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

Year Number of Results
1975 2
1976 2
1977 1
1978 3
1979 1
1980 4
1981 5
1982 4
1983 8
1984 5
1985 6
1986 5
1987 7
1988 4
1989 2
1990 16
1991 7
1992 15
1993 8
1994 4
1995 7
1996 2
1997 4
1998 4
1999 2
2001 1
2002 1
2003 3
2004 2
2005 3
2006 3
2007 2
2008 3
2009 2
2010 1
2011 5
2012 1
2013 3
2014 1
2016 1
2017 2
2018 1
2019 6
2020 2
2021 3
2022 2
2023 4
2024 1

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173 results

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Page 1
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.
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.
Lysosomal beta-D-mannosidase is the last exoglycosidase involved in the sequential degradation of the N-glycosylproteins glycans. Research on this enzyme was restricted before the discovery of its hereditary deficiency, first in goat (1981) and later in man (1986). We desc …
Lysosomal beta-D-mannosidase is the last exoglycosidase involved in the sequential degradation of the N-glycosylproteins glycans. Res …
[Beta-mannosidosis].
Yamaguchi S. Yamaguchi S. Ryoikibetsu Shokogun Shirizu. 1998;(19 Pt 2):458-9. Ryoikibetsu Shokogun Shirizu. 1998. PMID: 9645109 Review. Japanese. No abstract available.
beta-Mannosidosis in German Shepherd Dogs.
Jolly RD, Dittmer KE, Garrick DJ, Chernyavtseva A, Hemsley KM, King B, Fietz M, Shackleton NM, Fairley R, Wylie K. Jolly RD, et al. Vet Pathol. 2019 Sep;56(5):743-748. doi: 10.1177/0300985819839239. Epub 2019 Apr 14. Vet Pathol. 2019. PMID: 30983534
Vacuoles appeared empty with no storage material stained by periodic acid-Schiff (PAS) or Sudan black stains, leading to a diagnosis of a lysosomal storage disease and in particular an oligosaccharidosis. Biochemical and genomic studies showed that this was beta-mannosi …
Vacuoles appeared empty with no storage material stained by periodic acid-Schiff (PAS) or Sudan black stains, leading to a diagnosis of a ly …
Caprine beta-mannosidosis.
Jones MZ, Cunningham JG, Dade AW, Dawson G, Laine RA, Williams CS, Alessi DM, Mostosky UV, Vorro JR. Jones MZ, et al. Prog Clin Biol Res. 1982;94:165-76. Prog Clin Biol Res. 1982. PMID: 7122615 No abstract available.
Hereditary beta-mannosidosis in a dog: Clinicopathological and molecular genetic characterization.
Bolfa P, Wang P, Nair R, Rajeev S, Armien AG, Henthorn PS, Wood T, Thrall MA, Giger U. Bolfa P, et al. Mol Genet Metab. 2019 Sep-Oct;128(1-2):137-143. doi: 10.1016/j.ymgme.2019.08.002. Epub 2019 Aug 10. Mol Genet Metab. 2019. PMID: 31439511 Free PMC article.
Hereditary beta-mannosidosis causing progressive lysosomal neuropathy and other clinical signs, has been previously described in humans, Nubian goats, and Salers cattle. ...Hence, dogs with beta-mannosidosis could become a valuable disease model for th …
Hereditary beta-mannosidosis causing progressive lysosomal neuropathy and other clinical signs, has been previously described …
Beta-mannosidosis in a domestic cat associated with a missense variant in MANBA.
Katz ML, Cook J, Vite CH, Campbell RS, Coghill LM, Lyons LA. Katz ML, et al. Gene. 2024 Jan 30;893:147941. doi: 10.1016/j.gene.2023.147941. Epub 2023 Oct 31. Gene. 2024. PMID: 37913889 Free article.
Whole genome sequence analysis identified a homozygous missense variant c.2506G > A in MANBA that predicts a p.Gly836Arg alteration in the encoded lysosomal enzyme beta -mannosidase. This variant was not present in the whole genome or whole exome sequences of any of the …
Whole genome sequence analysis identified a homozygous missense variant c.2506G > A in MANBA that predicts a p.Gly836Arg alteration in th …
Familial Global Developmental Delay Secondary to beta-Mannosidosis.
Gowda VK, Nagarajan B, Suryanarayana SG, Srinivasan VM. Gowda VK, et al. J Pediatr Neurosci. 2021 Apr-Jun;16(2):149-152. doi: 10.4103/jpn.JPN_65_20. Epub 2021 Jul 2. J Pediatr Neurosci. 2021. PMID: 35018184 Free PMC article.
beta-Mannosidosis is a rare lysosomal storage disorder that is caused by a deficiency of beta-mannosidase activity, which is due to mutations of the MANBA gene. ...Fundus evaluation, hearing assessment, and skeletal survey were normal in both siblings. Enzyme …
beta-Mannosidosis is a rare lysosomal storage disorder that is caused by a deficiency of beta-mannosidase activity, whi …
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.
beta-Mannosidase is a lysosomal enzyme from the glycosyl hydrolase family 2 that cleaves the single beta(1-4)-linked mannose at the nonreducing end of N-glycosylated proteins, and plays an important role in the polysaccharide degradation pathway. Mutations in the MA …
beta-Mannosidase is a lysosomal enzyme from the glycosyl hydrolase family 2 that cleaves the single beta(1-4)-linked mannose a …
173 results