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Molecular and structural analysis of six nonsense mutations in mut methylmalonic acidemia patients including two novel nonsense mutations
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 -
Polyneuropathy as the main presenting symptom in PDH deficiency
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 -
Identification of mutations in the PCCA and PCCB genes causing propionic acidemia in Turkish patients
British Library Conference Proceedings | 2010|Keywords: Inborn errors -
A novel mutation in DGUOK gene in a Turkish newborn
British Library Conference Proceedings | 2010|Keywords: Inborn errors -
Cirrhosis associated with propionate metabolism
British Library Conference Proceedings | 2010|Keywords: Inborn errors -
Mutation profile of BCKDHA, BCKDHB AND DBT genes for maple syrup urine disease in Turkey
British Library Conference Proceedings | 2010|Keywords: Inborn errors -
Home visits in phenylketonuria: a-12-month longitidunal study
British Library Conference Proceedings | 2010|Keywords: Inborn errors -
The spectrum and frequency of aldolase B gene mutations in Turkish patients with hereditary fructose intolerance
British Library Conference Proceedings | 2010|Keywords: Inborn errors -
Growth and protein intake in phenylketonuria: results of 398 Turkish children
British Library Conference Proceedings | 2010|Keywords: Inborn errors -
Evaluation of 42 patients with hyperphenylalaninemia caused by a defect in tetrahydrobiopterin metabolism
British Library Conference Proceedings | 2010|Keywords: Inborn errors -
A novel mutation in beta ketothiolase deficiency
British Library Conference Proceedings | 2010|Keywords: Inborn errors -
Infantile Refsum disease in a Turkish patient: case report
British Library Conference Proceedings | 2010|Keywords: Inborn errors -
Cobalamin c deficient methylmalonic aciduria and homocystinuria: a case report
British Library Conference Proceedings | 2010|Keywords: Inborn errors -
Mutations in fumarylacetoacetate hydrolase gene and genotype-phenotype relation
British Library Conference Proceedings | 2010|Keywords: Inborn errors -
Blood phenylalanine control in Turkish phenlyketonuric children
British Library Conference Proceedings | 2010|Keywords: Inborn errors -
Six novel mutations in Turkish patients with isovaleric acidemia
British Library Conference Proceedings | 2010|Keywords: Inborn errors -
Transcobalamin ii deficiency in two cases with a novel mutation
British Library Conference Proceedings | 2010|Keywords: Inborn errors -
Renal agenesis in association with maternal PKU syndrome
British Library Conference Proceedings | 2010|Keywords: Inborn errors
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