α-甘露糖苷症基因检测是对英文为Alpha-mannosidosis的疾病不同类型进行基因检测的总称,该病又称为α-D-甘露糖苷症,α-甘露糖苷酶B缺乏症,α-甘露糖苷酶缺乏症,溶酶体αB甘露糖苷症,溶酶体α-D-甘露糖苷酶缺乏症,甘露糖苷症。 携带有不同致病基因突变的患者具有不同的临床特征,包括轻度至中度智力残疾、...
Alpha-mannosidosis is a lysosomal storage disorder caused by deficient activity of the enzyme alpha-D-mannosidase (see Alpha-Mannosidase). In humans it is known to be caused by an autosomal recessive genetic mutation. In livestock it is caused by chronic poisoning with swainsonine (see Locoweed...
Mannosidosis patients suffer from recurrent infection, especially in the first decade of life. In one single patient, impaired leukocyte chemotaxis and reduced phagocytosis were found [9]. Malm and co-workers compared the humoral and cellular immunological functioning in six patients to that of six...
Alpha-mannosidosis (±-mannosidosis) is a rare lysosomal storage disorder with an autosomal recessive inheritance caused by mutations in the gene encoding for the lysosomal ±-d-mannosidase. So far, 155 variants from 191 patients have been identified and in part characterized at the biochemical...
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...
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Alpha-mannosidosis is a rare lysosomal storage disease. Hematopoietic SCT (HSCT) is usually recommended as a therapeutic option though reports are anecdotal to date. This retrospective multi institutional analysis describes 17 patients that were diagnosed at a median of 2.5 (1.1-23) years and unde...
Nothing is Impossible! From being born with an ultra-rare disease, Alpha-Mannosidosis to being the Communications Officer for ISMRD and a soon to be college graduate. Life is much more than a diagnosis. Nothing is impossible even if it seems crazy to you
Summary: Mutation analysis performed on two Italian patients with α-mannosidosis allowed the identification of two new mutations, IVS20−2A>G and 322–323insA. The patients were both homozygous for these mutations. The first mutation causes skipping of exon 21, whereas the second causes a fr...
We tested the efficacy of cisterna magna infusion of adeno-associated virus type 1 (AAV1) expressing feline alpha-mannosidase gene in the postsymptomatic alpha-mannosidosis (AMD) cat, a homologue of the human disease. Lysosomal alpha-mannosidase (MANB) activity in the cerebrospinal fluid (CSF...