Literature DB >> 5450163

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

J Friedland, L Schneck, A Saifer, M Pourfar, B W Volk.   

Abstract

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Year:  1970        PMID： 5450163     DOI： 10.1016/0009-8981(70)90064-1

Source DB:  PubMed          Journal:  Clin Chim Acta        ISSN： 0009-8981            Impact factor:   3.786


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  8 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.  Separation of three isoenzymes of N-acetyl-beta-D-hexosaminidase from human tissues by cellulose acetate membrane electrophoresis.

Authors:  A Westwood; D N Raine
Journal:  J Clin Pathol       Date:  1974-11       Impact factor: 3.411

4.  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

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.  Inheritance of the enzyme deficiency in three neurolipidoses: variant 0 of Tay-Sachs disease (Sandhoff's disease), classic Tay-Sachs disease, and metachromatic leukodystrophy. Identification of the heterozygous carriers.

Authors:  K Harzer
Journal:  Humangenetik       Date:  1973

7.  [Enzymatic studies on the blood of carriers of a Tay-Sachs disease variant (variant O)].

Authors:  K Harzer; K Sandhoff; H Schall; F Kollmann
Journal:  Klin Wochenschr       Date:  1971-11-01

8.  [Juvenile GM2 gangliosidosis with altered substrate specificity of hexosaminidase A (author's transl)].

Authors:  J Zerfowski; K Sandhoff
Journal:  Acta Neuropathol       Date:  1974-03-26       Impact factor: 17.088
  8 in total

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