KoreaMed

Skip Navigation: Skip to contents

Filter

ARTICLE TYPE

Research Support, Non-U.S. Gov't

PUBLICATION DATE

1 year
5 year
10 year

Download

1 results

Display

Display
Result Count
Sort by

1-1

1 Comparison of enzyme and DNA analysis in a Tay-Sachs disease carrier screening program

Yoo HW, Astrin KH, Desnick RJ

KMID: 1421957
J Korean Med Sci.
1993 Feb;8(1):84-91.
doi: 10.3346/jkms.1993.8.1.84

Tay-Sachs disease (GM2 gangliosidosis, type 1; TSD) is an autosomal recessive GM2 gangliosidosis resulting from the deficient activity of the lysosomal hydrolase beta-hexosaminidase A (Hex A). With a carrier frequency...

Cite

CITED: export Copy Format; Close

SHARE: Close

ARTICLE TYPE

PUBLICATION DATE

Email citations