Literature DB >> 2949607

Fetal hexosaminidase A in mother's serum: pitfalls for carrier detection and prospects for prenatal diagnoses of GM2 gangliosidoses.

R Navon, I Lejbkowicz, A Adam.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1987        PMID： 2949607      PMCID： PMC1684001     

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


× No keyword cloud information.
  3 in total

1.  Diagnosis and carrier detection of Tay-Sachs disease: direct determination of hexosaminidase A using 4-methylumbelliferyl derivatives of beta-N-acetylglucosamine-6-sulfate and beta-N-acetylgalactosamine-6-sulfate.

Authors:  Y Ben-Yoseph; J E Reid; B Shapiro; H L Nadler
Journal:  Am J Hum Genet       Date:  1985-07       Impact factor: 11.025

2.  Hunter's syndrome: activity of iduronate sulfate sulfatase in the serum of pregnant heterozygotes.

Authors:  J Zlotogora; G Bach
Journal:  N Engl J Med       Date:  1984-08-02       Impact factor: 91.245

3.  Increased serum hexosaminidase in a woman pregnant with fetus affected by mucolipidosis II (I-cell disease)

Authors:  G Hug; K E Bove; S Soukup; M Ryan; R Bendon; D Babcock; N S Warren; P S Dignan
Journal:  N Engl J Med       Date:  1984-10-11       Impact factor: 91.245
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.