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、...
F., Bone-Marrow Transplantation in the Treatment of Alpha-Mannosidosis. Archives of Disease in Childhood 1987, 62 (10), 1044-1049.Will, A., Cooper, A., Hatton, C., Sardharwalla, I.B., Evans, D.I. and Stevens, R.F. (1987) Bone marrow transplantation in the treatment of alpha-...
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...
Inα-mannosidosis all cells are devoid ofα-mannosidase activity. Early observations showed that cells producingα-mannosidase were able to transfer the enzyme to mannosidosis cells [63,66]. The rationale for bone marrow transplantation (BMT) in mannosidosis is that enzyme-producing donor cells...
“As someone who knows personally how devastating alpha-mannosidosis can be, this is an important milestone toward a potential first treatment option that addresses the root cause of the disease and is bringing patients, parents, families and caregivers hope for a bett...
Effective treatment of α-mannosidosis by allogeneic hematopoietic stem cell transplantation To study the efficacy of hematopoietic stem cell transplantation (HCT) for ameliorating the clinical manifestations of α-mannosidosis. Four patients with ... SS Grewal,EG Shapiro,W Krivit,... - 《J Pedia...
Alpha-mannosidosis is a rare lysosomal storage disorder that generally presents in early childhood. It is a progressive, highly heterogeneous disease that
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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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...