Lysosomal storage disorders – development of diagnostic process and treatment in Slovakia
Authors:
K. Juríčková 1; S. Mattošová 2; A. Šalingová 3; P. Jungová 2; K. Brennerová 1; M. Kolníková 4; Ľ. Košťálová 1; A. Hlavatá 1
Authors place of work:
Detská klinika LFUK a NÚDCH, Centrum dedičných metabolických porúch, Bratislava
1; Ústav lekárskej biológie, genetiky a klinickej genetiky LFUK a UNB, Bratislava
2; Oddelenie laboratórnej medicíny NÚDCH, Centrum dedičných metabolických porúch, Bratislava
3; Klinika detskej neurológie LFUK a NÚDCH, Centrum dedičných metabolických porúch, Bratislava
4
Published in the journal:
Čes-slov Pediat 2018; 73 (6): 408-416.
Category:
Summary
Lysosomal storage disorders belong to the group of inborn errors of metabolism. During the last decade these diseases are losing the nickname „untreatable“. Since the end of 20th century the number of treatable disorders is constantly growing. Even better, with satisfactory therapeutic results.
Authors of this paper are describing the development and an availability of diagnostic procedures of lysosomal storage disorders in Slovakia. Furthermore, they add their own clinical experience with dealing with this type of diseases. They are focusing on pitfalls of commencing the treatment and managing the complications resulting from this therapy.
KEY WORDS:
lysosomal storage disorders, diagnostics, enzyme replacement therapy, substrate reducing therapy, bone marrow transplantation, complications of the treatment
Zdroje
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Štítky
Neonatology Paediatrics General practitioner for children and adolescentsČlánok vyšiel v časopise
Czech-Slovak Pediatrics
2018 Číslo 6
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Najčítanejšie v tomto čísle
- Characteristic clinical features and laboratory findings of inborn errors of metabolism
- A complex view of vitamin B12 deficiency in childhood
- Newborn screening of inherited metabolic diseases in the Czech Republic
- Lysosomal storage disorders – development of diagnostic process and treatment in Slovakia