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Statements

Subject Item
n2:RIV%2F00216208%3A11110%2F13%3A10191338%21RIV14-MSM-11110___
rdf:type
skos:Concept n6:Vysledek
rdfs:seeAlso
http://dx.doi.org/10.1186/1750-1172-8-88
dcterms:description
Background: 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 patients affected by alpha-Mannosidosis, a survey study was conducted. 43 patients from 4 European countries participated in this longitudinal study. Age range of the participants was 3 to 42 years. For each patient a medical history, complete physical and neurological examination, joint range of motion and assessment of physical endurance and of lung function were completed. In addition, serum and urinary oligosaccharide levels were analysed. Methods: In this multicenter longitudinal study clinical data of 43 alpha-Mannosidosis patients were collected. In addition to objective clinical measurements biochemical assays were performed. Results: Data analysis revealed a wide spectrum of clinical presentation regarding the severity and disease progression. Most clinical abnormalities were observed in the musculoskeletal and neurological system. All patients showed mental retardation and hearing loss from early childhood. An impairment in physical endurance was revealed by the 6-minute walk and 3-minute stair stair climb tests. There was only slight progression of a few clinical findings: Psychiatric troubles in both groups essentially, and respiratory dysfunction under 18 years. The serum and urinary oligosaccharide levels were increased in all affected individuals and correlated well with the 6-minute walk and 3-minute stair climb test results. Conclusions: This study confirms that alpha-Mannosidosis is a very heterogeneous disorder regarding both, disease severity and progression. Background: 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 patients affected by alpha-Mannosidosis, a survey study was conducted. 43 patients from 4 European countries participated in this longitudinal study. Age range of the participants was 3 to 42 years. For each patient a medical history, complete physical and neurological examination, joint range of motion and assessment of physical endurance and of lung function were completed. In addition, serum and urinary oligosaccharide levels were analysed. Methods: In this multicenter longitudinal study clinical data of 43 alpha-Mannosidosis patients were collected. In addition to objective clinical measurements biochemical assays were performed. Results: Data analysis revealed a wide spectrum of clinical presentation regarding the severity and disease progression. Most clinical abnormalities were observed in the musculoskeletal and neurological system. All patients showed mental retardation and hearing loss from early childhood. An impairment in physical endurance was revealed by the 6-minute walk and 3-minute stair stair climb tests. There was only slight progression of a few clinical findings: Psychiatric troubles in both groups essentially, and respiratory dysfunction under 18 years. The serum and urinary oligosaccharide levels were increased in all affected individuals and correlated well with the 6-minute walk and 3-minute stair climb test results. Conclusions: This study confirms that alpha-Mannosidosis is a very heterogeneous disorder regarding both, disease severity and progression.
dcterms:title
Natural history of alpha mannosidosis a longitudinal study Natural history of alpha mannosidosis a longitudinal study
skos:prefLabel
Natural history of alpha mannosidosis a longitudinal study Natural history of alpha mannosidosis a longitudinal study
skos:notation
RIV/00216208:11110/13:10191338!RIV14-MSM-11110___
n6:predkladatel
n7:orjk%3A11110
n5:aktivita
n16:R
n5:aktivity
R
n5:cisloPeriodika
8
n5:dodaniDat
n10:2014
n5:domaciTvurceVysledku
n13:6270875
n5:druhVysledku
n19:J
n5:duvernostUdaju
n20:S
n5:entitaPredkladatele
n17:predkladatel
n5:idSjednocenehoVysledku
90844
n5:idVysledku
RIV/00216208:11110/13:10191338
n5:jazykVysledku
n12:eng
n5:klicovaSlova
Survey study; Oligosaccharides; Oligosaccharidosis; Natural history; Alpha-mannosidosis
n5:klicoveSlovo
n8:Oligosaccharidosis n8:Natural%20history n8:Alpha-mannosidosis n8:Oligosaccharides n8:Survey%20study
n5:kodStatuVydavatele
GB - Spojené království Velké Británie a Severního Irska
n5:kontrolniKodProRIV
[4065998A8E38]
n5:nazevZdroje
Orphanet Journal of Rare Diseases
n5:obor
n9:EB
n5:pocetDomacichTvurcuVysledku
1
n5:pocetTvurcuVysledku
8
n5:rokUplatneniVysledku
n10:2013
n5:svazekPeriodika
8
n5:tvurceVysledku
Zeman, Jiří Saftig, Paul Olsen, Klaus J. Michalski, Jean-Claude Wraith, James E. Beck, Michael Fogh, Jens Malm, Dag
n5:wos
000320733400001
s:issn
1750-1172
s:numberOfPages
13
n15:doi
10.1186/1750-1172-8-88
n3:organizacniJednotka
11110