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Selective screening for inborn errors of metabolism-Assessment of metabolites in body fluids
British Library Online Contents | 2011| -
Expression studies of aminoacylases - a turning point in understanding the molecular basis of Canavan disease and aminoacylase 1 deficiency
British Library Online Contents | 2011| -
119-P 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency versus betaketothiolase (MAT) deficiency
British Library Online Contents | 2001| -
Plasma Leptin in Prepubertal Patients with Glycogen Storage Diseases
British Library Online Contents | 2000| -
Elevated plasma bile acid concentrations in two sisters with tyrosinaemia type I
British Library Online Contents | 2000| -
Validation of analytical methods and preanalytical conditions for assessment of enzymes of ketone body utilization in human lymphocytes
British Library Online Contents | 1999| -
Elevated plasma bile acid concentrations in two sisters with tyrosinaemia type I
British Library Online Contents | 1998| -
Quantitation of total homocysteine in human plasma by derivatization to its N(O,S)-propoxycarbonyl propyl ester and gas chromatography-mass spectrometry analysis
British Library Online Contents | 1997| -
Single-run analysis of isomers of retinoyl--D-glucuronide and retinoic acid by reversed-phase high-performance liquid chromatography
British Library Online Contents | 1994| -
Isobutyryl-CoA dehydrogenase deficiency: Isobutyrylglycinuria and ACAD8 gene mutations in two infants
British Library Online Contents | 2004| -
2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: impaired catabolism of isoleucine presenting as neurodegenerative disease
British Library Online Contents | 2004| -
Plasma orotic acid and amino acid concentrations in argininosuccinic acid synthetase deficiency
British Library Online Contents | 1997|
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