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4. An electrophoretic variant of beta-galactosidase with altered catalytic properties in a patient with GM1 gangliosidosis. Norden AG; O'Brien JS Proc Natl Acad Sci U S A; 1975 Jan; 72(1):240-4. PubMed ID: 804170 [TBL] [Abstract][Full Text] [Related]
5. Localized beta-galactosidase deficiency. Occurrence in cerebellar ataxia with myoclonus epilepsy and macular cherry-red spot--a new variant of GM1-gangliosidosis? Yamamoto A; Adachi S; Kawamura S; Takahashi M; Kitani T Arch Intern Med; 1974 Oct; 134(4):627-34. PubMed ID: 4278184 [No Abstract] [Full Text] [Related]
7. Enzyme histochemical and ultrastructural alterations in the brains of Friesian calves with GM1 gangliosidosis. Sheahan BJ; Donnelly WJ Acta Neuropathol; 1974; 30(1):73-84. PubMed ID: 4217088 [No Abstract] [Full Text] [Related]
8. Sphingolipidoses in Turkey. Ozkara HA; Topçu M Brain Dev; 2004 Sep; 26(6):363-6. PubMed ID: 15275696 [TBL] [Abstract][Full Text] [Related]
9. Beta-galactosidase in tissue culture derived from human skin and bone marrow. Enzyme defect in GM1 gangliosidosis. Sloan HR; Uhlendorf BW; Jacobson CB; Fredrickson DS Pediatr Res; 1969 Nov; 3(6):532-7. PubMed ID: 5361691 [No Abstract] [Full Text] [Related]
10. Lactosylceramide beta-galactosidase in human sphingolipidoses. Evidence for two genetically distinct enzymes. Tanaka H; Suzuki K J Biol Chem; 1975 Mar; 250(6):2324-32. PubMed ID: 803971 [TBL] [Abstract][Full Text] [Related]
11. GM1-gangliosidosis without chondrodystrophy or visceromegaly. B-galactosidase deficiency with gangliosidosis and the excessive excretion of a keratan sulfate. Wolfe LS; Callahan J; Fawcett JS; Andermann F; Scriver CR Neurology; 1970 Jan; 20(1):23-44. PubMed ID: 4243740 [No Abstract] [Full Text] [Related]
12. [Enzyme diagnostics in lysosomal diseases with emphasis on sphingolipidoses]. Dreyfus JC; Poenaru L Arch Fr Pediatr; 1975; 32(6):503-14. PubMed ID: 810108 [TBL] [Abstract][Full Text] [Related]
13. Krabbe's globoid cell leucodystrophy. Studies on galactosylceramide beta-galactosidase and non-specific beta-galactosidase of leucocytes, cultured skin fibroblasts, and amniotic fluid cells. Besley GT; Bain AD J Med Genet; 1976 Jun; 13(3):195-9. PubMed ID: 819652 [TBL] [Abstract][Full Text] [Related]
14. Enzyme defects in the sphingolipidoses and their application to diagnosis. Brady RO Ann Clin Lab Sci (1971); 1972; 2(4):285-94. PubMed ID: 4342099 [No Abstract] [Full Text] [Related]
15. A comparison of the properties and bile salt specificities of galactosylceramide and lactosyl ceramide beta-galactosidase activities in human leucocytes and fibroblasts. Poulos A; Beckman K Clin Chim Acta; 1980 Feb; 101(2-3):277-85. PubMed ID: 6766828 [TBL] [Abstract][Full Text] [Related]
17. Enzymic differentiation between different types of Tay-Sachs disease of similar clinical appearance. Clausen J; Melchior JC; Paerregaard P Eur Neurol; 1972; 7(1):56-64. PubMed ID: 4336274 [No Abstract] [Full Text] [Related]
18. Leukocyte -galactosidase activity in GM 1 -gangliosidosis. Young E; Ellis RB; Patrick AD; Singer HS; Schafer IA Pediatrics; 1972 Sep; 50(3):502-3. PubMed ID: 5056438 [No Abstract] [Full Text] [Related]
19. [Lysosomal beta-galactosidase properties and the molecular genetics of GM1 gangliosidosis]. Vel'tishchev IuE; Kalaidzhieva LV Vopr Med Khim; 1979; 25(6):709-15. PubMed ID: 117628 [TBL] [Abstract][Full Text] [Related]
20. 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] [Next] [New Search]