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2. GM2 gangliosidoses: a review of cases confirmed by beta-N-acetylhexosaminidase assay. Christopher R; Rangaswamy GR; Shetty KT Indian J Pediatr; 1995; 62(4):479-83. PubMed ID: 10829909 [TBL] [Abstract][Full Text] [Related]
3. 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]
4. GM2 gangliosidosis with a motor neuron disease phenotype: clinical heterogeneity of hexosaminidase deficiency disease. Federico A Adv Exp Med Biol; 1987; 209():19-23. PubMed ID: 2953177 [No Abstract] [Full Text] [Related]
5. Chromatofocusing coupled with automated assay for beta-hexosaminidase isoenzymes in GM2 gangliosidosis. Orlacchio A; Maffei C; Emiliani C; Coppa GV; Felici L Experientia; 1985 Apr; 41(4):525-7. PubMed ID: 3157597 [TBL] [Abstract][Full Text] [Related]
6. Usefulness of 4-methylumbelliferyl-6-sulfo-2-acetamido-2-deoxy-beta-D-glucopyrano sid e for the diagnosis of GM2 gangliosidoses in leukocytes. Inui K; Wenger DA Clin Genet; 1984 Oct; 26(4):318-21. PubMed ID: 6238730 [TBL] [Abstract][Full Text] [Related]
7. Production of recombinant beta-hexosaminidase A, a potential enzyme for replacement therapy for Tay-Sachs and Sandhoff diseases, in the methylotrophic yeast Ogataea minuta. Akeboshi H; Chiba Y; Kasahara Y; Takashiba M; Takaoka Y; Ohsawa M; Tajima Y; Kawashima I; Tsuji D; Itoh K; Sakuraba H; Jigami Y Appl Environ Microbiol; 2007 Aug; 73(15):4805-12. PubMed ID: 17557860 [TBL] [Abstract][Full Text] [Related]
11. [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]
12. Tay-Sachs and Sandhoff diseases: enzymatic diagnosis in dried blood spots on filter paper: retrospective diagnoses in newborn-screening cards. Chamoles NA; Blanco M; Gaggioli D; Casentini C Clin Chim Acta; 2002 Apr; 318(1-2):133-7. PubMed ID: 11880123 [TBL] [Abstract][Full Text] [Related]
13. Impaired degradation of chondroitin sulfate in GM2-gangliosidosis. Yutaka T; Kato T; Okada S; Yabuuci H Clin Genet; 1982 Oct; 22(4):165-71. PubMed ID: 6217929 [TBL] [Abstract][Full Text] [Related]
14. Biochemical and molecular aspects of late-onset GM2-gangliosidosis: B1 variant as a prototype. Suzuki K; Vanier MT Dev Neurosci; 1991; 13(4-5):288-94. PubMed ID: 1840099 [TBL] [Abstract][Full Text] [Related]
15. Assay of the GM2-ganglioside cleaving hexosaminidase activity of skin fibroblasts for GM2-gangliosidoses. Harzer K Clin Chim Acta; 1983 Nov; 135(1):89-93. PubMed ID: 6228344 [No Abstract] [Full Text] [Related]
16. [Adult form of GM2-gangliosidosis: a man and 2 sisters with hexosaminidase-A and -B deficiency (Sandhoff disease) and literature review]. Schnorf H; Bosshard NU; Gitzelmann R; Spycher MA; Isler P; Waespe W Schweiz Med Wochenschr; 1996 May; 126(18):757-64. PubMed ID: 8693300 [TBL] [Abstract][Full Text] [Related]
17. The juvenile and chronic forms of GM2 gangliosidosis: clinical and enzymatic heterogeneity. Specola N; Vanier MT; Goutières F; Mikol J; Aicardi J Neurology; 1990 Jan; 40(1):145-50. PubMed ID: 2136940 [TBL] [Abstract][Full Text] [Related]
18. Sandhoff disease: a prevalent form of infantile GM2 gangliosidosis in Lebanon. Der Kaloustian VM; Khoury MJ; Hallal R; Idriss ZH; Deeb ME; Wakid NW; Haddad FS Am J Hum Genet; 1981 Jan; 33(1):85-9. PubMed ID: 7468596 [TBL] [Abstract][Full Text] [Related]