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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1969 1
1974 1
1975 1
1986 1
1987 1
1990 1
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1992 1
1995 4
1997 1
1998 1
1999 3
2001 1
2004 1
2007 2
2009 1
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2024 0

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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 a neurodegenerative disorder which progresses inexorably. ...This review describes the genetic profile and clinical manifestations of fucosidosis in pediatric and adult cases....
Fucosidosis is a neurodegenerative disorder which progresses inexorably. ...This review describes the genetic profile and clinical ma
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. ...Whereas the original fucosidosis patients described by Durand et al. (J. Pediatr 75:665-674, 1969) were decerebrate and died before age 5 years, most …
Seventy-seven patients affected with fucosidosis of which 19 had not been reported before have been identified. ...Whereas the origin …
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
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.
Fucosidosis is a rare disease which is approximately 120 cases have been reported worldwide (Wang, L. et al., J Int Med Res 48, 1-6, 2020). ...In addition, the enzymatic activity of alpha-L-fucosidase was low. Ultimately, the patient was diagnosed with fucosidosis.
Fucosidosis is a rare disease which is approximately 120 cases have been reported worldwide (Wang, L. et al., J Int Med Res 48, 1-6,
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 in a Chinese boy: a case report and literature review.
Wang L, Yang M, Hong S, Tang T, Zhuang J, Huang H. Wang L, et al. J Int Med Res. 2020 Apr;48(4):300060520911269. doi: 10.1177/0300060520911269. J Int Med Res. 2020. PMID: 32238081 Free PMC article. Review.
Fucosidosis is a rare lysosomal storage disease, resulting from a deficiency in an alpha-l-fucosidase enzyme. ...Increasing awareness of fucosidosis will help in the early diagnosis of this disease and could shed light on the therapeutic role of hematopoietic stem c
Fucosidosis is a rare lysosomal storage disease, resulting from a deficiency in an alpha-l-fucosidase enzyme. ...Increasing awareness
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
Glycoprotein lysosomal storage disorders: alpha- and beta-mannosidosis, fucosidosis and alpha-N-acetylgalactosaminidase deficiency.
Michalski JC, Klein A. Michalski JC, et al. Biochim Biophys Acta. 1999 Oct 8;1455(2-3):69-84. doi: 10.1016/s0925-4439(99)00077-0. Biochim Biophys Acta. 1999. PMID: 10571005 Free article. Review.
This review provides details on clinical features, genotype-phenotype correlations, enzymology and biochemical storage of four human glycoprotein lysosomal storage disorders, respectively alpha- and beta-mannosidosis, fucosidosis and alpha-N-acetylgalactosaminidase deficie …
This review provides details on clinical features, genotype-phenotype correlations, enzymology and biochemical storage of four human glycopr …
Advances and pitfalls of cell therapy in metabolic leukodystrophies.
Miranda CO, Brites P, Mendes Sousa M, Teixeira CA. Miranda CO, et al. Cell Transplant. 2013;22(2):189-204. doi: 10.3727/096368912X656117. Epub 2012 Sep 21. Cell Transplant. 2013. PMID: 23006656 Free article. Review.
In this review, we present and discuss the available cell transplantation therapies in metabolic leukodystrophies including fucosidosis, X-linked adrenoleukodystrophy, metachromatic leukodystrophy, Canavan disease, and Krabbe's disease. ...
In this review, we present and discuss the available cell transplantation therapies in metabolic leukodystrophies including fucosidosis
31 results