Pre- and postnatal diagnosis of the cerebrohepato-renal (Zellweger) syndrome via a simple method directly demonstrating the presence of absence of peroxisomes in cultured skin fibroblasts, amniocytes or chorionic villi fibroblasts
R. J. A. Wanders
Department of Paediatrics, University Hospital Amsterdam, Meibergdreef 9, Amsterdam, 1105 AZ The Netherlands
Search for more papers by this authorG. Schrakamp
Laboratory of Biochemistry, State University Utrecht, Padualaan 8, Utrecht, 3584 CH The Netherlands
Search for more papers by this authorH. van den Bosch
Laboratory of Biochemistry, State University Utrecht, Padualaan 8, Utrecht, 3584 CH The Netherlands
Search for more papers by this authorJ. M. Tager
Laboratory of Biochemistry, Meibergdreef 15, Amsterdam, 1105 AZ The Netherlands
Search for more papers by this authorH. W. Moser
The John F. Kennedy Institute, Baltimore, Maryland, USA
Search for more papers by this authorA. E. Moser
The John F. Kennedy Institute, Baltimore, Maryland, USA
Search for more papers by this authorW. J. Kleijer
Department of Clinical Genetics, University Hospital, Rotterdam, The Netherlands
Search for more papers by this authorR. B. H. Schutgens
Department of Paediatrics, University Hospital Amsterdam, Meibergdreef 9, Amsterdam, 1105 AZ The Netherlands
Search for more papers by this authorR. J. A. Wanders
Department of Paediatrics, University Hospital Amsterdam, Meibergdreef 9, Amsterdam, 1105 AZ The Netherlands
Search for more papers by this authorG. Schrakamp
Laboratory of Biochemistry, State University Utrecht, Padualaan 8, Utrecht, 3584 CH The Netherlands
Search for more papers by this authorH. van den Bosch
Laboratory of Biochemistry, State University Utrecht, Padualaan 8, Utrecht, 3584 CH The Netherlands
Search for more papers by this authorJ. M. Tager
Laboratory of Biochemistry, Meibergdreef 15, Amsterdam, 1105 AZ The Netherlands
Search for more papers by this authorH. W. Moser
The John F. Kennedy Institute, Baltimore, Maryland, USA
Search for more papers by this authorA. E. Moser
The John F. Kennedy Institute, Baltimore, Maryland, USA
Search for more papers by this authorW. J. Kleijer
Department of Clinical Genetics, University Hospital, Rotterdam, The Netherlands
Search for more papers by this authorR. B. H. Schutgens
Department of Paediatrics, University Hospital Amsterdam, Meibergdreef 9, Amsterdam, 1105 AZ The Netherlands
Search for more papers by this author
References
- 1Goldfischer S., Moore C. L., Johnson A. B., Spiro A. J., Valsamis M. P., Wisniewski H. K., Ritch R. H., Norton W. T., Rapin I., Gartner L. M. (1973) Peroxisomal and mitochondrial defects in the cerebro-hepato-renal syndrome. Science, 182: 62–64, .
- 2Heymans, H. S. A (1984) Cerebro-hepato-renal (Zellweger) syndrome: clinical and biochemical consequences of peroxisomal dysfunction.. In: PhD Thesis, University of Amsterdam.
- 3Kelley R. I. (1983) The cerebro-hepato-renal syndrome of Zellweger: morphological and meta10545c aspects. Am. J. Med. Genet., 16: 503–517, .
- 4Schutgens R. B. H., Heymans H. S. A., Wanders R. J. A., van denBosch H., Schrakamp G. (1984) Prenatal detection of Zellweger syndrome. Lancet, 2: 1339–1340, .
- 5Schutgens R. B. H., Romeyn G. J., Wanders R. J. A., van denBosch H., Schrakamp G., Heymans H. S. A. (1984) Deficiency of acylCoA-dihydroxyacetonephosphate acyltransferase in patients with Zellweger (cerebro-hepato-renal) syndrome. Biochem. Biophys. Res. Commun., 120: 179–184, .
- 6Wanders R. J. A., Kos M., Roest B., Meijer A. J., Schrakamp G., Heymans H. S. A., Tegelaers W. H. H., van denBosch H., Schutgens R. B. H., Tager J. M. (1984) Activity of peroxisomal enzymes and intracellular distribution of catalase in Zellweger syndrome. Biochem. Biophys. Res. Commun., 123: 1054–1061, .
- 7Wanders R. J. A., vanWeringh G., Schrakamp G., Tager J. M., van denBosch H., Schutgens R. B. H. (1985) Deficiency of acylCoA-dihydroxyacetonephosphate acyltransferase in thrombocytes from Zellweger patients: a simple postnatal diagnostic test. Clin. Chim. Acta, 151: 217–221, .
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