Characteristic Acylcarnitine Profiles in Inherited Defects of Peroxisome Biogenesis: A Novel Tool for Screening Diagnosis Using Tandem Mass Spectrometry

Screening blood spots for inborn errors of metabolism by electrospray tandem mass spectrometry with a microplate batch process and a computer algorithm for automated flagging of abnormal profiles

Mohamed S. Rashed, Martin P. Bucknall, Douglas Little et al. · Clinical Chemistry · 1997 · 274 citations · Full text

Life Sciences, Biochemistry, Mass Spectrometric Analysis +16

Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor

Alison M. Motley, Ewald H. Hettema, Eveline M. Hogenhout et al. · Nature Genetics · 1997 · 272 citations

Life Sciences, Molecular Biology, Pathology +10

Peroxisomal fatty acid α- and <i>β</i>-oxidation in humans: enzymology, peroxisomal metabolite transporters and peroxisomal diseases

Ronald J. A. Wanders, P. Vreken, Sacha Ferdinandusse et al. · Biochemical Society Transactions · 2001 · 223 citations

Life Sciences, Biochemistry, Cell Biology +17

Quantitative plasma acylcarnitine analysis using electrospray tandem mass spectrometry for the diagnosis of organic acidaemias and fatty acid oxidation defects

P. Vreken, A. E. M. van Lint, Albert H. Bootsma et al. · Journal of Inherited Metabolic Disease · 1999 · 144 citations

Life Sciences, Biochemistry, Pharmacology +17

The peroxisome biogenesis disorders

Sj Gould · Medical Entomology and Zoology · 2001 · 127 citations

Life Sciences, Genetics, Molecular Genetics +10