Literature DB >> 4716656

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

J Vidgoff, N R Buist, J S O'Brien.   

Abstract

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Year:  1973        PMID： 4716656      PMCID： PMC1762453     

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


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  26 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.  DISC ELECTROPHORESIS. II. METHOD AND APPLICATION TO HUMAN SERUM PROTEINS.

Authors:  B J DAVIS
Journal:  Ann N Y Acad Sci       Date:  1964-12-28       Impact factor: 5.691

3.  Quantitative estimation of sialic acids. II. A colorimetric resorcinol-hydrochloric acid method.

Authors:  L SVENNERHOLM
Journal:  Biochim Biophys Acta       Date:  1957-06

4.  Enzymic differentiation between different types of Tay-Sachs disease of similar clinical appearance.

Authors:  J Clausen; J C Melchior; P Paerregaard
Journal:  Eur Neurol       Date:  1972       Impact factor: 1.710

5.  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

6.  The N-acetyl- -D-hexosaminidases of calf and human brain.

Authors:  D Robinson; T W Jordan; T Horsburgh
Journal:  J Neurochem       Date:  1972-08       Impact factor: 5.372

7.  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

8.  Diagnosis of gaucher's disease and niemann-pick disease with small samples of venous blood.

Authors:  J P Kampine; R O Brady; J N Kanfer; M Feld; D Shapiro
Journal:  Science       Date:  1967-01-06       Impact factor: 47.728

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

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

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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  25 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

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.  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

8.  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

9.  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

10.  A pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: implications for carrier screening.

Authors:  B L Triggs-Raine; E H Mules; M M Kaback; J S Lim-Steele; C E Dowling; B R Akerman; M R Natowicz; E E Grebner; R Navon; J P Welch
Journal:  Am J Hum Genet       Date:  1992-10       Impact factor: 11.025
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