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Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder
British Library Online Contents | 2011| -
Cholesterol-deprivation increases mono-unsaturated very long-chain fatty acids in skin fibroblasts from patients with X-linked adrenoleukodystrophy
British Library Online Contents | 2008| -
Disorders of peroxisome biogenesis: Complementation analysis shows genetic heterogeneity with strong overrepresentation of one group (PEX1 deficiency)
British Library Online Contents | 1999| -
Enoyl-CoA hydratase deficiency: identification of a new type of D-bifunctional protein deficiency
British Library Online Contents | 1999| -
Enoyl-CoA hydratase deficiency: identification of a new type of D-bifunctional protein deficiency
British Library Online Contents | 1999| -
D-Hydroxyacyl-CoA Dehydrogenase Deficiency: Identification of a New Peroxisomal Disorder with Implications for Other Disorders of beta-Oxidation
British Library Conference Proceedings | 1999| -
343-O Genetic classification of cells from patients with a peroxisome biogenesis disorder
British Library Conference Proceedings | 2007| -
Trihydroxycholestanoic acidaemia revisited: normal branched-chain acyl-CoA oxidase activity in fibroblasts from three candidate patients
British Library Conference Proceedings | 1998| -
Trihydroxycholestanoic acidaemia revisited: normal branched-chain acyl-CoA oxidase activity in fibroblasts from three candidate patients
British Library Online Contents | 1998| -
Mutation analysis of human PEX 1, responsible for complementation group 1 of the peroxisomal biogenesis disorders
British Library Online Contents | 1999| -
IDENTIFICATION OF THE PEROXISOMAL beta-OXIDATION ENZYMES INVOLVED IN THE BIOSYNTHESIS OF DOCOSAHEXAENOIC ACID
British Library Online Contents | 2001| -
Bifunctional protein deficiency: resolution of the underlying basis for the intragenic complementation using enzymological and immunological methods
British Library Conference Proceedings | 1998| -
Bifunctional protein deficiency: resolution of the underlying basis for the intragenic complementation using enzymological and immunological methods
British Library Online Contents | 1998| -
346-P Characterisation of Zellweger syndrome patients with a defect in the PEX5 gene
British Library Conference Proceedings | 2007| -
A novel cell model to study the function of the adrenoleukodystrophy-related protein
British Library Online Contents | 2006| -
Measurement of dihydroxyacetonephosphate acyltransferase (DHAPAT) in chorionic villous samples, blood cells and cultured cells
British Library Online Contents | 1995| -
Measurement of dihydroxyacetonephosphate acyltransferase (DHAPAT) in chorionic villous samples, blood cells and cultured cells
British Library Online Contents | 1995|
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