Prenatal diagnosis of galactosialidosis
- 1 February 1988
- journal article
- research article
- Published by Wiley in Prenatal Diagnosis
- Vol. 8 (2) , 151-155
- https://doi.org/10.1002/pd.1970080209
Abstract
The second prenatal diagnosis of galactosialidosis is reported. Neuraminidase and β‐galactosidase activities in cultured amniotic cells were deficient, this being confirmed by skin fibroblast enzyme assay on the affected fetus after interruption of the pregnancy. Cultured placental cells demonstrated the same enzyme deficiencies. Analysis of deproteinized amniotic fluid showed the presence of abnormal oligosaccharides specific for a‐neuraminidase deficiency.Keywords
This publication has 14 references indexed in Scilit:
- Prenatal diagnosis of infantile GM 2 gangliosidosis type II (sandhoff disease) by detection of N‐acetylglucosaminyl‐oligosaccharides in amniotic fluid with high‐performance liquid chromatographyPrenatal Diagnosis, 1986
- Human placental neuraminidaseEuropean Journal of Biochemistry, 1985
- Combined sialidase (neuraminidase) and β‐galactosidase deficiency. Clinical, morphological and enzymological observations in a patientClinical Genetics, 1984
- Mucolipidosis I: Studies of sialidase activity and a prenatal diagnosisClinica Chimica Acta; International Journal of Clinical Chemistry, 1981
- Genetic heterogeneity in human neuraminidase deficiencyNature, 1980
- Prenatal diagnosis of sialidosis with combined neuraminidase and ø‐galactosidase deficiencyClinical Genetics, 1979
- Macular cherry-red spots and myoclonus with dementia: Coexistent neuraminidase and β-galactosidase deficienciesBiochemical and Biophysical Research Communications, 1978
- Neuraminidase deficiency in the cherry red spot-myoclonus syndromeBiochemical and Biophysical Research Communications, 1977
- Prenatal diagnosis of mucolipidosis II (I-cell disease)European Journal of Nuclear Medicine and Molecular Imaging, 1976
- Oligosaccharides in urine of patients with glycoprotein storage diseases: I. Rapid detection by thin-layer chromatographyClinica Chimica Acta; International Journal of Clinical Chemistry, 1975