Alroy J, Schunk KL, Ranghavan SS, Warren CD, Daniel PF, Kolodny EH. Alpha-mannosidase deficiency in Persian cats: A model of hu- man alpha-mannosidosis. In: Salvayre R, Douste-Blazy L, Gatt S, eds. Lipid storage disorders. Plenum Publishing Corp. 1988;649-59...
α-甘露糖苷酶缺乏症基因解码、基因检测alpha-mannosidase deficiency gene decoding,gene test α-甘露糖苷酶缺乏症基因解码、基因检测deficiency of alpha-mannosidase gene decoding,gene test 溶酶体αB甘露糖苷症基因解码、基因检测lysosomal alpha B mannosidosis gene decoding,gene test ...
Alpha-Mannosidosis is a rare lysosomal storage disorder, caused by the deficiency of the enzyme alpha-Mannosidase. Clinically it is characterized by hearing impairment, skeletal and neurological abnormalities and mental retardation. In order to characterize the clinical features and disease progression of...
4.3 α-Mannosidase A decisive function of α-mannosidase in the processing of carbohydrate antigens has been clarified in the human system. Accordingly, DCs from a patient with congenital deficiency in α-mannosidase failed to present mycobacterial hexamannosylated phosphatidyl-myo-inositides (PIM6) ...
摘要: Alpha-mannosidosis is an autosomal recessive disorder caused by deficiency of lysosomal -mannnosidosis may contribute to the onset of systemic lupus erythematosus in predisposed patients.关键词: Kidney biopsy - Lysosomal -mannosidase - Lupus nephritis - Mannosidosis ...
Alpha-mannosidosis is an ultra-rare genetic disorder that begins in childhood and progresses through adulthood. It is characterized by a deficiency of the enzyme alpha-mannosidase that results in the body’s cells being unable to properly break down certain groups of...
When I was 3.5 years old, I was born with an ultra-rare disease called Alpha-Mannosidosis. This disease caused a deficiency of the mannosidase enzyme. With this deficiency, it wrecked havoc on every single one of my cells. This disease is degenerative and will get worse throughout the ye...
(Xia et al., 2020). The oil and gas well stimulation requirein situenzymatic hydrolysis of guar gum by α-galactosidase and β-mannosidase in deep, hot wells, which demands the use of thermostable and thermoactive enzymes that can operate at extremely high temperatures (Ma et al., 2021)....
SNP-mediated translational suppression of ERManI modifies the onset of end-stage liver disease in alpha1-antitrypsin deficiency Single nucleotide polymorphism-mediated translational suppression of endoplasmic reticulum mannosidase I modifies the onset of end-stage liver disease in alpha1-antitrypsin deficiency...
Alpha-mannosidosis is a rare genetic lysosomal storage disorder caused by the deficiency or malfunctioning of the alpha-mannosidase enzyme, which is responsible for the breakdown of mannose-containing oligosaccharides in the lysosomes of the cells. ...