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Molecular Cloning and Expression of Human L-Pipecolate Oxidase
British Library Online Contents | 2000| -
Smith-Lemli-Opitz syndrome: mutation analysis of patients identified many different disease-causing mutations in 7-DHCR gene
British Library Online Contents | 1999| -
Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: Identification of two new mutations
British Library Online Contents | 1997| -
Expression study of a disease causing (D454G) mutation in hepatic carnitine palmitoyltransferase I deficiency
British Library Online Contents | 1998| -
Resolution of the molecular basis of hepatic carnitine palmitoyltransferase I deficiency in a patient
British Library Online Contents | 1997| -
Mitochondrial trifunctional protein deficiency in a 18 years old girl
British Library Online Contents | 1997| -
Molecular basis of mitochondrial trifunctional protein deficiency: identification of four new mutations
British Library Online Contents | 1998| -
225-P Biochemical and molecular diagnosis of inherited disorders of cholesterol biosynthesis
British Library Online Contents | 2001| -
Molecular basis of Sjoegren - Larsson syndrome: Frequency of the 1297-1298 del GA and 943C -> T mutation in 29 patients
British Library Online Contents | 1999| -
Identification of a Missense Mutation in a Patient with Lethal Carnitine Acyl-Carnitine Carrier Deficiency
British Library Conference Proceedings | 1999| -
Alkyl-dihydroxyacetonephosphate synthase: Fate in peroxisome biogenesis disorders and identification of the point mutation underlying a single enzyme deficiency
British Library Online Contents | 1998| -
Mitochondrial trifunctional protein deficiency in a 18 years old girl
British Library Conference Proceedings | 1997| -
Identification of Novel Mutations in Classical Galactosemia
British Library Online Contents | 2005| -
Expression study of a disease causing (D454G) mutation in hepatic carnitine palmitoyltransferase I deficiency
British Library Conference Proceedings | 1998| -
Resolution of the molecular basis of hepatic carnitine palmitoyltransferase I deficiency in a patient
British Library Conference Proceedings | 1997| -
Molecular basis of mitochondrial trifunctional protein deficiency: identification of four new mutations
British Library Conference Proceedings | 1998| -
Prevalence of the common mutation for long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in HELLP syndrome
British Library Online Contents | 1997| -
Sjogren-Larsson Syndrome (fatty alcohol: NAD+ oxidoreductase deficiency): enzyme analysis and mutation analysis in 15 patients
British Library Conference Proceedings | 1998|
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