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Links from PubMed

Items: 20

1.

The X-ray crystal structure of human beta-hexosaminidase B provides new insights into Sandhoff disease.

Maier T, Strater N, Schuette CG, Klingenstein R, Sandhoff K, Saenger W.

J Mol Biol. 2003 May 2;328(3):669-81.

PMID:
12706724
2.

[Lysosome disease--Sandhoff disease].

Eguchi I, Wakamatsu N, Nakano R, Tsuji S.

Nihon Rinsho. 1993 Sep;51(9):2276-80. Review. Japanese.

PMID:
8411702
3.

Isoenzymes of N-acetyl-beta-hexosaminidase.

Zwierz K, Zalewska A, Zoch-Zwierz A.

Acta Biochim Pol. 1999;46(3):739-51. Review.

4.

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
5.

Biochemical consequences of mutations causing the GM2 gangliosidoses.

Mahuran DJ.

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

6.

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
7.

[Beta-N-acetyl-hexosaminidase--the enzyme of Tay-Sachs and Sandhoff diseases].

Zwierz K, Juszkiewicz J, Arciuch L, Gindzieński A.

Postepy Biochem. 1992;38(3):127-32. Review. Polish. No abstract available.

PMID:
1461844
8.

Natural history and inherited disorders of a lysosomal enzyme, beta-hexosaminidase.

Neufeld EF.

J Biol Chem. 1989 Jul 5;264(19):10927-30. Review. No abstract available.

9.
10.

[Sandhoff disease (beta-hexosaminidase alpha-chain deficiency)].

Taniike M, Okada S.

Ryoikibetsu Shokogun Shirizu. 1998;(19 Pt 2):397-9. Review. Japanese. No abstract available.

PMID:
9645091
11.

[Adult form of GM2-gangliosidosis: a man and 2 sisters with hexosaminidase-A and -B deficiency (Sandhoff disease) and literature review].

Schnorf H, Bosshard NU, Gitzelmann R, Spycher MA, Isler P, Waespe W.

Schweiz Med Wochenschr. 1996 May 4;126(18):757-64. Review. German.

PMID:
8693300
12.

Sandhoff disease--a case report of 3 siblings and a review of potential therapies.

Tay SK, Low PS, Ong HT, Loke KY.

Ann Acad Med Singapore. 2000 Jul;29(4):514-7. Review.

PMID:
11056783
13.

Genetic heterogeneity of the hexosaminidase deficiency diseases.

Johnson WG.

Res Publ Assoc Res Nerv Ment Dis. 1983;60:215-37. Review. No abstract available.

PMID:
6337393
14.

[Spinal muscular atrophy: a hexosaminidase A deficiency phenotype].

Kawanami T, Kato T.

Ryoikibetsu Shokogun Shirizu. 1999;(27 Pt 2):379-81. Review. Japanese. No abstract available.

PMID:
10434678
15.

Juvenile Sandhoff disease--nine new cases and a review of the literature.

Hendriksz CJ, Corry PC, Wraith JE, Besley GT, Cooper A, Ferrie CD.

J Inherit Metab Dis. 2004;27(2):241-9. Review.

PMID:
15159655
16.

[Tay-Sachs disease (beta-hexosaminidase alpha-chain deficiency)].

Okada S, Taniike M.

Ryoikibetsu Shokogun Shirizu. 1998;(19 Pt 2):394-6. Review. Japanese. No abstract available.

PMID:
9645090
17.

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

Navon R.

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

PMID:
11596983
18.
19.

[GM2 gangliosidosis].

Tsuji S.

Ryoikibetsu Shokogun Shirizu. 1999;(27 Pt 2):177-9. Review. Japanese. No abstract available.

PMID:
10434623
20.

Biosynthesis of normal and mutant beta-hexosaminidases.

Neufeld EF, d'Azzo A.

Adv Genet. 2001;44:165-71. Review. No abstract available.

PMID:
11596981

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