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 an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual disability. It occurs in approximately 1 of 500,000 live births. The children are often born apparently normal, and their condition ...
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...
Breeding experiments were conducted in 1984, 1985 and 1986, using Angus and Galloway bulls and cows that were obligatory heterozygotes for alpha-mannosidosis. Sixty-nine calves were born in the herd of which 16 were diagnosed as cases of alpha-mannosidosis. The clinical and pathological findin...
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
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...
Alpha-mannosidosis is a lysosomal storage disease with autosomal recessive inheritance caused by a deficiency of the lysosomal alpha-mannosidase, which is ... S.Stinchi,R.Lüllmann-Rauch,D.Hartmann,... - 《Human Molecular Genetics》 被引量: 85发表: 1999年 Identification and characterization of...