Literature DB >> 4704860

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

R Navon, B Padeh, A Adam.   

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Year:  1973        PMID： 4704860      PMCID： PMC1762538     

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


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  13 in total

1.  The hydrolysis of Tay-Sachs ganglioside (TSG) by human N-acetyl-beta-D-hexosaminidase A.

Authors:  K Sandhoff
Journal:  FEBS Lett       Date:  1970-12-18       Impact factor: 4.124

2.  Urinary test for identification of Tay-Sachs genotypes.

Authors:  R Navon; B Padeh
Journal:  J Pediatr       Date:  1972-06       Impact factor: 4.406

3.  Identification of Tay-Sachs disease carriers by acrylamide gel electrophoresis.

Authors:  J Friedland; L Schneck; A Saifer; M Pourfar; B W Volk
Journal:  Clin Chim Acta       Date:  1970-06       Impact factor: 3.786

4.  Juvenile GM2 gangliosidosis: partial deficiency of hexosaminidase A.

Authors:  S Okada; M L Veath; J S O'Brien
Journal:  J Pediatr       Date:  1970-12       Impact factor: 4.406

5.  Detection of Tay-Sachs disease heterozygotes by assay of hexosaminidase A in serum and leukocytes.

Authors:  Y Suzuki; P H Berman; K Suzuki
Journal:  J Pediatr       Date:  1971-04       Impact factor: 4.406

6.  Diagnosis of Tay-Sachs disease by hexosaminidase activity in leukocytes and amniotic fluid cells.

Authors:  B Padeh; R Navon
Journal:  Isr J Med Sci       Date:  1971-02

7.  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

8.  N-Acetyl-beta-glucosaminidases in human spleen.

Authors:  D Robinson; J L Stirling
Journal:  Biochem J       Date:  1968-04       Impact factor: 3.857

9.  Prenatal diagnosis of Tay-Sachs genotypes.

Authors:  R Navon; B Padeh
Journal:  Br Med J       Date:  1971-10-02

10.  Tay-Sachs disease: prenatal diagnosis.

Authors:  J S O'Brien; S Okada; D L Fillerup; M L Veath; B Adornato; P H Brenner; J G Leroy
Journal:  Science       Date:  1971-04-02       Impact factor: 47.728
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  23 in total

Review 1.  Biochemistry and genetics of gangliosidoses.

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

2.  Achalasia in a patient with adult-onset Tay-Sachs disease.

Authors:  Jeffrey W Nathanson; Charles S Winans
Journal:  Dig Dis Sci       Date:  2006-01       Impact factor: 3.199

Review 3.  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

4.  Characterization of a variant of beta-hexosaminidase: "hexosaminidase Paris".

Authors:  J C Dreyfus; L Poenaru; M Vibert; N Ravise; J Boue
Journal:  Am J Hum Genet       Date:  1977-05       Impact factor: 11.025

5.  Low levels of beta hexosaminidase A in healthy individuals with apparent deficiency of this enzyme.

Authors:  R Navon; B Geiger; Y B Yoseph; M C Rattazzi
Journal:  Am J Hum Genet       Date:  1976-07       Impact factor: 11.025

Review 6.  The biochemical genetics of the hexosaminidase system in man.

Authors:  E Beutler
Journal:  Am J Hum Genet       Date:  1979-03       Impact factor: 11.025

7.  Absence of -N-acetyl-D-hexosaminidase A activity in a healthy woman.

Authors:  J Vidgoff; N R Buist; J S O'Brien
Journal:  Am J Hum Genet       Date:  1973-07       Impact factor: 11.025

8.  Apparent hexosaminidase B deficiency in two healthy members of a pedigree.

Authors:  P Hechtman; A Rowlands
Journal:  Am J Hum Genet       Date:  1979-07       Impact factor: 11.025

9.  Characterization of unusual hexosaminidase A (HEX A) deficient human mutants.

Authors:  J S O'Brien; L Tennant; M L Veath; C R Scott; W E Bucknall
Journal:  Am J Hum Genet       Date:  1978-11       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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