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  Volume: 34  Issue: 4  Pages: 41-46
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.
Download PDF:
Citation:

Mirenburg, T. V., Aronovich, E. L., Lebedeva, T. V., Akhunov, V. S., Krasnopol'skaia, K. D. (1988). Prenatal diagnosis of hereditary lysosomal diseases. Voprosy meditsinskoi khimii, 34(4), 41-46.
References
 2002 (vol 48)
 2001 (vol 47)
 2000 (vol 46)
 1999 (vol 45)
 1998 (vol 44)
 1997 (vol 43)
 1996 (vol 42)
 1995 (vol 41)
 1994 (vol 40)
 1993 (vol 39)
 1992 (vol 38)
 1991 (vol 37)
 1990 (vol 36)
 1989 (vol 35)
 1988 (vol 34)
 1987 (vol 33)
 1986 (vol 32)
 1985 (vol 31)