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         Mannosidosis:     more detail
  1. Mannosidosis: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Linnea, MS Wahl, 2005

81. Caprine Beta-mannosidosis: Phenotypic Features -- Kumar Et Al. 118 (12): 325 --
The clinical features of caprine betamannosidosis were evaluated in 10 newborn goats, one stillborn goat and one goat fetus. The phenotypic abnormalities
http://veterinaryrecord.bvapublications.com/cgi/content/abstract/118/12/325
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Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager ... Request Permissions PubMed PubMed Citation Articles by Kumar, K Articles by Lovell, K. The Veterinary Record, Vol 118, Issue 12, 325-327
Caprine beta-mannosidosis: phenotypic features K Kumar, MZ Jones, JG Cunningham, JA Kelley, and KL Lovell The clinical features of caprine beta-mannosidosis were evaluated in 10 newborn goats, one stillborn goat and one goat fetus. The phenotypic abnormalities observed in all 10 live affected animals included an inability to rise from a recumbent position, moderate to marked intention tremor, eye movements resembling pendular nystagmus, clinical deafness, bilateral Horner's syndrome, carpal contractures, pastern joint hyperextension, thickened skin and to a varying degree, a dome-shaped skull. Subjective evaluation suggested that most animals had a decreased muscle mass. Together, these characteristics represent a common phenotype which is expressed at birth in caprine beta-mannosidosis.
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82. Mannosidosis In Aberdeen Angus Cattle In Britain -- Barlow Et Al. 109 (20): 441
mannosidosis, an inherited and lethal lysosomal storage disease of Aberdeen Angus cattle, was diagnosed on a farm in northeast Scotland.
http://veterinaryrecord.bvapublications.com/cgi/content/abstract/109/20/441
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Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager ... Request Permissions PubMed PubMed Citation Articles by Barlow, R. Articles by Berrett, S The Veterinary Record, Vol 109, Issue 20, 441-445
Mannosidosis in Aberdeen Angus cattle in Britain RM Barlow, A Mackellar, G Newlands, A Wiseman, and S Berrett Mannosidosis, an inherited and lethal lysosomal storage disease of Aberdeen Angus cattle, was diagnosed on a farm in north-east Scotland. Two affected calves were examined in detail. Both were poorly grown and ataxic, though the intention tremor and aggression considered characteristic of the disease were not recorded. Histological examination revealed typical vacuolation of nerve cells, fixed macrophages and epithelial cells of the viscera. Deficiency of the enzyme alpha mannosidase was demonstrated. The epidemiology of the disorder in Scotland is considered and control methods indicated.
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83. The EyePathologist Disease - M
mannosidosis Klintworth, Gordon K. mannosidosis type I - Klintworth, Gordon K. mannosidosis type II - Klintworth, Gordon K.
http://www.eyepathologist.com/LIST.ASP?Title=M

84. Urinary Oligosaccharides Of Mannosidosis -- Yamashita Et Al. 255 (11): 5126 -- J

http://www.jbc.org/cgi/reprint/255/11/5126
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85. Www.nlm.nih.gov/cgi/mesh/2K/MB_cgi?term=Mannosidosis
Cancer Resources—Cancer News, Cancer Conferences, Cancer Causes Targeted gene therapy effective in alphamannosidosis. Reuters Health Posting Date March 22, 2005. Last Updated 2005-03-22 165509 -0400 (Reuters Health)
http://www.nlm.nih.gov/cgi/mesh/2K/MB_cgi?term=Mannosidosis

86. Free Genealogy Search :: Health : Conditions_and_Diseases : Genetic_Disorders :
PDF “ HE HAS HAD GROMMETS FOR HIS GLUE EAR. “ HE HAS HAD GROMMETS FOR
http://www.lineages.co.uk/dwodp/index.php/Health/Conditions_and_Diseases/Genetic
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Genealogy Search :: Health : Conditions_and_Diseases : Genetic_Disorders : Mannosidosis :
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Search: search the entire directory search this category only Top Health Mannosidosis See also: Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor The content of this directory is based on the Open Directory and may have been modified by DWodp Powered by DWodp live

