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Results: 7

1.

Neuronopathic Gaucher disease in the mouse: viable combined selective saposin C deficiency and mutant glucocerebrosidase (V394L) mice with glucosylsphingosine and glucosylceramide accumulation and progressive neurological deficits.

Sun Y, Liou B, Ran H, Skelton MR, Williams MT, Vorhees CV, Kitatani K, Hannun YA, Witte DP, Xu YH, Grabowski GA.

Hum Mol Genet. 2010 Mar 15;19(6):1088-97. doi: 10.1093/hmg/ddp580. Epub 2010 Jan 4.

PMID:
20047948
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

The role of saposin C in Gaucher disease.

Tamargo RJ, Velayati A, Goldin E, Sidransky E.

Mol Genet Metab. 2012 Jul;106(3):257-63. doi: 10.1016/j.ymgme.2012.04.024. Epub 2012 May 5. Review.

PMID:
22652185
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Mutations causing Gaucher disease.

Horowitz M, Zimran A.

Hum Mutat. 1994;3(1):1-11. Review.

PMID:
8118460
[PubMed - indexed for MEDLINE]
4.

The role of neurogenetics in Gaucher disease.

Brady RO, Barton NW, Grabowski GA.

Arch Neurol. 1993 Nov;50(11):1212-24. Review.

PMID:
8215980
[PubMed - indexed for MEDLINE]
5.

Gaucher disease: pathological mechanisms and modern management.

Jmoudiak M, Futerman AH.

Br J Haematol. 2005 Apr;129(2):178-88. Review.

PMID:
15813845
[PubMed - indexed for MEDLINE]
6.

Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease.

Stone DL, Tayebi N, Orvisky E, Stubblefield B, Madike V, Sidransky E.

Hum Mutat. 2000;15(2):181-8. Review.

PMID:
10649495
[PubMed - indexed for MEDLINE]
7.

Acid beta-glucosidase: enzymology and molecular biology of Gaucher disease.

Grabowski GA, Gatt S, Horowitz M.

Crit Rev Biochem Mol Biol. 1990;25(6):385-414. Review.

PMID:
2127241
[PubMed - indexed for MEDLINE]

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