Literature DB >> 5581981

Ganglioside GM2 storage diseases: hexosaminidase deficiencies in cultured fibroblasts.

S Okada, M L Veath, J Leroy, J S O'Brien.   

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Year:  1971        PMID： 5581981      PMCID： PMC1706637     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  6 in total

1.  Variation of beta-N-acetylhexosaminidase-pattern in Tay-Sachs disease.

Authors:  K Sandhoff
Journal:  FEBS Lett       Date:  1969-08       Impact factor: 4.124

2.  Protein measurement with the Folin phenol reagent.

Authors:  O H LOWRY; N J ROSEBROUGH; A L FARR; R J RANDALL
Journal:  J Biol Chem       Date:  1951-11       Impact factor: 5.157

3.  Five gangliosidoses.

Authors:  J S O'Brien
Journal:  Lancet       Date:  1969-10-11       Impact factor: 79.321

4.  Tay-sachs disease. Detection of heterozygotes and homozygotes by serum hexosaminidase assay.

Authors:  J S O'Brien; S Okada; A Chen; D L Fillerup
Journal:  N Engl J Med       Date:  1970-07-02       Impact factor: 91.245

5.  Tay-Sachs disease: generalized absence of a beta-D-N-acetylhexosaminidase component.

Authors:  S Okada; J S O'Brien
Journal:  Science       Date:  1969-08-15       Impact factor: 47.728

6.  Mutant enzymatic and cytological phenotypes in cultured human fibroblasts.

Authors:  J G Leroy; R I Demars
Journal:  Science       Date:  1967-08-18       Impact factor: 47.728
  6 in total
  16 in total

1.  Hexosaminidase assays.

Authors:  Michaela Wendeler; Konrad Sandhoff
Journal:  Glycoconj J       Date:  2009-11       Impact factor: 2.916

Review 2.  Glycosphingolipid hydrolases: properties and molecular genetics.

Authors:  M Wan Ho; A G Norden; J A Alhadeff; J S O'Brien
Journal:  Mol Cell Biochem       Date:  1977-10-07       Impact factor: 3.396

3.  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

4.  Apparent deficiency of hexosaminidase A in healthy members of a family with Tay-Sachs disease.

Authors:  R Navon; B Padeh; A Adam
Journal:  Am J Hum Genet       Date:  1973-05       Impact factor: 11.025

5.  Globoid cell (Krabbe's) leukodystrophy: heterozygote detection in cultured skin fibroblasts.

Authors:  D F Farrell; A K Percy; M M Kaback; G M McKhann
Journal:  Am J Hum Genet       Date:  1973-11       Impact factor: 11.025

6.  -glucuronidase activity in fibroblasts cultured from persons with and without cystic fibrosis.

Authors:  S B Russell; J D Russell; J W Littlefield
Journal:  J Med Genet       Date:  1971-12       Impact factor: 6.318

7.  Variability of acid hydrolase activities in cultured skin fibroblasts and amniotic fluid cells.

Authors:  E Young; P Willcox; A E Whitfield; A D Patrick
Journal:  J Med Genet       Date:  1975-09       Impact factor: 6.318

8.  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

9.  Prenatal diagnosis of genetic disorders.

Authors:  M F Niermeijer; E S Sachs; M Jahodova; C Tichelaar-Klepper; W J Kleijer; H Galjaard
Journal:  J Med Genet       Date:  1976-06       Impact factor: 6.318

10.  Sanfilippo syndrome: profound deficiency of alpha-acetylglucosaminidase activity in organs and skin fibroblasts from type-B patients.

Authors:  J S O'Brien
Journal:  Proc Natl Acad Sci U S A       Date:  1972-07       Impact factor: 11.205
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