prikaz prve stranice dokumenta The landscape of Mucopolysaccharidosis in Southern and Eastern European countries: a survey from 19 specialistic centers
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The landscape of Mucopolysaccharidosis in Southern and Eastern European countries: a survey from 19 specialistic centers
Orphanet Journal of Rare Diseases, 17 (2022), 1; 136. https://doi.org/10.1186/s13023-022-02285-x
Tylki-Szymańska, Anna; Almássy, Zsuzsanna; Christophidou-Anastasiadou, Violetta; Avdjieva-Tzavella, Daniela; Barišić, Ingeborg; Cerkauskiene, Rimante; Cuturilo, Goran; Djiordjevic, Maja; Gucev, Zoran; Hlavata, Anna; Kieć-Wilk, Beata; Magner, Martin; Pećin, Ivan; Plaiasu, Vasilica; Samardzic, Mira; Zafeiriou, Dimitrios; Zaganas, Ioannis; Lampe, Christina Više autora...

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Tylki Szymańska, A., Almássy, Z., Christophidou Anastasiadou, V., Avdjieva Tzavella, D., Barišić, I., Cerkauskiene, R. ... Lampe, C. (2022). The landscape of Mucopolysaccharidosis in Southern and Eastern European countries: a survey from 19 specialistic centers. Orphanet Journal of Rare Diseases, 17. (1). doi: 10.1186/s13023-022-02285-x

Tylki Szymańska, Anna, et al. "The landscape of Mucopolysaccharidosis in Southern and Eastern European countries: a survey from 19 specialistic centers." Orphanet Journal of Rare Diseases, vol. 17, br. 1, 2022. https://doi.org/10.1186/s13023-022-02285-x

Tylki Szymańska, Anna, Zsuzsanna Almássy, Violetta Christophidou Anastasiadou, Daniela Avdjieva Tzavella, Ingeborg Barišić, Rimante Cerkauskiene, Goran Cuturilo, et al. "The landscape of Mucopolysaccharidosis in Southern and Eastern European countries: a survey from 19 specialistic centers." Orphanet Journal of Rare Diseases 17, br. 1 (2022). https://doi.org/10.1186/s13023-022-02285-x

Tylki Szymańska, A., et al. (2022) 'The landscape of Mucopolysaccharidosis in Southern and Eastern European countries: a survey from 19 specialistic centers', Orphanet Journal of Rare Diseases, 17(1). doi: 10.1186/s13023-022-02285-x

Tylki Szymańska A, Almássy Z, Christophidou Anastasiadou V, Avdjieva Tzavella D, Barišić I, Cerkauskiene R, i sur.. The landscape of Mucopolysaccharidosis in Southern and Eastern European countries: a survey from 19 specialistic centers. Orphanet Journal of Rare Diseases [Internet]. 24.03.2022. [pristupljeno 20.12.2024.];17(1). doi: 10.1186/s13023-022-02285-x

A. Tylki Szymańska, et al., "The landscape of Mucopolysaccharidosis in Southern and Eastern European countries: a survey from 19 specialistic centers", Orphanet Journal of Rare Diseases, vol. 17, br. 1, Ožujak 2022. [Online]. Dostupno na: https://urn.nsk.hr/urn:nbn:hr:105:576120. [Citirano: 20.12.2024.]

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Naslov (engleski)The landscape of Mucopolysaccharidosis in Southern and Eastern European countries: a survey from 19 specialistic centers
AutorAnna Tylki-Szymańska
AutorZsuzsanna Almássy
AutorVioletta Christophidou-Anastasiadou
AutorDaniela Avdjieva-Tzavella
AutorIngeborg Barišić
AutorRimante Cerkauskiene
AutorGoran Cuturilo
AutorMaja Djiordjevic
AutorZoran Gucev
AutorAnna Hlavata
AutorBeata Kieć-Wilk
AutorMartin Magner
AutorIvan Pećin
AutorVasilica Plaiasu
AutorMira Samardzic
AutorDimitrios Zafeiriou
AutorIoannis Zaganas
AutorChristina Lampe
Autorova ustanovaSveučilište u Zagrebu
Medicinski fakultet
(KATEDRA ZA INTERNU MEDICINU)
Znanstveno / umjetničko
područje, polje i grana		BIOMEDICINA I ZDRAVSTVO
Kliničke medicinske znanosti
Interna medicina
Sažetak (engleski)
Background: Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders caused by defects in genes coding for different lysosomal enzymes which degrade glycosaminoglycans. Impaired lysosomal degradation causes cell dysfunction leading to progressive multiorgan involvement, disabling consequences and poor life expectancy. Enzyme replacement therapy (ERT) is now available for most MPS types, offering beneficial effects on disease progression and improving quality of life of patients. The landscape of MPS in Europe is not completely described and studies on availability of treatment show that ERT is not adequately implemented, particularly in Southern and Eastern Europe. In this study we performed a survey analysis in main specialist centers in Southern and Eastern European countries, to outline the picture of disease management in the region and understand ERT implementation. Since the considerable number of MPS IVA patients in the region, particularly adults, the study mainly focused on MPS IVA management and treatment. ----- Results: 19 experts from 14 Southern and Eastern European countries in total responded to the survey. Results outlined a picture of MPS management in the region, with a high number of MPS patients managed in the centers and a high level of care. MPS II was the most prevalent followed by MPS IVA, with a particular high number of adult patients. The study particularly focused on management and treatment of MPS IVA patients. Adherence to current European Guidelines for follow-up of MPS IVA patients is generally adequate, although some important assessments are reported as difficult due to the lack of MPS skilled specialists. Availability of ERT in Southern and Eastern European countries is generally in line with other European regions, even though regulatory, organizational and reimbursement constrains are demanding. ----- Conclusions: The landscape of MPS in Southern and Eastern European countries is generally comparable to that of other European regions, regarding epidemiology, treatment accessibility and follow up difficulties. However, issues limiting ERT availability and reimbursement should be simplified, to start treatment as early as possible and make it available for more patients. Besides, educational programs dedicated to specialists should be implemented, particularly for pediatricians, clinical geneticists, surgeons, anesthesiologists and neurologists.
Ključne riječi (engleski)
Jezikengleski
Vrsta publikacijeZnanstveni rad - Izvorni znanstveni rad
Status objaveObjavljen
Vrsta recenzijeRecenziran
Verzija publikacijeObjavljena verzija rada (izdavačev PDF)
Naslov časopisaOrphanet Journal of Rare Diseases
Brojčani podacivol. 17, br. 1, 136
e-ISSN1750-1172
DOIhttps://doi.org/10.1186/s13023-022-02285-x
URN:NBNurn:nbn:hr:105:576120
Datum objave publikacije2022-03-24
URL dokumentahttps://ojrd.biomedcentral.com/articles/10.1186/s13023-022-02285-x
Vrsta resursaTekst
Prava pristupaOtvoreni pristup
Uvjeti korištenjaIkona licence Imenovanje 4.0 međunarodna (CC BY 4.0)
Datum i vrijeme pohrane2022-09-26 09:33:48