DiCioccio RA - Search Results

1

A missense mutation (S63L) in alpha-L-fucosidase is responsible for fucosidosis in an Italian patient.

Seo HC, Yang M, Tonlorenzi R, Willems PJ, Kim AH, Filocamo M, Gatti R, DiCioccio RA, O'Brien JS. Seo HC, et al. Among authors: dicioccio ra. Hum Mol Genet. 1994 Nov;3(11):2065-6. Hum Mol Genet. 1994. PMID: 7874128 No abstract available.

2

Molecular biology of the alpha-L-fucosidase gene and fucosidosis.

O'Brien JS, Willems PJ, Fukushima H, de Wet JR, Darby JK, Di Cioccio R, Fowler ML, Shows TB. O'Brien JS, et al. Enzyme. 1987;38(1-4):45-53. doi: 10.1159/000469189. Enzyme. 1987. PMID: 2894306

3

Identification of a mutation in the structural alpha-L-fucosidase gene in fucosidosis.

Willems PJ, Darby JK, DiCioccio RA, Nakashima P, Eng C, Kretz KA, Cavalli-Sforza LL, Shooter EM, O'Brien JS. Willems PJ, et al. Among authors: dicioccio ra. Am J Hum Genet. 1988 Nov;43(5):756-63. Am J Hum Genet. 1988. PMID: 2903668 Free PMC article.

4

A Gln-281 to Arg substitution in alpha-L-fucosidase is responsible for a common polymorphism detected by isoelectric focusing.

Yang M, DiCioccio RA. Yang M, et al. Among authors: dicioccio ra. Hum Genet. 1994 May;93(5):597-9. doi: 10.1007/BF00202831. Hum Genet. 1994. PMID: 8168842

5

A 66-basepair insertion in exon 6 of the alpha-L-fucosidase gene of a fucosidosis patient.

Seo HC, Yang M, Kim AH, O'Brien JS, DiCioccio RA, Gordon BA. Seo HC, et al. Among authors: dicioccio ra. Hum Mutat. 1996;7(2):183. doi: 10.1002/humu.1380070203. Hum Mutat. 1996. PMID: 8829645 No abstract available.

6

A mutation generating a stop codon in the alpha-L-fucosidase gene of a fucosidosis patient.

Yang M, Allen H, DiCioccio RA. Yang M, et al. Among authors: dicioccio ra. Biochem Biophys Res Commun. 1992 Dec 15;189(2):1063-8. doi: 10.1016/0006-291x(92)92312-l. Biochem Biophys Res Commun. 1992. PMID: 1281988

7

Abnormal expression of alpha-L-fucosidase in lymphoid cell lines of fucosidosis patients.

DiCioccio RA, Darby JK, Willems PJ. DiCioccio RA, et al. Biochem Genet. 1989 Jun;27(5-6):279-90. doi: 10.1007/BF00554163. Biochem Genet. 1989. PMID: 2803224

8

Fucosidosis with dystonia.

Gordon BA, Gordon KE, Seo HC, Yang M, DiCioccio RA, O'Brien JS. Gordon BA, et al. Among authors: dicioccio ra. Neuropediatrics. 1995 Dec;26(6):325-7. doi: 10.1055/s-2007-979784. Neuropediatrics. 1995. PMID: 8719750

9

Pedigree analysis of alpha-L-fucosidase gene mutations in a fucosidosis family.

Yang M, Allen H, DiCioccio RA. Yang M, et al. Among authors: dicioccio ra. Biochim Biophys Acta. 1993 Oct 20;1182(3):245-9. doi: 10.1016/0925-4439(93)90065-9. Biochim Biophys Acta. 1993. PMID: 8399358

10

Specific activity of alpha-L-fucosidase in sera with phenotypes of either low, intermediate, or high total enzyme activity and in a fucosidosis serum.

DiCioccio RA, Barlow JJ, Matta KL. DiCioccio RA, et al. Biochem Genet. 1986 Feb;24(1-2):115-30. doi: 10.1007/BF00502983. Biochem Genet. 1986. PMID: 3964228

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