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、...
Malm D, Nilssen O (2008) Alpha-mannosidosis. Orphanet J Rare Dis 3:21. : 10.1186/1750-1172-3-21Malm D, Nilssen O (2008) Alpha-mannosidosis. Orphanet J Rare Dis : 10.1186/1750-1172-3-21Malm D, Nilssen Ø (2008–2011) Alpha-mannosidosis. Orphanet J Rare Dis 3:21....
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...
图书Alpha-Mannosidosis 介绍、书评、论坛及推荐
RhymesNear rhymesRelated wordsPhrasesPhrase rhymes[Definitions]Same consonants Sorry, we don't have a definition for this word or phrase. Try one of the links below. Wikipedia titles that match: Alpha-mannosidosis
Real world reflections of the patient odyssey in alpha-mannosidosis: Insights and challenges in diagnosis from caregiver interviews doi:10.1016/j.ymgme.2024.108943Molecular Genetics and MetabolismSonia Antonella SgroJordi CruzF. Derya BulutEngin KseLeyla S. Namazova-BaranovaNatalia V. ZhurkovaNato V...
alpha-mannosidosisenzyme replacement therapylong-term efficacy and safetylysosomal storage disorderrecombinant enzymesvelmanase alfaEnzyme replacement therapy (ERT) using velmanase alfa previously showed promising efficacy and safety outcomes for up to 4 years of therapy in patients with alpha-mannosido...
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...
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...
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...