I型细胞病携带者的血清己糖胺酶活性。

相似文献

1

Serum hexosaminidase activity in I-cell disease carriers.

Hum Genet. 1977 May 10;36(3):307-16. doi: 10.1007/BF00446281.

2

Human hexosaminidase isozymes: chromatographic separation as an aid to heterozygote identification.

Clin Chim Acta. 1977 Mar 1;75(2):181-91. doi: 10.1016/0009-8981(77)90189-9.

3

Studies in Tay-Sachs and Sandhoff's diseases. Immunologic and structural properties of hexosaminidase A and hexosaminidase B.

Isr J Med Sci. 1973 Sep-Oct;9(9):1335-7.

4

Automated differentiation and measurement of hexosaminidase isoenzymes in biological fluids and its application to pre- and postnatal detection of Tay-Sachs disease.

Clin Chem. 1975 Mar;21(3):334-42.

5

Detection of GM2-gangliosidosis (Tay-Sachs and Sandhoff disease) gene carriers by serum hexosaminidase assay.

Clin Chim Acta. 1976 Nov 15;73(1):163-9. doi: 10.1016/0009-8981(76)90318-1.

6

Human hexosaminidase isozymes. III. Distribution and activity of isozymes in peripheral blood leukocytes and platelets.

J Lab Clin Med. 1978 Jun;91(6):922-8.

7

Tay-Sachs carrier detection by mechanized serum hexosaminidase assay.

Clin Chim Acta. 1974 Jun 19;53(2):247-53. doi: 10.1016/0009-8981(74)90106-5.

8

Carrier screening techniques for Tay-Sachs and other lysosomal storage diseases.

Prog Clin Biol Res. 1977;18:213-9.

9

Segregation within a family of two mutant alleles for hexosaminidase A.

Clin Genet. 1976 May;9(5):540-3. doi: 10.1111/j.1399-0004.1976.tb01609.x.

10

Isoenzymes of serum N-acetyl-beta-D-glucosaminidase in the I cell disease heterozygote.

Hum Genet. 1976 Jan 28;31(1):75-81. doi: 10.1007/BF00270402.

引用本文的文献

1

Am J Hum Genet. 1984 Sep;36(5):1001-14.

本文引用的文献

1

Mutant enzymatic and cytological phenotypes in cultured human fibroblasts.

Science. 1967 Aug 18;157(3790):804-6. doi: 10.1126/science.157.3790.804.

2

N-acetyl-beta-glucosaminidase activity in serum during pregnancy.

J Clin Pathol. 1960 Jul;13(4):353-7. doi: 10.1136/jcp.13.4.353.

3

The determination of arylsulfatases in biological fluids.

Clin Chim Acta. 1970 Sep;29(3):481-91. doi: 10.1016/0009-8981(70)90019-7.

4

The demonstration of multiple heat stable forms of N-acetyl- -glucosaminidase in normal human serum.

Biochim Biophys Acta. 1972 Jun 22;271(1):145-53. doi: 10.1016/0005-2795(72)90142-0.

5

Tay-sachs disease. Detection of heterozygotes and homozygotes by serum hexosaminidase assay.

N Engl J Med. 1970 Jul 2;283(1):15-20. doi: 10.1056/NEJM197007022830104.

6

The use of biochemical data in screening for mutant alleles and in genetic counselling.

Ann Hum Genet. 1974 Jan;37(3):315-26. doi: 10.1111/j.1469-1809.1974.tb01838.x.

7

Analysis of N-acetyl- -D-glucosaminidase in mucolipidosis II (I-cell disease).

Clin Chim Acta. 1973 May 18;45(3):243-8. doi: 10.1016/0009-8981(73)90433-6.

8

Structure and function of the lysosomes of human fibroblasts in culture: dependence on medium pH.

Pediatr Res. 1973 Jan;7(1):13-9. doi: 10.1203/00006450-197301000-00003.

9

Letter: Serum hexosaminidase content in I-cell disease.

N Engl J Med. 1974 Jan 17;290(3):166. doi: 10.1056/nejm197401172900320.

10

Cultured skin fibroblasts in disorders of glycoprotein catabolism and I-cell disease.

Dev Med Child Neurol. 1974 Jun;16(3):376-8. doi: 10.1111/j.1469-8749.1974.tb03353.x.

Serum hexosaminidase activity in I-cell disease carriers.

作者信息

出版信息

相似文献

引用本文的文献

本文引用的文献

文献AI研究员

用中文搜PubMed

文档翻译

Suppr 超能文献

I型细胞病携带者的血清己糖胺酶活性。

Serum hexosaminidase activity in I-cell disease carriers.

作者信息

出版信息

相似文献

引用本文的文献

本文引用的文献