Voprosy meditsinskoi khimii (ISSN 0042-8809)

Prenatal diagnosis of hereditary lysosomal diseases

   
Mirenburg T.V., Aronovich E.L., Lebedeva T.V., Akhunov V.S., Krasnopol'skaia K.D.
PubMed Id: 3143186
Year: 1988 vol: 34  issue:4  pages: 41-46
Abstract: Prenatal diagnosis was carried out in 10 families suffering from lysosomal diseases: Tay-Sachs disease--5 families, Sandhoff disease--1 family, GM1-gangliosidosis--1 family and Hunter disease--3 families. Diagnosis of Tay-Sachs disease was excluded in fetuses of two families, Sandhoff disease--in one family, GM1-gangliosidosis--in one family, Hunter disease--in two families. Tay-Sachs disease was found in two fetuses and in one neonate. In two fetuses was found Hunter disease (twin pregnancy). The results of prenatal diagnosis were corroborated by postnatal studies of the neonates funicular blood and of autopsies of the aborted fetuses tissues. Application of several independent procedures for prenatal diagnosis of hereditary lysosomal diseases enabled to exclude erroneous diagnosis.
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Reference: Mirenburg T.V., Aronovich E.L., Lebedeva T.V., Akhunov V.S., Krasnopol'skaia K.D., Prenatal diagnosis of hereditary lysosomal diseases, Voprosy meditsinskoi khimii, 1988, vol: 34(4), 41-46.
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