Absence of -N-acetyl-D-hexosaminidase A Activity in a Healthy Woman

Overview

Journal Am J Hum Genet

Publisher Cell Press

Specialty Genetics

Date 1973 Jul 1

PMID 4716656

Citations 25

Authors

J Vidgoff

N R Buist

J S OBrien

Affiliations

Soon will be listed here.

Citing Articles

Tay-Sachs disease with atypical chronic course and limited brain storage: alpha-locus hexosaminidase genetic compound.

Philippart M, Carrel R, LANDING B Neurochem Res. 1995; 20(11):1323-8.

PMID: 8786818 DOI: 10.1007/BF00992507.

"Pseudodeficiencies" of lysosomal hydrolases.

Thomas G Am J Hum Genet. 1994; 54(6):934-40.

PMID: 7911004 PMC: 1918197.

A second mutation associated with apparent beta-hexosaminidase A pseudodeficiency: identification and frequency estimation.

Cao Z, Natowicz M, Kaback M, Prence E, Brown D, Chabot T Am J Hum Genet. 1993; 53(6):1198-205.

PMID: 7902672 PMC: 1682498.

Alpha-locus hexosaminidase genetic compound with juvenile gangliosidosis phenotype: clinical, genetic, and biochemical studies.

Johnson W, Cohen C, Miranda A, Waran S, CHUTORIAN A Am J Hum Genet. 1980; 32(4):508-18.

PMID: 6772023 PMC: 1686138.

Ganglioside GM2 N-acetyl-beta-D-galactosaminidase activity in cultured fibroblasts of late-infantile and adult GM2 gangliosidosis patients and of healthy probands with low hexosaminidase level.

Conzelmann E, Kytzia H, Navon R, Sandhoff K Am J Hum Genet. 1983; 35(5):900-13.

PMID: 6614006 PMC: 1685812.

References

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