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Items: 1 to 20 of 30

1.

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

Cao Z, Natowicz MR, Kaback MM, Lim-Steele JS, Prence EM, Brown D, Chabot T, Triggs-Raine BL.

Am J Hum Genet. 1993 Dec;53(6):1198-205.

2.

Tay-Sachs disease-causing mutations and neutral polymorphisms in the Hex A gene.

Myerowitz R.

Hum Mutat. 1997;9(3):195-208. Review.

PMID:
9090523
3.

Heterozygote screening for Tay-Sachs disease: past successes and future challenges.

Natowicz MR, Prence EM.

Curr Opin Pediatr. 1996 Dec;8(6):625-9. Review.

PMID:
9018448
4.

Biochemical and molecular aspects of late-onset GM2-gangliosidosis: B1 variant as a prototype.

Suzuki K, Vanier MT.

Dev Neurosci. 1991;13(4-5):288-94. Review.

PMID:
1840099
6.

Biochemistry and genetics of Tay-Sachs disease.

Gravel RA, Triggs-Raine BL, Mahuran DJ.

Can J Neurol Sci. 1991 Aug;18(3 Suppl):419-23. Review.

PMID:
1834320
7.

Biochemical consequences of mutations causing the GM2 gangliosidoses.

Mahuran DJ.

Biochim Biophys Acta. 1999 Oct 8;1455(2-3):105-38. Review.

8.

[Tay-Sachs disease].

Tanaka A.

Nihon Rinsho. 1993 Sep;51(9):2281-5. Review. Japanese.

PMID:
8411703
9.

[Recent advances in molecular genetics of GM2 gangliosidosis].

Wakamatsu N.

Nihon Rinsho. 1995 Dec;53(12):2988-93. Review. Japanese.

PMID:
8577047
10.

Naturally occurring mutations in GM2 gangliosidosis: a compendium.

Triggs-Raine B, Mahuran DJ, Gravel RA.

Adv Genet. 2001;44:199-224. Review. No abstract available.

PMID:
11596984
11.

Tay-Sachs disease screening and counseling families at risk for metabolic disease.

Sutton VR.

Obstet Gynecol Clin North Am. 2002 Jun;29(2):287-96. Review.

PMID:
12108829
12.

Late-onset GM2 gangliosidosis and other hexosaminidase mutations among Jews.

Navon R.

Adv Genet. 2001;44:185-97. Review. No abstract available.

PMID:
11596983
13.

The molecular basis of Tay-Sachs disease: mutation identification and diagnosis.

Mahuran DJ, Triggs-Raine BL, Feigenbaum AJ, Gravel RA.

Clin Biochem. 1990 Oct;23(5):409-15. Review.

PMID:
2147596
14.

Biochemical characterization of the GM2 gangliosidosis B1 variant.

Tutor JC.

Braz J Med Biol Res. 2004 Jun;37(6):777-83. Epub 2004 May 27. Review.

15.

The biochemistry of HEXA and HEXB gene mutations causing GM2 gangliosidosis.

Mahuran DJ.

Biochim Biophys Acta. 1991 Feb 22;1096(2):87-94. Review. No abstract available.

PMID:
1825792
16.

[Biochemical, molecular and social aspects of carrier screening for Tay-Sachs disease].

Peleg L, Gazit E, Goldman B, Akstein E.

Harefuah. 1995 Dec 1;129(11):475-80. Review. Hebrew. No abstract available.

PMID:
8846957
17.
18.

Tay-Sachs disease as a model for screening inborn errors.

Blitzer MG, McDowell GA.

Clin Lab Med. 1992 Sep;12(3):463-80. Review.

PMID:
1355703
19.

The GM2 gangliosidoses databases: allelic variation at the HEXA, HEXB, and GM2A gene loci.

Cordeiro P, Hechtman P, Kaplan F.

Genet Med. 2000 Nov-Dec;2(6):319-27. Review.

PMID:
11339652
20.

Tay-Sachs disease screening and diagnosis: evolving technologies.

Hechtman P, Kaplan F.

DNA Cell Biol. 1993 Oct;12(8):651-65. Review.

PMID:
8397824
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