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fabryjeva bolezen je dedna heterogena in multisistemska progresivna bolezen, ki prizadene tako moške kot ženske.
fabry disease is an inherited heterogeneous and multisystemic progressive disease, that affects both males and females.
Last Update: 2017-04-26
Usage Frequency: 3
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medtem ko približno 80 % okužb mine brez simptomov, se pri preostalih bolnikih pojavi huda multisistemska bolezen, pri čemer lahko do 15 % hospitaliziranih bolnikov umre.
while about 80% of the infections go with no symptoms, the remaining patients develop severe multi-system disease and up to 15% of the hospitalized cases may die.
Last Update: 2014-06-03
Usage Frequency: 1
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mps vi je heterogena in multisistemska motnja, za katero je značilen primanjkljaj n-acetilgalaktozamin-4-sulfataze, lizosomalne hidrolaze, ki katalizira hidrolizo sulfatnega dela glikozaminoglikana, dermatan sulfata.
mps vi is a heterogeneous and multisystemic disorder characterized by the deficiency of n-acetylgalactoasamine 4-sulfatase, a lysosomal hydrolase which catalyses the hydrolysis of sulfate moiety of the glycosaminoglycan, dermatan sulfate.
Last Update: 2017-04-26
Usage Frequency: 3
Quality: