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

Edit custom filters

Results by year

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

Year Number of Results
1983 1
1984 2
1985 1
1986 1
1987 1
1988 2
1990 8
1991 1
1992 5
1993 3
1994 2
1997 1
1998 1
1999 2
2001 1
2002 1
2003 1
2004 1
2005 1
2006 3
2007 2
2008 2
2009 2
2011 1
2017 1
2018 1
2019 4
2020 2
2021 1
2022 1
2023 3
2026 1

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

57 results

Results by year

Filters applied: . Clear all
Page 1
Alpha- and beta-mannosidoses.
Cooper A, Hatton CE, Thornley M, Sardharwalla IB. Cooper A, et al. J Inherit Metab Dis. 1990;13(4):538-48. doi: 10.1007/BF01799511. J Inherit Metab Dis. 1990. PMID: 2122120
Family studies showed granulocyte-rich white cell fractions to be the tissue of choice for carrier detection in beta-mannosidosis. Metabolic labelling studies using [3H] mannose demonstrated accumulation of Man beta 1-4GlcNAc in cultured skin fibroblasts from a pati …
Family studies showed granulocyte-rich white cell fractions to be the tissue of choice for carrier detection in beta-mannosidosis …
Mammalian beta-D-mannosidase and beta-mannosidosis.
Percheron F, Foglietti MJ, Bernard M, Ricard B. Percheron F, et al. Biochimie. 1992 Jan;74(1):5-11. doi: 10.1016/0300-9084(92)90179-i. Biochimie. 1992. PMID: 1576208 Review.
We describe the biochemical aspects of these beta-mannosidosis and the properties of the beta-mannosidases of mammalian origin. Our own results concerning human enzyme (from kidney and urine, seminal plasma and blood cells) suggest that, apart from the case of the i …
We describe the biochemical aspects of these beta-mannosidosis and the properties of the beta-mannosidases of mammalian origin …
Angiokeratoma corporis diffusum in human beta-mannosidosis: Report of a new case and a novel mutation.
Molho-Pessach V, Bargal R, Abramowitz Y, Doviner V, Ingber A, Raas-Rothschild A, Ne'eman Z, Zeigler M, Zlotogorski A. Molho-Pessach V, et al. J Am Acad Dermatol. 2007 Sep;57(3):407-12. doi: 10.1016/j.jaad.2007.01.037. Epub 2007 Apr 8. J Am Acad Dermatol. 2007. PMID: 17420068 Review.
BACKGROUND: Human beta-mannosidosis, a rare disorder of oligosaccharide catabolism, results from a deficiency of beta-mannosidase activity. ...The importance of angiokeratoma corporis diffusum as the clue to the diagnosis of beta-mannosidosis and other …
BACKGROUND: Human beta-mannosidosis, a rare disorder of oligosaccharide catabolism, results from a deficiency of beta-mannosid …
Beta-Mannosidosis Is a Cause of Hypomyelination.
Renaud DL. Renaud DL. Pediatr Neurol. 2023 Mar;140:76-77. doi: 10.1016/j.pediatrneurol.2022.12.012. Epub 2022 Dec 26. Pediatr Neurol. 2023. PMID: 36706484 No abstract available.
Morphological and biochemical studies of human beta-mannosidosis: identification of a novel beta-mannosidase gene mutation.
Uchino Y, Fukushige T, Yotsumoto S, Hashiguchi T, Taguchi H, Suzuki N, Konohana I, Kanzaki T. Uchino Y, et al. Br J Dermatol. 2003 Jul;149(1):23-9. doi: 10.1046/j.1365-2133.2003.05365.x. Br J Dermatol. 2003. PMID: 12890191
BACKGROUND: There are seven well-known lysosomal storage diseases that produce angiokeratoma corporis diffusum clinically. beta-Mannosidosis (MANB1; OMIM248510), first reported in humans in 1986, is a rare hereditary lysosomal storage disease caused by a deficiency …
BACKGROUND: There are seven well-known lysosomal storage diseases that produce angiokeratoma corporis diffusum clinically. beta-Ma …
Beta-mannosidosis mice: a model for the human lysosomal storage disease.
Zhu M, Lovell KL, Patterson JS, Saunders TL, Hughes ED, Friderici KH. Zhu M, et al. Hum Mol Genet. 2006 Feb 1;15(3):493-500. doi: 10.1093/hmg/ddi465. Epub 2005 Dec 23. Hum Mol Genet. 2006. PMID: 16377659
In human beta-mannosidosis, the clinical presentation is variable and can be mild, even when caused by functionally null mutations. ...This mouse model closely resembles human beta-mannosidosis and provides a useful tool for studying the phenotypic var …
In human beta-mannosidosis, the clinical presentation is variable and can be mild, even when caused by functionally null mutat …
The structure of mammalian beta-mannosidase provides insight into beta-mannosidosis and nystagmus.
Gytz H, Liang J, Liang Y, Gorelik A, Illes K, Nagar B. Gytz H, et al. FEBS J. 2019 Apr;286(7):1319-1331. doi: 10.1111/febs.14731. Epub 2019 Jan 3. FEBS J. 2019. PMID: 30552791 Free article.
Mutations in the MANBA gene, which encodes the beta-mannosidase, can lead to the lysosomal storage disease beta-mannosidosis, as well as nystagmus, an eye condition characterized by involuntary eye movements. ...
Mutations in the MANBA gene, which encodes the beta-mannosidase, can lead to the lysosomal storage disease beta-mannosidosis, …
Human beta-mannosidase cDNA characterization and first identification of a mutation associated with human beta-mannosidosis.
Alkhayat AH, Kraemer SA, Leipprandt JR, Macek M, Kleijer WJ, Friderici KH. Alkhayat AH, et al. Hum Mol Genet. 1998 Jan;7(1):75-83. doi: 10.1093/hmg/7.1.75. Hum Mol Genet. 1998. PMID: 9384606
Human beta-mannosidosis is an autosomal recessive, lysosomal storage disease caused by a deficiency of the enzyme beta-mannosidase. ...Mutation analysis of a Czech gypsy family with two siblings differently affected with beta-mannosidosis demonstrated …
Human beta-mannosidosis is an autosomal recessive, lysosomal storage disease caused by a deficiency of the enzyme beta-mannosi …
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 …
This review provides details on clinical features, genotype-phenotype correlations, enzymology and biochemical storage of four human glycopr …
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 lys …
The glycoprotein disorders are a group of lysosomal storage diseases (alpha-mannosidosis, aspartylglucosaminuria, beta-mannosidosi …
57 results