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Prenatal diagnosis of 3-hydroxy-3-methylglutaric aciduria via enzyme activity measurements in chorionic villi, chorionic villous fibroblasts or amniocytes using a simple spectrophotometric method

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Journal of Inherited Metabolic Disease

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References

  • Wanders, R. J. A., Schutgens, R. B. H. and Zoeters, B. H. M. 3-Hydroxy-3-methylglutaryl-CoA lyase in human skin fibroblasts: study of its properties and deficient activity in 3-hydroxy-3-methylglutaric aciduria patients using a simple spectrophotometric method.Clin. Chim. Acta 171 (1988) 95–102

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  • Wysocki, S. J. and Haehnel, R. 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: a review.J. Inher. Metab. Dis. 9 (1986) 225–233

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Authors and Affiliations

  1. Department of Pediatrics, University Hospital Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands

    R. J. A. Wanders, R. B. H. Schutgens & B. H. M. Zoeters

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  1. R. J. A. Wanders
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  2. R. B. H. Schutgens
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  3. B. H. M. Zoeters
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Wanders, R.J.A., Schutgens, R.B.H. & Zoeters, B.H.M. Prenatal diagnosis of 3-hydroxy-3-methylglutaric aciduria via enzyme activity measurements in chorionic villi, chorionic villous fibroblasts or amniocytes using a simple spectrophotometric method. J Inherit Metab Dis 11, 430 (1988). https://doi.org/10.1007/BF01800436

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  • DOI: https://doi.org/10.1007/BF01800436

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