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

作者信息

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

出版信息

Clin Chim Acta. 1970 Jun;28(3):397-402. doi: 10.1016/0009-8981(70)90064-1.

DOI:10.1016/0009-8981(70)90064-1

PMID:5450163

Abstract

摘要

相似文献

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

Clin Chim Acta. 1970 Jun;28(3):397-402. doi: 10.1016/0009-8981(70)90064-1.

Separation of N-acetyl- -D-hexosaminamidase-isoenzymes from human brain and leukocytes by cellulose acetate paper electrophoresis: a simple procedure for the diagnosis of Tay-Sachs disease.

Isr J Med Sci. 1971 Sep;7(9):1086-9.

Prenatal diagnosis of Tay-Sachs genotypes.

Br Med J. 1971 Oct 2;4(5778):17-20. doi: 10.1136/bmj.4.5778.17.

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

Isr J Med Sci. 1971 Feb;7(2):259-63.

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

J Pediatr. 1971 Apr;78(4):643-7. doi: 10.1016/s0022-3476(71)80467-5.

Urinary test for identification of Tay-Sachs genotypes.

J Pediatr. 1972 Jun;80(6):1026-30. doi: 10.1016/s0022-3476(72)80020-9.

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

Science. 1969 Aug 15;165(3894):698-700. doi: 10.1126/science.165.3894.698.

A screening program for Tay-Sachs disease in Israel.

Isr J Med Sci. 1973 Sep-Oct;9(9):1330-4.

Hexosaminidase A in tears and saliva for rapid identification of Tay-Sachs disease and its carriers.

Lancet. 1973 Nov 17;2(7838):116-9.

Caveats of antenatal diagnosis of Tay-Sachs disease.

Am J Obstet Gynecol. 1973 Feb 15;115(4):554-5.

引用本文的文献

Advances in Diagnosis, Pathological Mechanisms, Clinical Impact, and Future Therapeutic Perspectives in Tay-Sachs Disease.

Neurol Int. 2025 Jun 25;17(7):98. doi: 10.3390/neurolint17070098.

Diagnostic Tips from a Video Series and Literature Review of Patients with Late-Onset Tay-Sachs Disease.

Tremor Other Hyperkinet Mov (N Y). 2022 Dec 27;12:34. doi: 10.5334/tohm.726. eCollection 2022.

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

Klin Wochenschr. 1971 Nov 1;49(21):1189-91. doi: 10.1007/BF01732464.

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.

Humangenetik. 1973;20(1):9-24. doi: 10.1007/BF00280871.

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

Am J Hum Genet. 1973 Jul;25(4):372-81.

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

Am J Hum Genet. 1973 May;25(3):287-93.

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

J Clin Pathol. 1974 Nov;27(11):913-5. doi: 10.1136/jcp.27.11.913.

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

Acta Neuropathol. 1974 Mar 26;27(3):225-32. doi: 10.1007/BF00687632.

Biochemistry and genetics of gangliosidoses.

Hum Genet. 1979;50(2):107-43. doi: 10.1007/BF00390234.

Basic findings and current developments in sphingolipidoses.

Hum Genet. 1979 Mar 12;47(2):113-34. doi: 10.1007/BF00273194.

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

作者信息

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

出版信息

Clin Chim Acta. 1970 Jun;28(3):397-402. doi: 10.1016/0009-8981(70)90064-1.

DOI:10.1016/0009-8981(70)90064-1

PMID:5450163

Abstract

摘要

相似文献

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

Clin Chim Acta. 1970 Jun;28(3):397-402. doi: 10.1016/0009-8981(70)90064-1.

Separation of N-acetyl- -D-hexosaminamidase-isoenzymes from human brain and leukocytes by cellulose acetate paper electrophoresis: a simple procedure for the diagnosis of Tay-Sachs disease.

Isr J Med Sci. 1971 Sep;7(9):1086-9.

Prenatal diagnosis of Tay-Sachs genotypes.

Br Med J. 1971 Oct 2;4(5778):17-20. doi: 10.1136/bmj.4.5778.17.

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

Isr J Med Sci. 1971 Feb;7(2):259-63.

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

J Pediatr. 1971 Apr;78(4):643-7. doi: 10.1016/s0022-3476(71)80467-5.

Urinary test for identification of Tay-Sachs genotypes.

J Pediatr. 1972 Jun;80(6):1026-30. doi: 10.1016/s0022-3476(72)80020-9.

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

Science. 1969 Aug 15;165(3894):698-700. doi: 10.1126/science.165.3894.698.

A screening program for Tay-Sachs disease in Israel.

Isr J Med Sci. 1973 Sep-Oct;9(9):1330-4.

Hexosaminidase A in tears and saliva for rapid identification of Tay-Sachs disease and its carriers.

Lancet. 1973 Nov 17;2(7838):116-9.

Caveats of antenatal diagnosis of Tay-Sachs disease.

Am J Obstet Gynecol. 1973 Feb 15;115(4):554-5.

引用本文的文献

Advances in Diagnosis, Pathological Mechanisms, Clinical Impact, and Future Therapeutic Perspectives in Tay-Sachs Disease.

Neurol Int. 2025 Jun 25;17(7):98. doi: 10.3390/neurolint17070098.

Diagnostic Tips from a Video Series and Literature Review of Patients with Late-Onset Tay-Sachs Disease.

Tremor Other Hyperkinet Mov (N Y). 2022 Dec 27;12:34. doi: 10.5334/tohm.726. eCollection 2022.

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

Klin Wochenschr. 1971 Nov 1;49(21):1189-91. doi: 10.1007/BF01732464.

Humangenetik. 1973;20(1):9-24. doi: 10.1007/BF00280871.

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

Am J Hum Genet. 1973 Jul;25(4):372-81.

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

Am J Hum Genet. 1973 May;25(3):287-93.

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

J Clin Pathol. 1974 Nov;27(11):913-5. doi: 10.1136/jcp.27.11.913.

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

Acta Neuropathol. 1974 Mar 26;27(3):225-32. doi: 10.1007/BF00687632.

Biochemistry and genetics of gangliosidoses.

Hum Genet. 1979;50(2):107-43. doi: 10.1007/BF00390234.

Basic findings and current developments in sphingolipidoses.

Hum Genet. 1979 Mar 12;47(2):113-34. doi: 10.1007/BF00273194.