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Your search keyword '"Tay-Sachs Disease diagnosis"' showing total 15 results

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15 results on '"Tay-Sachs Disease diagnosis"'

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1. Late-onset Tay-Sachs disease presenting with a neuromuscular phenotype-a case series.

2. The incidence and carrier frequency of Tay-Sachs disease in the French-Canadian population of Quebec based on retrospective data from 24 years, 1992-2015.

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3. Prenatal enzymatic diagnosis of lysosomal storage diseases using cultured amniotic cells, uncultured chorionic villus samples, and fetal blood cells: Hacettepe experience.

4. Patients' reactions and follow-up testing decisions related to Tay-Sachs (HEXA) variants of uncertain significance results.

5. Real-time PCR with molecular beacons provides a highly accurate assay for detection of Tay-Sachs alleles in single cells.

6. Prenatal diagnosis of GM2-gangliosidosis B1 variant.

7. High-resolution loading tests in the study of genetic heterogeneity in gangliosidosis fibroblasts.

8. Identification of GM2-gangliosidosis B1 variant carriers.

9. Use of 4-methylumbelliferyl-6-sulpho-2-acetamido-2-deoxy-beta- D-glucopyranoside for prenatal diagnosis of Tay-Sachs disease using chorionic villi.

10. Adult-onset GM2 gangliosidosis diagnosed in a fetus.

12. Comparative study of 15 lysosomal enzymes in chorionic villi and cultured amniotic fluid cells. Early prenatal diagnosis in seven pregnancies at risk for lysosomal storage diseases.

13. Prenatal diagnosis for Tay-Sachs disease using chorionic villus sampling.

14. Prenatal diagnosis of atypical Tay-Sachs disease by chorionic villi sampling.

15. Immunohistochemical demonstration of GM2-ganglioside in the central nervous system of a 19-week-old fetus of Tay-Sachs disease.