179 related articles for article (PubMed ID: 29518279)
1. Transcriptomic analysis of FUCA1 knock-down in keratinocytes reveals new insights into the pathogenesis of fucosidosis skin lesions.
Valero-Rubio D; Jiménez KM; Fonseca DJ; Payán-Gómez C; Laissue P
Exp Dermatol; 2018 Jun; 27(6):663-667. PubMed ID: 29518279
[TBL] [Abstract][Full Text] [Related]
2. A Novel Homozygous Mutation in the FUCA1 Gene Highlighting Fucosidosis as a Cause of Dystonia: Case Report and Literature Review.
Wali G; Wali GM; Sue CM; Kumar KR
Neuropediatrics; 2019 Aug; 50(4):248-252. PubMed ID: 31064022
[TBL] [Abstract][Full Text] [Related]
3. Fucosidosis-Clinical Manifestation, Long-Term Outcomes, and Genetic Profile-Review and Case Series.
Stepien KM; Ciara E; Jezela-Stanek A
Genes (Basel); 2020 Nov; 11(11):. PubMed ID: 33266441
[TBL] [Abstract][Full Text] [Related]
4. The Identification of a Novel Fucosidosis-Associated
Domin A; Zabek T; Kwiatkowska A; Szmatola T; Deregowska A; Lewinska A; Mazur A; Wnuk M
Genes (Basel); 2021 Jan; 12(1):. PubMed ID: 33435586
[TBL] [Abstract][Full Text] [Related]
5. Fucosidosis in Tunisian patients: mutational analysis and homology-based modeling of FUCA1 enzyme.
Chkioua L; Amri Y; Chaima S; Fenni F; Boudabous H; Ben Turkia H; Messaoud T; Tebib N; Laradi S
BMC Med Genomics; 2021 Aug; 14(1):208. PubMed ID: 34425818
[TBL] [Abstract][Full Text] [Related]
6. MRI and MRS findings in fucosidosis; a rare lysosomal storage disease.
Ediz SS; Aralasmak A; Yilmaz TF; Toprak H; Yesil G; Alkan A
Brain Dev; 2016 Apr; 38(4):435-8. PubMed ID: 26515723
[TBL] [Abstract][Full Text] [Related]
7. An unusual presentation of fucosidosis in a Chinese boy: a case report and literature review (childhood fucosidosis).
Mao SJ; Zhao J; Shen Z; Zou CC
BMC Pediatr; 2022 Jul; 22(1):403. PubMed ID: 35820891
[TBL] [Abstract][Full Text] [Related]
8. Novel mutations in the FUCA1 gene that cause fucosidosis.
Panmontha W; Amarinthnukrowh P; Damrongphol P; Desudchit T; Suphapeetiporn K; Shotelersuk V
Genet Mol Res; 2016 Sep; 15(3):. PubMed ID: 27706744
[TBL] [Abstract][Full Text] [Related]
9. Identification of a novel homozygous
Zhang X; Zhao S; Liu H; Wang X; Wang X; Du N; Liu H; Duan H
J Int Med Res; 2021 Apr; 49(4):3000605211005975. PubMed ID: 33906529
[TBL] [Abstract][Full Text] [Related]
10. A novel homozygous frameshift mutation in the
Saleh-Gohari N; Saeidi K; Zeighaminejad R
J Clin Pathol; 2018 Sep; 71(9):821-824. PubMed ID: 29588375
[TBL] [Abstract][Full Text] [Related]
11. Fucosidosis with angiokeratoma. Immunohistochemical & electronmicroscopic study of a new case and literature review.
Kanitakis J; Allombert C; Doebelin B; Deroo-Berger MC; Grande S; Blanc S; Claudy A
J Cutan Pathol; 2005 Aug; 32(7):506-11. PubMed ID: 16008696
[TBL] [Abstract][Full Text] [Related]
12. 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):553-556. PubMed ID: 17427030
[TBL] [Abstract][Full Text] [Related]
13. 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. PubMed ID: 18504684
[TBL] [Abstract][Full Text] [Related]
14. 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. PubMed ID: 8097260
[TBL] [Abstract][Full Text] [Related]
15. Cutaneous manifestations of fucosidosis.
Fleming C; Rennie A; Fallowfield M; McHenry PM
Br J Dermatol; 1997 Apr; 136(4):594-7. PubMed ID: 9155966
[TBL] [Abstract][Full Text] [Related]
16. A novel FUCA1 mutation causing fucosidosis in a Chinese boy.
Ip P; Goh W; Chan KW; Cheung PT
J Inherit Metab Dis; 2002 Sep; 25(5):415-6. PubMed ID: 12408193
[TBL] [Abstract][Full Text] [Related]
17. 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. PubMed ID: 10094192
[TBL] [Abstract][Full Text] [Related]
18. 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. PubMed ID: 9039984
[TBL] [Abstract][Full Text] [Related]
19. Glycan degradation promotes macroautophagy.
Baudot AD; Wang VM; Leach JD; O'Prey J; Long JS; Paulus-Hock V; Lilla S; Thomson DM; Greenhorn J; Ghaffar F; Nixon C; Helfrich MH; Strathdee D; Pratt J; Marchesi F; Zanivan S; Ryan KM
Proc Natl Acad Sci U S A; 2022 Jun; 119(26):e2111506119. PubMed ID: 35737835
[TBL] [Abstract][Full Text] [Related]
20. Pedigree analysis of alpha-L-fucosidase gene mutations in a fucosidosis family.
Yang M; Allen H; DiCioccio RA
Biochim Biophys Acta; 1993 Oct; 1182(3):245-9. PubMed ID: 8399358
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
