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Case study of methylmalonic acidemia presenting with acute encephalopathy associated with basal nuclei lesions 20 months after liver transplantation from a living donor
British Library Conference Proceedings | 2010|Keywords: Inborn errors -
Two different clinical phenotype in two siblings with 3-methylglutaconic aciduria type I
British Library Conference Proceedings | 2010|Keywords: Inborn errors -
Neurological deterioration in two patients with methylmalonic aciduria following liver transplantation and subsequent relaxation of natural protein intake
British Library Conference Proceedings | 2010|Keywords: Inborn errors -
Isovaleric acidemia: a case report
British Library Conference Proceedings | 2010|Keywords: Inborn errors -
Inborn errors of metabolism revealed by organic acid profile analysis in high risk Egyptian patients: six years experience
British Library Conference Proceedings | 2010|Keywords: Inborn errors -
Mutation detection in Turkish patients with glutaric aciduria type I
British Library Conference Proceedings | 2010|Keywords: Inborn errors -
Epigenetic syntropy phenomenon associates with folate cycle enzyme deficiency (MTHFR, MTRR, MTR)
British Library Conference Proceedings | 2010|Keywords: Inborn errors -
Successful treatment of two neonates with molybdenum cofactor deficiency (MOCD) type A, using cyclic pyranopterine monophosphate (CPMP)
British Library Conference Proceedings | 2010|Keywords: Inborn errors -
Profile of inherited disorders of aminoacids metabolism other than phenylketonuria in Tunisia
British Library Conference Proceedings | 2010|Keywords: Inborn errors -
Na+,K+-ATPase activity and gene expression in rats subjected to experimental hyperprolinemia
British Library Conference Proceedings | 2010|Keywords: Inborn errors
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