Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Results by year

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

Year Number of Results
1975 1
1976 4
1977 1
1978 2
1980 1
1981 1
1982 1
1988 3
1990 1
1991 1
1993 1
1995 1
1996 1
1999 2
2004 1
2005 1
2007 1
2008 1
2010 1
2011 1
2013 1
2014 1
2015 1
2016 1
2017 1
2018 1
2020 1
2021 1
2023 1
2024 0

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

36 results

Results by year

Filters applied: . Clear all
Quoted phrase not found in phrase index: "Juvenile fucosidosis"
Page 1
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.
We present here a review study of the mutational spectrum of fucosidosis. Exon by exon mutation analysis of FUCA1, the structural gene of alpha-l-fucosidase, has identified the mutation(s) in nearly all fucosidosis patients investigated. ...All these mutations lead …
We present here a review study of the mutational spectrum of fucosidosis. Exon by exon mutation analysis of FUCA1, the structural gen …
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. ...At the biochemical level no heterogeneity in residual fucosidase enz …
Seventy-seven patients affected with fucosidosis of which 19 had not been reported before have been identified. A major aim of the pr …
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. ...Here, we report a Chinese boy presenting with psychomotor regression, dermatological abnormality, dysostosis multiplex, and classic changes observed with …
Fucosidosis is a rare lysosomal storage disease, resulting from a deficiency in an alpha-l-fucosidase enzyme. ...Here, we report a Ch …
Analysis of urinary oligosaccharide excretion patterns by UHPLC/HRAM mass spectrometry for screening of lysosomal storage disorders.
Hagemeijer MC, van den Bosch JC, Bongaerts M, Jacobs EH, van den Hout JMP, Oussoren E, Ruijter GJG. Hagemeijer MC, et al. J Inherit Metab Dis. 2023 Mar;46(2):206-219. doi: 10.1002/jimd.12597. Epub 2023 Feb 28. J Inherit Metab Dis. 2023. PMID: 36752951
Using this platform, we were able to identify alpha-mannosidosis, beta-mannosidosis, alpha-N-acetylgalactosaminidase deficiency, sialidosis, galactosialidosis, fucosidosis, aspartylglucosaminuria, GM1 gangliosidosis, GM2 gangliosidosis (M. Sandhoff) and mucolipidosis II/II …
Using this platform, we were able to identify alpha-mannosidosis, beta-mannosidosis, alpha-N-acetylgalactosaminidase deficiency, sialidosis, …
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. Chkioua L, et al. BMC Med Genomics. 2021 Aug 23;14(1):208. doi: 10.1186/s12920-021-01061-3. BMC Med Genomics. 2021. PMID: 34425818 Free PMC article.
BACKGROUND: Fucosidosis is an autosomal recessive lysosomal storage disease caused by defective alpha-L-fucosidase (FUCA1) activity, leading to the accumulation of fucose-containing glycolipids and glycoproteins in various tissues. ...METHODS: All exons and flanking intron …
BACKGROUND: Fucosidosis is an autosomal recessive lysosomal storage disease caused by defective alpha-L-fucosidase (FUCA1) activity, …
Prenatal diagnosis of fucosidosis.
Poenaru L, Dreyfus JC, Boue J, Nicolesco H, Ravise N, Bamberger J. Poenaru L, et al. Clin Genet. 1976 Nov;10(5):260-4. doi: 10.1111/j.1399-0004.1976.tb00046.x. Clin Genet. 1976. PMID: 991436
A pregnancy from a family at risk for fucosidosis was monitored. Determinations of fucosidase and mannosidase were performed on the serum and white blood cells of several members of the family, om amniotic fluid and amniotic fluid cells of the fetus at several passages, an …
A pregnancy from a family at risk for fucosidosis was monitored. Determinations of fucosidase and mannosidase were performed on the s …
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.
Thus, the deficiency of a single enzyme causes the blockage of the entire pathway and induces a storage of incompletely degraded substances inside the lysosome. Different mutations may be observed in a single disease and in all cases account for the nonexpression of lysoso …
Thus, the deficiency of a single enzyme causes the blockage of the entire pathway and induces a storage of incompletely degraded substances …
Phenotypic spectrum of fucosidosis in Tunisia.
Ben Turkia H, Tebib N, Azzouz H, Abdelmoula MS, Bouguila J, Sanhaji H, Miladi N, Maire I, Caillaud C, Kaabachi N, Ben Dridi MF. Ben Turkia H, et al. J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S313-6. doi: 10.1007/s10545-008-0891-0. Epub 2008 Jul 27. J Inherit Metab Dis. 2008. PMID: 18651239
This study contained the largest ever Tunisian survey of fucosidosis patients, diagnosed during the period 1987-2007. The clinical pictures and outcomes of these patients are compared with literature data. ...The clinical presentation and outcomes of some of these patients …
This study contained the largest ever Tunisian survey of fucosidosis patients, diagnosed during the period 1987-2007. The clinical pi …
Lysosomal Storage Disorders in Indian Children with Neuroregression Attending a Genetic Center.
Sheth J, Mistri M, Bhavsar R, Sheth F, Kamate M, Shah H, Datar C. Sheth J, et al. Indian Pediatr. 2015 Dec;52(12):1029-33. doi: 10.1007/s13312-015-0768-x. Indian Pediatr. 2015. PMID: 26713986 Free article.
Neuronal ceroid lipofucinosis1 and 2 (7.4%), mucolipidosis-II/III (1%), Sialic acid storage disorder (1%), Niemann-Pick disease type-C (1%) and Fucosidosis (0.3%) were observed with less frequency. Most common phenotypes in all subjects were cherry red spot (18.5%), …
Neuronal ceroid lipofucinosis1 and 2 (7.4%), mucolipidosis-II/III (1%), Sialic acid storage disorder (1%), Niemann-Pick disease type-C (1%) …
Magnetic resonance imaging pattern recognition in hypomyelinating disorders.
Steenweg ME, Vanderver A, Blaser S, Bizzi A, de Koning TJ, Mancini GM, van Wieringen WN, Barkhof F, Wolf NI, van der Knaap MS. Steenweg ME, et al. Brain. 2010 Oct;133(10):2971-82. doi: 10.1093/brain/awq257. Brain. 2010. PMID: 20881161 Free PMC article.
Hypomyelination is observed in the context of a growing number of genetic disorders that share clinical characteristics. ...In most cases of Pelizaeus-Merzbacher disease, hypomyelination with congenital cataract, hypomyelination with hypogonadotropic hypogonadism and hypod …
Hypomyelination is observed in the context of a growing number of genetic disorders that share clinical characteristics. ...In most c …
36 results