173 related articles for article (PubMed ID: 817596)
1. Studies on complementation of beta hexosaminidase deficiency in human GM2 gangliosidosis.
Rattazzi MC; Brown JA; Davidson RG; Shows TB
Am J Hum Genet; 1976 Mar; 28(2):143-54. PubMed ID: 817596
[TBL] [Abstract][Full Text] [Related]
2. Tay-Sachs and Sandhoff-Jatzkewitz diseases: complementation of hexosaminidase A deficiency by somatic cell hybridization.
Rattazzi MC; Brown JA; Davidson RG; Shows TB
Birth Defects Orig Artic Ser; 1975; 11(3):232-5. PubMed ID: 812568
[No Abstract] [Full Text] [Related]
3. Hexosaminidase isozyme in type O Gm2 gangliosidosis (Sandhoff-Jatzkewitz disease).
Beutler E; Kuhl W; Comings D
Am J Hum Genet; 1975 Sep; 27(5):628-38. PubMed ID: 808963
[TBL] [Abstract][Full Text] [Related]
4. Juvenile Sandhoff Disease: complementation tests with Sandhoff and Tay-Sachs disease using polyethylene glycol-induced cell fusion.
Wood S
Hum Genet; 1978 Apr; 41(3):325-9. PubMed ID: 417993
[TBL] [Abstract][Full Text] [Related]
5. Characterization of Hex S, the major residual beta hexosaminidase activity in type O Gm2 gangliosidosis (Sandhoff-Jatzkewitz disease).
Ikonne JU; Rattazzi MC; Desnick RJ
Am J Hum Genet; 1975 Sep; 27(5):639-50. PubMed ID: 240271
[TBL] [Abstract][Full Text] [Related]
6. Genetic complementation in somatic cell hybrids of four variants of infantile GM2 gangliosidosis.
Sonderfeld S; Brendler S; Sandhoff K; Galjaard H; Hoogeveen AT
Hum Genet; 1985; 71(3):196-200. PubMed ID: 2933318
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Ganglioside GM2 N-acetyl-beta-D-galactosaminidase and asialo GM2 (GA2) N-acetyl-beta-D-galactosaminidase; studies in human skin fibroblasts.
O'Brien JS; Norden GW; Miller AL; Frost RG; Kelly TE
Clin Genet; 1977 Mar; 11(3):171-83. PubMed ID: 13950
[TBL] [Abstract][Full Text] [Related]
9. Tay-Sachs and Sandhoff-Jatzkewitz diseases: complementation of hexosaminidase A deficiency by somatic cell hybridization.
Rattazzi MC; Brown JA; Davidson RG; Shows TB
Cytogenet Cell Genet; 1975; 14(3-6):402-5. PubMed ID: 1192826
[No Abstract] [Full Text] [Related]
10. Alpha-locus hexosaminidase genetic compound with juvenile gangliosidosis phenotype: clinical, genetic, and biochemical studies.
Johnson WG; Cohen CS; Miranda AF; Waran SP; Chutorian AM
Am J Hum Genet; 1980 Jul; 32(4):508-18. PubMed ID: 6772023
[TBL] [Abstract][Full Text] [Related]
11. A study of hexosaminadases in interspecific hybrids and in GM2 gangliosidosis with a discussion on their genetic control.
Van Cong N; Weil D; Rebourcet R; Frézal J; Richard-Mollard AM
Ann Hum Genet; 1975 Jul; 39(1):111-23. PubMed ID: 810068
[TBL] [Abstract][Full Text] [Related]
12. [Genetic study of GM2 gangliosidosis (Tay-Sachs and Sandhoff) by the study of the hexosaminidases of the Sandhoff-rodents hybrids (mouse and hamster)].
Weil D; Van Cong N; Rebourcet R; Frézal J
Ann Genet; 1975 Sep; 18(3):163-8. PubMed ID: 810067
[TBL] [Abstract][Full Text] [Related]
13. Detection of GM2-gangliosidosis (Tay-Sachs and Sandhoff disease) gene carriers by serum hexosaminidase assay.
Molzer B; Bernheimer H
Clin Chim Acta; 1976 Nov; 73(1):163-9. PubMed ID: 826357
[TBL] [Abstract][Full Text] [Related]
14. Ganglioside loading of cultured fibroblasts: a provocative method for the diagnosis of the GM2 gangliosidoses.
Charrow J; Binns HJ
Clin Chim Acta; 1986 Apr; 156(1):41-9. PubMed ID: 2938852
[TBL] [Abstract][Full Text] [Related]
15. Western blotting analysis of the beta-hexosaminidase alpha- and beta-subunits in cultured fibroblasts from cases of various forms of GM2 gangliosidosis.
Utsumi K; Tsuji A; Kase R; Tanaka A; Tanaka T; Uyama E; Ozawa T; Sakuraba H; Komaba Y; Kawabe M; Iino Y; Katayama Y
Acta Neurol Scand; 2002 Jun; 105(6):427-30. PubMed ID: 12027830
[TBL] [Abstract][Full Text] [Related]
16. Correction of I-cell defect by hybridization with lysosomal enzyme deficient human fibroblasts.
d'Azzo A; Halley DJ; Hoogeveen A; Galjaard H
Am J Hum Genet; 1980 Jul; 32(4):519-28. PubMed ID: 6772024
[TBL] [Abstract][Full Text] [Related]
17. GM2-ganglioside metabolism in hexosaminidase A deficiency states: determination in situ using labeled GM2 added to fibroblast cultures.
Raghavan SS; Krusell A; Krusell J; Lyerla TA; Kolodny EH
Am J Hum Genet; 1985 Nov; 37(6):1071-82. PubMed ID: 2934978
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Molecular basis of adult-onset and chronic GM2 gangliosidoses in patients of Ashkenazi Jewish origin: substitution of serine for glycine at position 269 of the alpha-subunit of beta-hexosaminidase.
Paw BH; Kaback MM; Neufeld EF
Proc Natl Acad Sci U S A; 1989 Apr; 86(7):2413-7. PubMed ID: 2522660
[TBL] [Abstract][Full Text] [Related]
20. Nonuniform deficiency of hexosaminidase A in tissues and fluids of two unrelated individuals.
Thomas GH; Raghavan S; Kolodny EH; Frisch A; Neufeld EF; O'Brien JS; Reynolds LW; Miller CS; Shapiro J; Kazazian HH; Heller RH
Pediatr Res; 1982 Mar; 16(3):232-7. PubMed ID: 7063277
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
