolemia in a GSD III patient with a novel genotype
British Library Conference Proceedings | 2010|Keywords: Inborn errors -
Fatty acid oxidation defects revealed by extreme physical activity, case report with implications for expanded newborn screening
British Library Conference Proceedings | 2010|Keywords: Inborn errors -
Novel mutations in Turkish patients with primary carnitine deficiency
British Library Conference Proceedings | 2010|Keywords: Inborn errors -
Methylmalonic aciduria in Russia
British Library Conference Proceedings | 2010|Keywords: Inborn errors -
Elevated excretion of 3,6-epoxydicarboxylic acids and 2-hydroxysebacic acid in urine as a marker of peroxisomal disorders
British Library Conference Proceedings | 2010|Keywords: Inborn errors -
Identification of mutations in the PCCA and PCCB genes causing propionic acidemia in Turkish patients
British Library Conference Proceedings | 2010|Keywords: Inborn errors -
Dysmyelination in early-treated patients with glutaric aciduria type I
British Library Conference Proceedings | 2010|Keywords: Inborn errors -
Potential pharmacologycal chaperone therapy for isolated methylmalonic aciduria cblB type
British Library Conference Proceedings | 2010|Keywords: Inborn errors -
Tyrosinemia type I in Southern Brazil: experience, limitations and outcomes
British Library Conference Proceedings | 2010|Keywords: Inborn errors -
In vivo intracerebroventricular administration of ornithine and homocitrulline inhibits mitochondrial energy production and induce oxidative stress in cerebral cortex of young rats
British Library Conference Proceedings | 2010|Keywords: Inborn errors -
Acute tyrosine administration inhibited mitochondrial energy metabolism in cerebral cortex and liver of young rats
British Library Conference Proceedings | 2010|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
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