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23. 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]
24. Degradation of keratan sulfate by beta-N-acetylhexosaminidases in GM2-gangliosidosis. Yutaka T; Okada S; Kato T; Yabuuhi H Clin Genet; 1982 Mar; 21(3):196-202. PubMed ID: 6212169 [TBL] [Abstract][Full Text] [Related]
26. Spinocerebellar degeneration: hexosaminidase A and B deficiency in two adult sisters. Oonk JG; van der Helm HJ; Martin JJ Neurology; 1979 Mar; 29(3):380-4. PubMed ID: 571983 [TBL] [Abstract][Full Text] [Related]
27. Ultrastructure of the conjunctiva, skin, and gingiva: a case of Sandhoff's disease in a Jewish patient. Messer G; Harel S; Erlich B; Navon R; Nemet P; Sarnat H; Shomrat R; Legum C Arch Pathol Lab Med; 1980 Mar; 104(3):123-9. PubMed ID: 6243915 [TBL] [Abstract][Full Text] [Related]
28. Sandhoff disease in the elderly: a case study. García Morales L; Mustelier Bécquer RG; Pérez Joglar L; Zaldívar Vaillant T Amyotroph Lateral Scler Frontotemporal Degener; 2022 Feb; 23(1-2):137-138. PubMed ID: 33650927 [TBL] [Abstract][Full Text] [Related]
29. Human recombinant lysosomal β-Hexosaminidases produced in Pichia pastoris efficiently reduced lipid accumulation in Tay-Sachs fibroblasts. Espejo-Mojica AJ; Rodríguez-López A; Li R; Zheng W; Alméciga-Díaz CJ; Dulcey-Sepúlveda C; Combariza G; Barrera LA Am J Med Genet C Semin Med Genet; 2020 Dec; 184(4):885-895. PubMed ID: 33111489 [TBL] [Abstract][Full Text] [Related]
30. GM1 gangliosidosis, type II. Patel ZM; Iyer SS; Ambani LM; Suchak RH; Aggarwal RP Indian Pediatr; 1982 Feb; 19(2):185-7. PubMed ID: 7118242 [No Abstract] [Full Text] [Related]
31. Nomenclature of GM2-gangliosidoses. Nørby S Clin Genet; 1980 May; 17(5):320-2. PubMed ID: 7192191 [TBL] [Abstract][Full Text] [Related]
32. Genetic heterogeneity of the hexosaminidase deficiency diseases. Johnson WG Res Publ Assoc Res Nerv Ment Dis; 1983; 60():215-37. PubMed ID: 6337393 [No Abstract] [Full Text] [Related]
34. A novel mutation in the beta-hexosaminidase beta-subunit gene in a 14-month-old Korean boy with Sandhoff disease: first reported Korean case. Lee EH; Park JH; Coe CJ; Hahn SH Hum Mutat; 2000 Aug; 16(2):180-1. PubMed ID: 10923050 [No Abstract] [Full Text] [Related]
35. GM2 Gangliosidosis Variant 0 (Sandhoff Disease) in a Mixed-Breed Dog. Kohyama M; Yabuki A; Kawasaki Y; Kawaguchi H; Miura N; Kitano Y; Onitsuka T; Rahman MM; Miyoshi N; Yamato O J Am Anim Hosp Assoc; 2015; 51(6):396-400. PubMed ID: 26535459 [TBL] [Abstract][Full Text] [Related]
36. Chronic GM2 gangliosidosis type Sandhoff associated with a novel missense HEXB gene mutation causing a double pathogenic effect. Santoro M; Modoni A; Sabatelli M; Madia F; Piemonte F; Tozzi G; Ricci E; Tonali PA; Silvestri G Mol Genet Metab; 2007 May; 91(1):111-4. PubMed ID: 17251047 [TBL] [Abstract][Full Text] [Related]