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Comparison of the Activities of 15 Lysosomal Enzymes in Chorionic Villi and in Cultured Amniotic Fluid Cells

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First Trimester Fetal Diagnosis

Abstract

The aim of our study was to investigate the activtiy levels of 15 lysosomal enzymes in chorionic villi and to compare their values with those obtained for cultured amniotic fluid cells in order to evaluate trophoblastic biopsy as a method for the prenatal detection of genetic deficiencies associated with these enzymes. This experiment allowed us to monitor six pregnancies at risk for lysosomal storage diseases.

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References

  1. Fensom AH, Jackson M, Sanguinetti N, Rodeck CH, Morsman JM, Coleman DV, Heaton D (1984) The use of chorionic villi for early prenatal diagnosis of metabolic disorders. J Med Genet 21: 142 (abstract)

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  2. Galjaard H (1980) Genetic metabolic diseases. Early diagnosis and prenatal analysis. Elsevier/North-Holland Biomedical Amsterdam

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Author information

Authors and Affiliations

  1. Pediatria III, 16148, Genova Duarto, Italy

    R. Gatti, C. Lombardo, M. Filocamo & C. Borrone

  2. Divisione di Ostetricia e Ginecologia, Instituto G.Gaslini, 16148, Genova Duarto, Italy

    E. Porro

Authors
  1. R. Gatti
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  2. C. Lombardo
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  3. M. Filocamo
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  4. C. Borrone
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  5. E. Porro
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Editor information

Editors and Affiliations

  1. Istituto di Biologia Generale e Genetica Medica, Via Forlanini 14, C.P. 217, I-27100, Pavia, Italy

    Marco Fraccaro

  2. Laboratorio di Citogenetica, I. Clinica Ostetrica e Ginecologica, Universitá di Milano, Via Commenda 12, I-20122, Milano, Italy

    Giuseppe Simoni

  3. Unità di Medicina Perinatale, I. Clinica Ostetrica e Ginecologica, Università di Milano, Via Commenda 12, I-20122, Milano, Italy

    Bruno Brambati M.D.

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© 1985 Springer-Verlag Berlin Heidelberg

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Gatti, R., Lombardo, C., Filocamo, M., Borrone, C., Porro, E. (1985). Comparison of the Activities of 15 Lysosomal Enzymes in Chorionic Villi and in Cultured Amniotic Fluid Cells. In: Fraccaro, M., Simoni, G., Brambati, B. (eds) First Trimester Fetal Diagnosis. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-70707-0_36

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  • DOI: https://doi.org/10.1007/978-3-642-70707-0_36

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-540-15785-4

  • Online ISBN: 978-3-642-70707-0

  • eBook Packages: Springer Book Archive

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