Alpha-mannosidosis is a lysosomal storage disorder caused by mutations in MAN2B1 gene. A 7-year-old girl child, born of a consanguineous marriage, presented with developmental delay, seizures, and hearing impairment. On examination, she had coarse features without hepatosplenomegaly. On ...
In alpha-Mannosidosis broad heterogeneity is seen not only in the clinical manifestations, but also in the spectrum of mutations of the alpha-Mannosidase gene (MAN2B1) that is located on chromosome 19p13.2. Currently, 125 different disease-causing mutations have been identified[4]. The ...
representing a continuum in severity. The disorder is caused by lysosomal alpha-mannosidase deficiency. Alpha-mannosidosis is inherited in an autosomal recessive fashion and is caused by mutations in theMAN2B1gene located on chromosome 19 (19 p13.2-q12). Diagnosis is made by measuring acid ...
Mutation analysis performed on six Italian families with alpha-mannosidosis type II allowed the identification of five new mutations in the MAN2B1 gene: c... M Sbaragli,L Bibi,MG Pittis,... - 《Human Mutation》 被引量: 52发表: 2005年 Spectrum of Mutations in α-Mannosidosis Summary...
Alpha-mannosidosis is inherited in an autosomal recessive fashion and is caused by mutations in the MAN2B1 gene located on chromosome 19 (19 p13.2-q12). Diagnosis is made by measuring acid alpha-mannosidase activity in leukocytes or other nucleated cells and can be confirmed by genetic testing...
Borgwardt L, Stensland HM, Olsen KJ, Wibrand F, Klenow HB, Beck M, Amraoui Y, Arash L, Fogh J, Nilssen O, Dali CI, Lund AM. Alpha- mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation. Orphanet J Rare Dis. 6;10:70, 2015...
Identification of 83 novel alpha-manno- sidosis-associated sequence variants: functional analysis of MAN2B1 missense mutations. Human mutation. 2012;33(3):511- 20.Riise Stensland HMF, Klenow HB, Nguyen LV, Hansen GM, Malm D, Nilssen Ø. Identification of 83 novel alpha-mannosidosis-...
Identification of 83 novel alpha-manno- sidosis-associated sequence variants: functional analysis of MAN2B1 missense mutations. Human mutation. 2012;33(3):511- 20.Riise Stensland HMF, Klenow HB, Nguyen LV, Hansen GM, Malm D, Nilssen Ø. Identification of 83 novel alpha-mannosidosis-...
MAN2B1Alpha-mannosidosisMortalityCause of deathNatural historyThis study suggests that pneumonia has been the primary cause of death during recent decades in untreated patients with alpha-mannosidosis, followed by cancer. Determining the causes of mortality and life expectancy in these patients is ...