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Items: 1 to 20 of 32

1.
Familial Global Developmental Delay Secondary to β-Mannosidosis
Vykuntaraju K. Gowda, Balamurugan Nagarajan, Srividya G. Suryanarayana, Varunvenkat M. Srinivasan
J Pediatr Neurosci. 2021 Apr-Jun; 16(2): 149–152. Published online 2021 Jul 2. doi: 10.4103/jpn.JPN_65_20
PMCID:
PMC8706588
AbstractArticle
2.
Oral manifestation and dental treatment of pediatric patient with beta-mannosidosis: A case report
Mohammad A Alshoraim, Dania E Al Agili
SAGE Open Med Case Rep. 2021; 9: 2050313X211065796. Published online 2021 Dec 15. doi: 10.1177/2050313X211065796
PMCID:
PMC8679027
AbstractArticlePDF–2.1M
3.
Variant c.2158-2A>G in MANBA is an important and frequent cause of hereditary hearing loss and beta-mannosidosis among the Czech and Slovak Roma population- evidence for a new ethnic-specific variant
Dana Safka Brozkova, Lukas Varga, Anna Uhrova Meszarosova, Zuzana Slobodova, Martina Skopkova, Andrea Soltysova, Andrej Ficek, Jan Jencik, Jana Lastuvkova, Daniela Gasperikova, Pavel Seeman
Orphanet J Rare Dis. 2020; 15: 222. Published online 2020 Aug 26. doi: 10.1186/s13023-020-01508-3
PMCID:
PMC7448337
AbstractArticlePDF–986K
4.
Hereditary β-mannosidosis in a dog: clinicopathological and molecular genetic characterization
Pompei Bolfa, Ping Wang, Rajeev Nair, Sreekumari Rajeev, Anibal G. Armien, Paula S. Henthorn, Tim Wood, Mary Anna Thrall, Urs Giger
Mol Genet Metab. Author manuscript; available in PMC 2020 Sep 1.
Published in final edited form as: Mol Genet Metab. 2019 Sep-Oct; 128(1-2): 137–143. Published online 2019 Aug 10. doi: 10.1016/j.ymgme.2019.08.002
PMCID:
PMC6864274
AbstractArticlePDF–1.2M
5.
Biochemical and clinical response after umbilical cord blood transplant in a boy with early childhood‐onset beta‐mannosidosis
Troy C. Lund, Weston P. Miller, Julie B. Eisengart, Katrina Simmons, Laura Pollard, Deborah L. Renaud, David A. Wenger, Marc C. Patterson, Paul J Orchard
Mol Genet Genomic Med. 2019 Jul; 7(7): e00712. Published online 2019 May 21. doi: 10.1002/mgg3.712
PMCID:
PMC6625138
AbstractArticlePDF–584K
6.
β-Mannosidosis caused by a novel homozygous intragenic inverted duplication in MANBA
Maria Blomqvist, Marie Falkenberg Smeland, Julia Lindgren, Per Sikora, Hilde Monica Frostad Riise Stensland, Jorge Asin-Cayuela
Cold Spring Harb Mol Case Stud. 2019 Jun; 5(3): a003954. doi: 10.1101/mcs.a003954
PMCID:
PMC6549551
AbstractArticlePDF–5.6M
7.
Distribution and Severity of Neuropathology in β-Mannosidase-Deficient Mice is Strain Dependent
Kathryn L. Lovell, Mei Zhu, Meghan C. Drummond, Robert C. Switzer, III, Karen H. Friderici
JIMD Rep. 2014; 13: 73–81. Published online 2013 Oct 20. doi: 10.1007/8904_2013_258
PMCID:
PMC4110335
AbstractArticlePDF–601K
8.
A Clinically Severe Variant of β-Mannosidosis, Presenting with Neonatal Onset Epilepsy with Subsequent Evolution of Hydrocephalus
A Broomfield, R Gunny, I Ali, A Vellodi, P Prabhakar
JIMD Rep. 2013; 11: 93–97. Published online 2013 Apr 16. doi: 10.1007/8904_2013_227
PMCID:
PMC3755546
AbstractArticlePDF–182K
9.
A comparative structural bioinformatics analysis of inherited mutations in β-D-Mannosidase across multiple species reveals a genotype-phenotype correlation
Thi Huynh, Javed Mohammed Khan, Shoba Ranganathan
BMC Genomics. 2011; 12(Suppl 3): S22. Published online 2011 Nov 30. doi: 10.1186/1471-2164-12-S3-S22
PMCID:
PMC3333182
AbstractArticlePDF–2.1M
10.
