Literature DB >> 5688464

Deficient hexosaminidase activity in an exceptional case of Tay-Sachs disease with additional storage of kidney globoside in visceral organs.

K Sandhoff, U Andreae, H Jatzkewitz.   

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Year:  1968        PMID: 5688464

Source DB:  PubMed          Journal:  Pathol Eur        ISSN: 0031-2967


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  31 in total

Review 1.  Biochemistry and genetics of gangliosidoses.

Authors:  K Sandhoff; H Christomanou
Journal:  Hum Genet       Date:  1979       Impact factor: 4.132

Review 2.  Basic findings and current developments in sphingolipidoses.

Authors:  H Pilz; R Heipertz; D Seidel
Journal:  Hum Genet       Date:  1979-03-12       Impact factor: 4.132

3.  Characterization of Hex S, the major residual beta hexosaminidase activity in type O Gm2 gangliosidosis (Sandhoff-Jatzkewitz disease).

Authors:  J U Ikonne; M C Rattazzi; R J Desnick
Journal:  Am J Hum Genet       Date:  1975-09       Impact factor: 11.025

4.  Lectin histochemistry of gangliosidosis. II. Neurovisceral tissues from patients with Sandhoff's disease.

Authors:  J Alroy; L S Adelman; C D Warren
Journal:  Acta Neuropathol       Date:  1988       Impact factor: 17.088

5.  Evidence for a hybrid hexosaminidase isoenzyme in heterozygotes for Sandhoff disease.

Authors:  J A Lowden
Journal:  Am J Hum Genet       Date:  1979-05       Impact factor: 11.025

6.  Gangliosidosis with total hexosaminidase deficiency: clinical, biochemical and ultrastructural studies and comparison with conventional cases of Tay-Sachs disease.

Authors:  G Fontaine; A Résibois; M Tondeur; G Jonniaux; J P Farriaux; W Voet; E Maillard; H Loeb
Journal:  Acta Neuropathol       Date:  1973-01-30       Impact factor: 17.088

7.  Late onset GM2-gangliosidosis. Clinical, pathological, and biochemical studies on 8 patients.

Authors:  E M Brett; R B Ellis; L Haas; J U Ikonne; B D Lake; A D Patrick; R Stephens
Journal:  Arch Dis Child       Date:  1973-10       Impact factor: 3.791

8.  [Chance and discovery in research on the cause of infantile amaurotic idiocy].

Authors:  H Jatzkewitz
Journal:  Naturwissenschaften       Date:  1981-05

9.  Studies on complementation of beta hexosaminidase deficiency in human GM2 gangliosidosis.

Authors:  M C Rattazzi; J A Brown; R G Davidson; T B Shows
Journal:  Am J Hum Genet       Date:  1976-03       Impact factor: 11.025

10.  Ganglioside GM2 N-acetyl-beta-D-galactosaminidase activity in cultured fibroblasts of late-infantile and adult GM2 gangliosidosis patients and of healthy probands with low hexosaminidase level.

Authors:  E Conzelmann; H J Kytzia; R Navon; K Sandhoff
Journal:  Am J Hum Genet       Date:  1983-09       Impact factor: 11.025

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