Literature DB >> 713433

Prenatal diagnosis of Tay-Sachs disease in cell-free amniotic fluid.

H Christomanou, C Cáp, K Sandhoff.   

Abstract

The diagnosis of 6 known Tay-Sachs cases was confirmed by isoelectric focusing of the cell-free amniotic fluid. The presence of an additional--hitherto unknown--heatstable, acid hexosaminidase X in normal and pathological amniotic fluids must be taken into account especially when the heat denaturation method of detecting Tay-Sachs disease is applied. Hexosaminidase X shows some properties similar to those of hexosaminidase B.

Entities:  

Mesh：

Substances：

Year:  1978        PMID： 713433     DOI： 10.1007/bf01477136

Source DB:  PubMed          Journal:  Klin Wochenschr        ISSN： 0023-2173


  9 in total

1.  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

2.  The prenatal diagnosis of Tay-Sachs disease.

Authors:  A B Lane; M I Skikne; T Jenkins
Journal:  S Afr Med J       Date:  1976-09-18

3.  [Preliminary results in the prenatal diagnosis of Tay-Sachs disease by isoelectric focusing of hexosaminidase A (author's transl)].

Authors:  K Harzer
Journal:  Klin Wochenschr       Date:  1974-02-01

4.  Separation and characterisation of N-acetyl- -glucosaminidases A and P from maternal serum.

Authors:  J L Stirling
Journal:  Biochim Biophys Acta       Date:  1972-06-22

5.  Isoelectric focusing pattern of acid hydrolases in cultured fibroblasts, leucocytes and cell-free amniotic fluid.

Authors:  H Christomanou; C Cáp; K Sandhoff
Journal:  Neuropadiatrie       Date:  1977-08

Review 6.  The biochemistry of sphingolipid storage diseases.

Authors:  K Sandhoff
Journal:  Angew Chem Int Ed Engl       Date:  1977-05       Impact factor: 15.336

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-hexosaminidase isoenzymes of amniotic fluid and maternal serum. Their relevance to prenatal diagnosis of the GM2 gangliosidoses.

Authors:  M Potier; G Boire; L Dallaire; S B Melancon
Journal:  Clin Chim Acta       Date:  1977-05-02       Impact factor: 3.786

9.  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
  9 in total
  1 in total

Review 1.  Biochemistry and genetics of gangliosidoses.

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

北京卡尤迪生物科技股份有限公司 © 2022-2023.