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 3:21. : 10.1186/1750-1172-3-21Malm D, Nilssen O (2008) Alpha-mannosidosis. Orphanet J Rare Dis 3:21...
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...
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
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...
Alpha-mannosidosis is a rare lysosomal storage disorder that generally presents in early childhood. It is a progressive, highly heterogeneous disease that is difficult to recognize, and a diagnosis is usually reached after referrals to multiple specialists. It is important to understand the challenges...