205 related articles for article (PubMed ID: 6772023)
41. 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]
42. Two new mutations in a late infantile Tay-Sachs patient are both in exon 1 of the beta-hexosaminidase alpha subunit gene.
Harmon DL; Gardner-Medwin D; Stirling JL
J Med Genet; 1993 Feb; 30(2):123-8. PubMed ID: 8445615
[TBL] [Abstract][Full Text] [Related]
43. Late-onset hexosaminidase A and hexosaminidase A and B deficiency: family study and review.
Adams C; Green S
Dev Med Child Neurol; 1986 Apr; 28(2):236-43. PubMed ID: 2940136
[TBL] [Abstract][Full Text] [Related]
44. Gangliosidoses.
Patterson MC
Handb Clin Neurol; 2013; 113():1707-8. PubMed ID: 23622392
[TBL] [Abstract][Full Text] [Related]
45. Frequency of three Hex A mutant alleles among Jewish and non-Jewish carriers identified in a Tay-Sachs screening program.
Paw BH; Tieu PT; Kaback MM; Lim J; Neufeld EF
Am J Hum Genet; 1990 Oct; 47(4):698-705. PubMed ID: 2220809
[TBL] [Abstract][Full Text] [Related]
46. The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reported.
Maegawa GH; Stockley T; Tropak M; Banwell B; Blaser S; Kok F; Giugliani R; Mahuran D; Clarke JT
Pediatrics; 2006 Nov; 118(5):e1550-62. PubMed ID: 17015493
[TBL] [Abstract][Full Text] [Related]
47. High-resolution loading tests in the study of genetic heterogeneity in gangliosidosis fibroblasts.
Akhunov VS; Mirenburg TV; Krasnopolskaya XD
J Inherit Metab Dis; 1994; 17(1):104-11. PubMed ID: 8051915
[TBL] [Abstract][Full Text] [Related]
48. Diagnosis and molecular characterization of non-classic forms of Tay-Sachs disease in Brazil.
Rozenberg R; Kok F; Burin MG; Sá Miranda MC; Vasques C; Henriques-Souza AM; Giugliani R; Vainzof M; Pereira LV
J Child Neurol; 2006 Jun; 21(6):540-4. PubMed ID: 16948947
[TBL] [Abstract][Full Text] [Related]
49. Biochemical consequences of mutations causing the GM2 gangliosidoses.
Mahuran DJ
Biochim Biophys Acta; 1999 Oct; 1455(2-3):105-38. PubMed ID: 10571007
[TBL] [Abstract][Full Text] [Related]
50. 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]
51. [Late infantile and juvenile form of GM2-gangliosidosis variant B1].
Eirís J; Chabás A; Coll MJ; Castro-Gago M
Rev Neurol; 1999 Sep 1-15; 29(5):435-8. PubMed ID: 10584247
[TBL] [Abstract][Full Text] [Related]
52. The clinical aspects of adult hexosaminidase deficiencies.
Federico A; Palmeri S; Malandrini A; Fabrizi G; Mondelli M; Guazzi GC
Dev Neurosci; 1991; 13(4-5):280-7. PubMed ID: 1840098
[TBL] [Abstract][Full Text] [Related]
53. AB variant of infantile GM2 gangliosidosis: deficiency of a factor necessary for stimulation of hexosaminidase A-catalyzed degradation of ganglioside GM2 and glycolipid GA2.
Conzelmann E; Sandhoff K
Proc Natl Acad Sci U S A; 1978 Aug; 75(8):3979-83. PubMed ID: 99746
[TBL] [Abstract][Full Text] [Related]
54. Novel HEXA variants in Korean children with Tay-Sachs disease with regression of neurodevelopment from infancy.
Park JH; Ko JM; Kim MS; Kim MJ; Seong MW; Yoo T; Lim BC; Chae JH
Mol Genet Genomic Med; 2021 Jun; 9(6):e1677. PubMed ID: 33811753
[TBL] [Abstract][Full Text] [Related]
55. Screening for carriers of Tay-Sachs disease among Ashkenazi Jews. A comparison of DNA-based and enzyme-based tests.
Triggs-Raine BL; Feigenbaum AS; Natowicz M; Skomorowski MA; Schuster SM; Clarke JT; Mahuran DJ; Kolodny EH; Gravel RA
N Engl J Med; 1990 Jul; 323(1):6-12. PubMed ID: 2355960
[TBL] [Abstract][Full Text] [Related]
56. [Recent advances in molecular genetics of GM2 gangliosidosis].
Wakamatsu N
Nihon Rinsho; 1995 Dec; 53(12):2988-93. PubMed ID: 8577047
[TBL] [Abstract][Full Text] [Related]
57. Ultrastructural pathology of skin biopsy and fibroblast enzyme studies in a case of GM2-gangliosidosis with deficient hexosaminidase A and thermolabile hexosaminidase B.
Burck U; Harzer K; Goebel HH; Elze KL; Held KR; Carstens L
Neuropadiatrie; 1980 May; 11(2):161-75. PubMed ID: 6255371
[TBL] [Abstract][Full Text] [Related]
58. 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]
59. Tay-Sachs disease-causing mutations and neutral polymorphisms in the Hex A gene.
Myerowitz R
Hum Mutat; 1997; 9(3):195-208. PubMed ID: 9090523
[TBL] [Abstract][Full Text] [Related]
60. A new form of residual hexosaminidase activity in infantile Tay Sachs disease fibroblasts.
Hechtman P; Khoo K; Isaacs C
Clin Genet; 1983 Sep; 24(3):206-15. PubMed ID: 6226462
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]