87. Arch Intern Med -- Abstract: Pancytopenia In Mannosidosis, June 1, 1983, Press E
Pancytopenia in mannosidosis. OW Press, H. Fingert, IT Lott and CR Dickersin. A case of autoimmune pancytopenia is described in a patient with mannosidosis
http://archinte.ama-assn.org/cgi/content/abstract/143/6/1266
Select Journal or Resource JAMA Archives of Dermatology Facial Plastic Surgery Family Medicine (1992-2000) General Psychiatry Internal Medicine Neurology Ophthalmology Surgery Student JAMA (1998-2004) JAMA CareerNet For The Media Meetings Peer Review Congress
Vol. 143 No. 6, June 1, 1983 Featured Link E-mail Alerts ARTICLE Article Options Send to a Friend Similar articles in this journal Literature Track Add to File Drawer Download to Citation Manager PubMed citation Articles in PubMed by Press OW Dickersin CR Contact me when this article is cited
Pancytopenia in mannosidosis
O. W. Press, H. Fingert, I. T. Lott and C. R. Dickersin
A case of autoimmune pancytopenia is described in a patient with mannosidosis who developed anti-platelet and anti-neutrophil antibodies and a low haptoglobin level. Bone marrow biopsy and 111InCl3 bone marrow scanning demonstrated hypoplasia of the marrow with a paucity of "storage cells." Pathogenic mechanisms and implications for other inborn errors of metabolism are discussed.
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88. Structure Of The Bovine Lysosomal Alpha-Mannosidase, The Enzyme Involved In The
These include mannosidosis, which is a rare disease in humans, cattle, Two protein level -mannosidosis mutations have been identified in cattle and six
http://www.esrf.fr/UsersAndScience/Publications/Highlights/2002/MX/MX7/printview
The European Synchrotron Radiation Facility
Printed on: 09/09/2005 Printable version of http://www.esrf.fr/UsersAndScience/Publications/Highlights/2002/MX/MX7/
Structure of the Bovine Lysosomal alpha-Mannosidase, the Enzyme Involved in the Lysosomal Storage Disease alpha-Mannosidosis
Lysosomal -mannosidase (LAM) is a member of the glycosyl hydrolase family GH38. It hydrolyses all known -mannosidic linkages in lysosomes. Lysosomes are cellular particles, which are responsible for the breakdown of cellular end products. They have an internal pH of 4.5 and are thus much more acidic than the rest of the cell. Errors in lysosomal processes lead to a number of inherited lysosomal storage diseases, many of which are very serious. These include -mannosidosis, which is a rare disease in humans, cattle, cats and guinea pig. Lack of LAM activity causes swelling of the lysosomal vacuoles, and apparently leaking of the unhydrolysed sugars from these vacuoles causes the symptoms of the disease; mental retardation, skeletal changes, hearing loss and reduced immunity in humans . Two protein level -mannosidosis mutations have been identified in cattle and six in humans.

89. Structure Of The Bovine Lysosomal Alpha-Mannosidase, The Enzyme Involved In The
Mutations in the LAM amino acid sequence that cause mannosidosis in humans Both mutations causing -mannosidosis in cattle 2 are related to the active
http://www.esrf.fr/UsersAndScience/Publications/Highlights/2002/MX/MX7/
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European Synchrotron Radiation Facility
Contact Phonebook SiteMap Advanced search Macromolecular Crystallography Structure of the Outer-Membrane Mitochondrial Monoamine Oxidase B Structure of the Electron-transfer Complex of Cytochrome c and Cytochrome ... Macromolecular Crystallography
Structure of the Bovine Lysosomal alpha-Mannosidase, the Enzyme Involved in the Lysosomal Storage Disease alpha-Mannosidosis
Lysosomal -mannosidase (LAM) is a member of the glycosyl hydrolase family GH38. It hydrolyses all known -mannosidic linkages in lysosomes. Lysosomes are cellular particles, which are responsible for the breakdown of cellular end products. They have an internal pH of 4.5 and are thus much more acidic than the rest of the cell. Errors in lysosomal processes lead to a number of inherited lysosomal storage diseases, many of which are very serious. These include -mannosidosis, which is a rare disease in humans, cattle, cats and guinea pig. Lack of LAM activity causes swelling of the lysosomal vacuoles, and apparently leaking of the unhydrolysed sugars from these vacuoles causes the symptoms of the disease; mental retardation, skeletal changes, hearing loss and reduced immunity in humans . Two protein level -mannosidosis mutations have been identified in cattle and six in humans.

90. Referenes.html
Oligosaccharides accumulated in the bovine betamannosidosis kidney Possible beta-mannosidosis chimera. Altered expression of metabolic perturbations
http://www.fukuyama-u.ac.jp/life/bio/biochem/paper3.html
Akasaki, K., Yamaguchi, Y., Ohta, M., Matsuura, F., Furuno, K. and Tsuji, H.
Purification and characterization of a major glycoprotein in rat liver lysosomal membrane
Chem Pharm Bull (Tokyo) 38, 2766-70 (1990)
Jardine, I., Matsuura, F. and Sweeley, C.C.
Electron ionization mass spectra of reduced and permethylated urinary oligosaccharides from patients with mannosidosis
Biomed Mass Spectrom 11, 562-8 (1984)
Jones, M.Z., Rathke, E.J., Gage, D.A., Costello, C.E., Murakami, K., Ohta, M. and Matsuura, F.
Oligosaccharides accumulated in the bovine beta-mannosidosis kidney
J Inherit Metab Dis 15, 57-67 (1992)
Jones, M.Z., Cavanagh, K.T., Kranich, R., Traviss, C., Fujita, Y., Ohta, M. and Matsuura, F.
Possible beta-mannosidosis chimera. Altered expression of metabolic perturbations J Inherit Metab Dis 16, 1012-23 (1993) Lovell, K.L., Matsuura, F., Patterson, J., Baeverfjord, G., Ames, N.K. and Jones, M.Z. Biochemical and morphological expression of early prenatal caprine beta- mannosidosis Prenat Diagn 17, 551-7 (1997)

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