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Results: 1 to 20 of 223

1.

Severe hypomyelination as the leading neuroradiological sign in a patient with fucosidosis.

Prietsch V, Arnold S, Kraegeloh-Mann I, Kuehr J, Santer R.

Neuropediatrics. 2008 Feb;39(1):51-4. doi: 10.1055/s-2008-1077048.

PMID:
18504684
[PubMed - indexed for MEDLINE]
2.

A 5' splice site mutation in fucosidosis.

Williamson M, Cragg H, Grant J, Kretz K, O'Brien J, Willems PJ, Young E, Winchester B.

J Med Genet. 1993 Mar;30(3):218-23.

PMID:
8097260
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Fucosidosis: genetic and biochemical analysis of eight cases.

Cragg H, Williamson M, Young E, O'Brien J, Alhadeff J, Fang-Kircher S, Paschke E, Winchester B.

J Med Genet. 1997 Feb;34(2):105-10.

PMID:
9039984
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Mutation analysis of a Japanese patient with fucosidosis.

Akagi M, Inui K, Nishigaki T, Muramatsu T, Kokubu C, Fu L, Fukushima H, Yanagihara I, Tsukamoto H, Kurahashi H, Okada S.

J Hum Genet. 1999;44(5):323-6.

PMID:
10496076
[PubMed - indexed for MEDLINE]
5.

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.

Am J Hum Genet. 1988 Nov;43(5):756-63.

PMID:
2903668
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

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.

Enzyme. 1987;38(1-4):45-53.

PMID:
2894306
[PubMed - indexed for MEDLINE]
7.

A case of chronic infantile type of fucosidosis: clinical and magnetic resonance image findings.

Inui K, Akagi M, Nishigaki T, Muramatsu T, Tsukamoto H, Okada S.

Brain Dev. 2000 Jan;22(1):47-9.

PMID:
10761834
[PubMed - indexed for MEDLINE]
8.

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

Yang M, Allen H, DiCioccio RA.

Biochim Biophys Acta. 1993 Oct 20;1182(3):245-9.

PMID:
8399358
[PubMed - indexed for MEDLINE]
9.

Spectrum of mutations in fucosidosis.

Willems PJ, Seo HC, Coucke P, Tonlorenzi R, O'Brien JS.

Eur J Hum Genet. 1999 Jan;7(1):60-7. Review.

PMID:
10094192
[PubMed - indexed for MEDLINE]
Free Article
10.

Fucosidosis revisited: a review of 77 patients.

Willems PJ, Gatti R, Darby JK, Romeo G, Durand P, Dumon JE, O'Brien JS.

Am J Med Genet. 1991 Jan;38(1):111-31. Review.

PMID:
2012122
[PubMed - indexed for MEDLINE]
11.

Isolation of the canine alpha-L-fucosidase cDNA and definition of the fucosidosis mutation in English Springer Spaniels.

Occhiodoro T, Anson DS.

Mamm Genome. 1996 Apr;7(4):271-4.

PMID:
8661697
[PubMed - indexed for MEDLINE]
12.

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.

Hum Mol Genet. 1994 Nov;3(11):2065-6. No abstract available.

PMID:
7874128
[PubMed - indexed for MEDLINE]
13.

Mutation identification and characterization of a Taiwanese patient with fucosidosis.

Lin SP, Chang JH, de la Cadena MP, Chang TF, Lee-Chen GJ.

J Hum Genet. 2007;52(6):553-6. Epub 2007 Apr 11.

PMID:
17427030
[PubMed - indexed for MEDLINE]
14.

Four year follow-up of a case of fucosidosis treated with unrelated donor bone marrow transplantation.

Miano M, Lanino E, Gatti R, Morreale G, Fondelli P, Celle ME, Stroppiano M, Crescenzi F, Dini G.

Bone Marrow Transplant. 2001 Apr;27(7):747-51.

PMID:
11360116
[PubMed - indexed for MEDLINE]
Free Article
15.

Restriction analysis of the structural alpha-L-fucosidase gene and its linkage to fucosidosis.

Darby JK, Willems PJ, Nakashima P, Johnsen J, Ferrell RE, Wijsman EM, Gerhard DS, Dracopoli NC, Housman D, Henke J, et al.

Am J Hum Genet. 1988 Nov;43(5):749-55.

PMID:
2903667
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Six additional mutations in fucosidosis: three nonsense mutations and three frameshift mutations.

Seo HC, Willems PJ, O'Brien JS.

Hum Mol Genet. 1993 Aug;2(8):1205-8.

PMID:
8401503
[PubMed - indexed for MEDLINE]
17.

Fucosidosis: four new mutations and a new polymorphism.

Seo HC, Willems PJ, Kretz KA, Martin BM, O'Brien JS.

Hum Mol Genet. 1993 Apr;2(4):423-9.

PMID:
8504303
[PubMed - indexed for MEDLINE]
18.

Evolution of the neuroimaging changes in fucosidosis type II.

Terespolsky D, Clarke JT, Blaser SI.

J Inherit Metab Dis. 1996;19(6):775-81.

PMID:
8982951
[PubMed - indexed for MEDLINE]
19.

Inherited lysosomal storage disease in an English springer spaniel.

Keller CB, Lamarre J.

J Am Vet Med Assoc. 1992 Jan 15;200(2):194-5.

PMID:
1559875
[PubMed - indexed for MEDLINE]
20.

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

Yang M, Allen H, DiCioccio RA.

Biochem Biophys Res Commun. 1992 Dec 15;189(2):1063-8.

PMID:
1281988
[PubMed - indexed for MEDLINE]

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