Literature DB >> 2958791

Use of 4-methylumbelliferyl-6-sulpho-2-acetamido-2-deoxy-beta- D-glucopyranoside for prenatal diagnosis of Tay-Sachs disease using chorionic villi.

E E Grebner1, D A Wenger.   

Abstract

Prenatal diagnosis of Tay-Sachs disease was performed using the sulphated substrate 4-methylumbelliferyl-6-sulpho-2-acetamido-2-deoxy-beta-D-glucopyranoside to detect hexosaminidase A in chorionic villi. The presence or absence of hexosaminidase A in villi was detected by both a quantitative enzyme assay, and by a rapid, novel procedure which permitted visual discrimination between normal and affected villi.

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Year:  1987        PMID： 2958791     DOI： 10.1002/pd.1970070608

Source DB:  PubMed          Journal:  Prenat Diagn        ISSN： 0197-3851            Impact factor:   3.050


  4 in total

Review 1.  Prenatal diagnosis of enzyme defects.

Authors:  B Winchester
Journal:  Arch Dis Child       Date:  1990-01       Impact factor: 3.791

2.  Use of 4-trifluoromethylumbelliferyl-alpha-L-iduronide as a new substrate for detection of alpha-L-iduronidase deficiency in human tissues and for rapid prenatal diagnosis of Hurler disease.

Authors:  I V Tsvetkova; E A Karpova; Y V Voznyi; T V Zolotukhina; V V Biryukov; A N Semyachkina
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982

3.  The biochemical diagnosis of lysosomal storage diseases--a review of five years experience.

Authors:  I J Wallace; C A McCusker; D McCormick
Journal:  Ir J Med Sci       Date:  1990-07       Impact factor: 1.568

4.  Canine GM2-Gangliosidosis Sandhoff Disease Associated with a 3-Base Pair Deletion in the HEXB Gene.

Authors:  P Wang; P S Henthorn; E Galban; G Lin; T Takedai; M Casal
Journal:  J Vet Intern Med       Date:  2017-11-06       Impact factor: 3.333
  4 in total

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