184 related articles for article (PubMed ID: 215359)
1. Use of microtechniques for the detection of lysosomal enzyme disorders: Tay-Sachs disease, Gm1-gangliosidosis and Fabry disease.
Bladon MT; Milunsky A
Clin Genet; 1978 Dec; 14(6):359-66. PubMed ID: 215359
[TBL] [Abstract][Full Text] [Related]
2. Microenzymatic assays for lysosomal enzymes in primary amniotic fluid cell cultures.
Bladon MT; Milunsky A
Clin Chim Acta; 1980 Aug; 105(3):325-34. PubMed ID: 6250742
[TBL] [Abstract][Full Text] [Related]
3. Prenatal diagnosis of GM2 gangliosidosis with high residual hexosaminidase A activity (variant B1; pseudo AB variant).
Conzelmann E; Nehrkorn H; Kytzia HJ; Sandhoff K; Macek M; Lehovský M; Elleder M; Jirásek A; Kobilková J
Pediatr Res; 1985 Nov; 19(11):1220-4. PubMed ID: 2933632
[TBL] [Abstract][Full Text] [Related]
4. Prenatal diagnosis of Tay-Sachs disease: studies on the reliability of hexosaminidase levels in amniotic fluid.
Grebner EE; Jackson LG
Am J Obstet Gynecol; 1979 Jul; 134(5):547-50. PubMed ID: 453293
[TBL] [Abstract][Full Text] [Related]
5. A modified method for prenatal diagnosis of Tay-Sachs disease in cell-free amniotic fluid.
Navon R; Wiselter J; Modan M
Monogr Hum Genet; 1978; 9():186-92. PubMed ID: 732839
[No Abstract] [Full Text] [Related]
6. Rapid detection of fetal Mendelian disorders: Tay-Sachs disease.
Guetta E; Peleg L
Methods Mol Biol; 2008; 444():147-59. PubMed ID: 18425478
[TBL] [Abstract][Full Text] [Related]
7. Prenatal diagnosis of Tay-Sachs disease in cell-free amniotic fluid.
Christomanou H; Cáp C; Sandhoff K
Klin Wochenschr; 1978 Nov; 56(22):1133-5. PubMed ID: 713433
[TBL] [Abstract][Full Text] [Related]
8. [Prenatal diagnosis of hereditary lysosomal diseases].
Mirenburg TV; Aronovich EL; Lebedeva TV; Akhunov VS; Krasnopol'skaia KD
Vopr Med Khim; 1988; 34(4):41-6. PubMed ID: 3143186
[TBL] [Abstract][Full Text] [Related]
9. Prenatal diagnosis of Tay-Sachs disease. Reflectometry of hexosaminidase A, B, and C/S bands on zymograms.
Kustermann-Kuhn B; Harzer K
Hum Genet; 1983; 65(2):172-5. PubMed ID: 6228513
[TBL] [Abstract][Full Text] [Related]
10. Tay-Sachs disease and normal cerebellar cells in culture: elevated levels of lysosomal enzymes in Tay-Sachs disease cells.
Hoffman LM; Brooks SE; Schneck L
J Neurosci Res; 1982; 8(1):49-55. PubMed ID: 6816949
[TBL] [Abstract][Full Text] [Related]
11. Prenatal diagnosis of GM2 gangliosidoses using a fluorogenic sulfated substrate.
Inui K; Wenger DA; Furukawa M; Suehara N; Yutaka Y; Okada S; Tanizawa O; Yabuuchi H
Clin Chim Acta; 1986 Jan; 154(2):145-50. PubMed ID: 3955840
[No Abstract] [Full Text] [Related]
12. Prenatal diagnosis of atypical Tay-Sachs disease by chorionic villi sampling.
Besançon AM; Belon JP; Castelnau L; Dumez Y; Poenaru L
Prenat Diagn; 1984; 4(5):365-70. PubMed ID: 6504850
[TBL] [Abstract][Full Text] [Related]
13. Prenatal diagnosis of Tay-Sachs disease with heat-labile beta-hexosaminidase B.
Momoi T; Kikuchi K; Shigematsu Y; Sudo M; Tanioka K
Clin Chim Acta; 1983 Oct; 133(3):331-4. PubMed ID: 6226459
[TBL] [Abstract][Full Text] [Related]
14. Cultured skin fibroblasts in lipidoses. Enzymatic, histochemical, and ultrastructural relationship in Fabry's Tay-Sachs, and Sandhoff's diseases.
Yuasa T; Fukuma M; Takashima S; Takaki R
Arch Pathol Lab Med; 1980 Jun; 104(6):321-7. PubMed ID: 6246846
[TBL] [Abstract][Full Text] [Related]
15. Prenatal diagnosis for Tay-Sachs disease using chorionic villus sampling.
Grebner EE; Jackson LG
Prenat Diagn; 1985; 5(5):313-20. PubMed ID: 2933645
[TBL] [Abstract][Full Text] [Related]
16. Synthesis of 4-methylumbelliferyl-beta-D-N-acetylglucosamine-6-sulfate and its use in classification of GM2 gangliosidosis genotypes.
Bayleran J; Hechtman P; Saray W
Clin Chim Acta; 1984 Nov; 143(2):73-89. PubMed ID: 6239713
[TBL] [Abstract][Full Text] [Related]
17. [Activity of glycosidases in amniotic fluid cell cultures].
Tsvetkova IV; Zolotukhina TV; Rozenfel'd EL; Rozovskiĭ IS
Vopr Med Khim; 1979; 25(2):214-8. PubMed ID: 442593
[TBL] [Abstract][Full Text] [Related]
18. A study on enzyme activities of some sphingolipidoses.
Ozkara HA; Arikan MC; Topçu M; Emre S; Renda Y
Turk J Pediatr; 1994; 36(3):215-21. PubMed ID: 7974812
[TBL] [Abstract][Full Text] [Related]
19. Intracellular degradation of sulforhodamine-GM1: use for a fluorescence-based characterization of GM2-gangliosidosis variants in fibroblasts and white blood cells.
Agmon V; Khosravi R; Marchesini S; Dinur T; Dagan A; Gatt S; Navon R
Clin Chim Acta; 1996 Mar; 247(1-2):105-20. PubMed ID: 8920231
[TBL] [Abstract][Full Text] [Related]
20. Enzyme studies in GM2 gangliosidiosis, and their application in prenatal diagnosis.
Kaur M; Verma IC
Indian J Pediatr; 1995; 62(4):485-9. PubMed ID: 10829910
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]