A MANBA mutation resulting in residual beta-mannosidase activity associated with severe leukoencephalopathy: a possible pseudodeficiency variant
Frédérique Sabourdy, Pierre Labauge, Hilde Monica Frostad Riise Stensland, Michèle Nieto, Violeta Latorre Garcés, Dimitri Renard, Giovanni Castelnovo, Nicolas de Champfleur, Thierry Levade
BMC Med Genet. 2009; 10: 84. Published online 2009 Sep 3. doi: 10.1186/1471-2350-10-84
PMCID:
PMC2745377
AbstractArticlePDF–490K
11.
Production of Recombinant β-Hexosaminidase A, a Potential Enzyme for Replacement Therapy for Tay-Sachs and Sandhoff Diseases, in the Methylotrophic Yeast Ogataea minuta
Hiromi Akeboshi, Yasunori Chiba, Yoshiko Kasahara, Minako Takashiba, Yuki Takaoka, Mai Ohsawa, Youichi Tajima, Ikuo Kawashima, Daisuke Tsuji, Kohji Itoh, Hitoshi Sakuraba, Yoshifumi Jigami
Appl Environ Microbiol. 2007 Aug; 73(15): 4805–4812. Published online 2007 Jun 8. doi: 10.1128/AEM.00463-07
PMCID:
PMC1951009
AbstractArticlePDF–227K
12.
Caprine β-Mannosidosis in Kids from an Ontario Herd
J. L. Shapiro, C. Rostkowski, P. B. Little, L. Smith-Maxie, R. J. Julian, A. A. Van Dreumel
Can Vet J. 1985 May; 26(5): 155–158.
PMCID:
PMC1679981
SummaryPage BrowsePDF–1.4M
13.
Estimation of Genotype Distributions and Posterior Genotype Probabilities for β-Mannosidosis in Salers Cattle
J. F. Taylor, B. Abbitt, J. P. Walter, S. K. Davis, J. T. Jaques, R. F. Ochoa
Genetics. 1993 Nov; 135(3): 855–868. doi: 10.1093/genetics/135.3.855
PMCID:
PMC1205725
SummaryPDF–1.7M
14.
Partial purification of goat kidney beta-mannosidase.
J I Frei, K T Cavanagh, R A Fisher, R P Hausinger, M Dupuis, E J Rathke, M Z Jones
Biochem J. 1988 Feb 1; 249(3): 871–875. doi: 10.1042/bj2490871
PMCID:
PMC1148787
SummaryPage BrowsePDF–886K
15.
Absence of endo-beta-N-acetylglucosaminidase activity in the kidneys of sheep, cattle and pig.
Z W Song, S C Li, Y T Li
Biochem J. 1987 Nov 15; 248(1): 145–149. doi: 10.1042/bj2480145
PMCID:
PMC1148511
SummaryPage BrowsePDF–2.2M
16.
Properties and prenatal ontogeny of beta-D-mannosidase in selected goat tissues.
R D Pearce, J W Callahan, P B Little, D T Armstrong, D Kiehm, J T Clarke
Biochem J. 1987 Apr 15; 243(2): 603–609. doi: 10.1042/bj2430603
PMCID:
PMC1147897
SummaryPage BrowsePDF–1.1M
17.
Glycoprotein metabolism in normal and beta-mannosidase-deficient cultured goat skin fibroblasts.
L W Hancock, M Z Jones, G Dawson
Biochem J. 1986 Feb 15; 234(1): 175–183. doi: 10.1042/bj2340175
PMCID:
PMC1146542
SummaryPage BrowsePDF–1.5M
18.
Bovine kidney beta-mannosidase: purification and characterization.
B L Sopher, C E Traviss, K T Cavanagh, M Z Jones, K H Friderici
Biochem J. 1993 Jan 15; 289(Pt 2): 343–347. doi: 10.1042/bj2890343
PMCID:
PMC1132173
SummaryPage BrowsePDF–1.2M
19.
Impact of Multiple Sclerosis Risk Polymorphism rs7665090 on MANBA Activity, Lysosomal Endocytosis, and Lymphocyte Activation
Adela González-Jiménez, Pilar López-Cotarelo, Teresa Agudo-Jiménez, Ignacio Casanova, Carlos López de Silanes, Ángeles Martín-Requero, Fuencisla Matesanz, Elena Urcelay, Laura Espino-Paisán
Int J Mol Sci. 2022 Aug; 23(15): 8116. Published online 2022 Jul 23. doi: 10.3390/ijms23158116
PMCID:
PMC9331056
AbstractArticlePDF–1.5M
20.
Caprine beta-D-mannosidosis: characterization of a model lysosomal storage disorder.
R D Pearce, J W Callahan, P B Little, L R Klunder, J T Clarke
Can J Vet Res. 1990 Jan; 54(1): 22–29.
PMCID:
PMC1255602
SummaryPage BrowsePDF–1.5M

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