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Year Number of Results
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31 results

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Page 1
Fucosidosis-Clinical Manifestation, Long-Term Outcomes, and Genetic Profile-Review and Case Series.
Stepien KM, Ciara E, Jezela-Stanek A. Stepien KM, et al. Genes (Basel). 2020 Nov 22;11(11):1383. doi: 10.3390/genes11111383. Genes (Basel). 2020. PMID: 33266441 Free PMC article. Review.
Fucosidosis is caused by mutations in the FUCA1 gene resulting in alpha-L-fucosidase deficiency. ...This review describes the genetic profile and clinical manifestations of fucosidosis in pediatric and adult cases....
Fucosidosis is caused by mutations in the FUCA1 gene resulting in alpha-L-fucosidase deficiency. ...This review describes the genetic …
Spectrum of mutations in fucosidosis.
Willems PJ, Seo HC, Coucke P, Tonlorenzi R, O'Brien JS. Willems PJ, et al. Eur J Hum Genet. 1999 Jan;7(1):60-7. doi: 10.1038/sj.ejhg.5200272. Eur J Hum Genet. 1999. PMID: 10094192 Review.
Fucosidosis is a lysosomal storage disorder characterised by progressive psychomotor deterioration, angiokeratoma and growth retardation. ...We present here a review study of the mutational spectrum of fucosidosis. Exon by exon mutation analysis of FUCA1, the struct …
Fucosidosis is a lysosomal storage disorder characterised by progressive psychomotor deterioration, angiokeratoma and growth retardat …
Fucosidosis revisited: a review of 77 patients.
Willems PJ, Gatti R, Darby JK, Romeo G, Durand P, Dumon JE, O'Brien JS. Willems PJ, et al. Am J Med Genet. 1991 Jan;38(1):111-31. doi: 10.1002/ajmg.1320380125. Am J Med Genet. 1991. PMID: 2012122 Review.
Seventy-seven patients affected with fucosidosis of which 19 had not been reported before have been identified. A major aim of the present study was to define the natural history of fucosidosis. ...Whereas the original fucosidosis patients described by Durand …
Seventy-seven patients affected with fucosidosis of which 19 had not been reported before have been identified. A major aim of the pr …
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. Mao SJ, et al. BMC Pediatr. 2022 Jul 11;22(1):403. doi: 10.1186/s12887-022-03414-y. BMC Pediatr. 2022. PMID: 35820891 Free PMC article. Review.
Ultimately, the patient was diagnosed with fucosidosis. CONCLUSIONS: Fucosidosis is a rare lysosomal storage disease because of FUCA1 variants that cause the deficiency of alpha-L-fucosidase in vivo. ...Early diagnosis plays an important role in fucosidosis.. …
Ultimately, the patient was diagnosed with fucosidosis. CONCLUSIONS: Fucosidosis is a rare lysosomal storage disease because o …
Mutations in fucosidosis gene: a review.
Tiberio G, Filocamo M, Gatti R, Durand P. Tiberio G, et al. Acta Genet Med Gemellol (Roma). 1995;44(3-4):223-32. doi: 10.1017/s0001566000001641. Acta Genet Med Gemellol (Roma). 1995. PMID: 8739734 Review.
Fucosidosis is an autosomal recessive disorder caused by a deficiency of alpha-L-fucosidase. ...
Fucosidosis is an autosomal recessive disorder caused by a deficiency of alpha-L-fucosidase. ...
[Fucosidosis].
Yamaguchi S. Yamaguchi S. Ryoikibetsu Shokogun Shirizu. 1998;(19 Pt 2):460-2. Ryoikibetsu Shokogun Shirizu. 1998. PMID: 9645110 Review. Japanese. No abstract available.
[Fucosidosis].
Akagi M, Inui K. Akagi M, et al. Ryoikibetsu Shokogun Shirizu. 2001;(33):731-2. Ryoikibetsu Shokogun Shirizu. 2001. PMID: 11462659 Review. Japanese. No abstract available.
Disorders of glycoprotein degradation.
Cantz M, Ulrich-Bott B. Cantz M, et al. J Inherit Metab Dis. 1990;13(4):523-37. doi: 10.1007/BF01799510. J Inherit Metab Dis. 1990. PMID: 2122119 Review.
This paper presents an overview of the biochemistry and the clinical spectrum of this group of diseases including sialidosis, galactosialidosis, alpha- and beta-mannosidosis, fucosidosis, aspartylglucosaminuria, and alpha-N-acetylgalactosaminidase deficiency (Schindler dis …
This paper presents an overview of the biochemistry and the clinical spectrum of this group of diseases including sialidosis, galactosialido …
The Role of Hematopoietic Cell Transplant in the Glycoprotein Diseases.
Naumchik BM, Gupta A, Flanagan-Steet H, Steet RA, Cathey SS, Orchard PJ, Lund TC. Naumchik BM, et al. Cells. 2020 Jun 5;9(6):1411. doi: 10.3390/cells9061411. Cells. 2020. PMID: 32517081 Free PMC article. Review.
The glycoprotein disorders are a group of lysosomal storage diseases (alpha-mannosidosis, aspartylglucosaminuria, beta-mannosidosis, fucosidosis, galactosialidosis, sialidosis, mucolipidosis II, mucolipidosis III, and Schindler Disease) characterized by specific lysosomal …
The glycoprotein disorders are a group of lysosomal storage diseases (alpha-mannosidosis, aspartylglucosaminuria, beta-mannosidosis, fuco …
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. Wali G, et al. Neuropediatrics. 2019 Aug;50(4):248-252. doi: 10.1055/s-0039-1684052. Epub 2019 May 7. Neuropediatrics. 2019. PMID: 31064022 Review.
BACKGROUND: Fucosidosis is a rare lysosomal disorder caused by mutations in the FUCA1 gene. We describe here a novel homozygous mutation in FUCA1 in an Indian fucosidosis case. ...Low levels of alpha-fucosidase in patient leukocytes and a positive qualitative urine …
BACKGROUND: Fucosidosis is a rare lysosomal disorder caused by mutations in the FUCA1 gene. We describe here a novel homozygous mutat …
31 results