TY  - JOUR
AU  - Zerjav Tansek, Mojca
AU  - Groselj, Urh
AU  - Angelkova, Natalija
AU  - Anton, Dana
AU  - Barić, Ivo
AU  - Đorđević, Maja
AU  - Grimci, Lindita
AU  - Ivanova, Maria
AU  - Kadam, Adil
AU  - Kotori, Vjosa
AU  - Maksić, Hajrija
AU  - Marginean, Oana
AU  - Margineanu, Otilia
AU  - Miljanović, Olivera
AU  - Moldovanu, Florentina
AU  - Muresan, Mariana
AU  - Nanu, Michaela
AU  - Samardzić, Mira
AU  - Sarnavka, Vladimir
AU  - Savov, Aleksei
AU  - Stojiljković, Maja
AU  - Suzić, Biljana
AU  - Tincheva, Radka
AU  - Tahirović, Husref
AU  - Toromanović, Alma
AU  - Usurelu, Natalia
AU  - Battelino, Tadej
PY  - 2015
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/808
AB  - Background: We aimed to assess the current state of PKU screening and management in the region of southeastern Europe. Methods: A survey was performed involving all identified professionals responsible for the PKU management in the 11 countries from South-Eastern region of Europe (Albania, Bulgaria, Bosnia and Herzegovina, Croatia, Kosovo, Macedonia, Moldova, Montenegro, Romania, Serbia, Slovenia). The questionnaire was designed to assess the characteristics regarding PKU management in three main areas: nation-wide characteristics, PKU screening, and characteristics of the PKU management in the responding centre. It consisted of 56 questions. The distribution and collection of the questionnaires (via e-mail) was taking place from December 2013 to March 2014. Results: Responses from participants from 11 countries were included; the countries cumulative population is approx. 52.5 mio. PKU screening was not yet introduced in 4 of 11 countries. Reported PKU incidences ranged from 1/7325 to 1/39338 (and were not known for 5 countries). National PKU guidelines existed in 5 of 11 countries and 7 of 11 countries had PKU registry (registries included 40 to 194 patients). The number of PKU centers in each country varied from1 to 6. Routine genetic diagnostics was reported in 4 of 11 countries. Most commonly used laboratory method to assess phenylalanine levels was fluorometric. Tetrahydrobiopterine was used in only 2 of 11 countries. Most frequently, pediatricians were caring for the patients. Dietitian was a member of PKU team in only 4 of 11 countries, while regular psychological assessments were performed in 6 of 11 countries. Patient's PKU society existed in 7 of 11 countries. Conclusions: The region of southeastern Europe was facing certain important challenges of PKU screening and management. Neonatal PKU screening should be introduced throughout the region. Furthermore, PKU management was falling behind internationally established standards-of-care in many aspects.
PB  - BMC, London
T2  - Orphanet Journal of Rare Diseases
T1  - Phenylketonuria screening and management in southeastern Europe - survey results from 11 countries
VL  - 10
DO  - 10.1186/s13023-015-0283-0
ER  - 

@article{
author = "Zerjav Tansek, Mojca and Groselj, Urh and Angelkova, Natalija and Anton, Dana and Barić, Ivo and Đorđević, Maja and Grimci, Lindita and Ivanova, Maria and Kadam, Adil and Kotori, Vjosa and Maksić, Hajrija and Marginean, Oana and Margineanu, Otilia and Miljanović, Olivera and Moldovanu, Florentina and Muresan, Mariana and Nanu, Michaela and Samardzić, Mira and Sarnavka, Vladimir and Savov, Aleksei and Stojiljković, Maja and Suzić, Biljana and Tincheva, Radka and Tahirović, Husref and Toromanović, Alma and Usurelu, Natalia and Battelino, Tadej",
year = "2015",
abstract = "Background: We aimed to assess the current state of PKU screening and management in the region of southeastern Europe. Methods: A survey was performed involving all identified professionals responsible for the PKU management in the 11 countries from South-Eastern region of Europe (Albania, Bulgaria, Bosnia and Herzegovina, Croatia, Kosovo, Macedonia, Moldova, Montenegro, Romania, Serbia, Slovenia). The questionnaire was designed to assess the characteristics regarding PKU management in three main areas: nation-wide characteristics, PKU screening, and characteristics of the PKU management in the responding centre. It consisted of 56 questions. The distribution and collection of the questionnaires (via e-mail) was taking place from December 2013 to March 2014. Results: Responses from participants from 11 countries were included; the countries cumulative population is approx. 52.5 mio. PKU screening was not yet introduced in 4 of 11 countries. Reported PKU incidences ranged from 1/7325 to 1/39338 (and were not known for 5 countries). National PKU guidelines existed in 5 of 11 countries and 7 of 11 countries had PKU registry (registries included 40 to 194 patients). The number of PKU centers in each country varied from1 to 6. Routine genetic diagnostics was reported in 4 of 11 countries. Most commonly used laboratory method to assess phenylalanine levels was fluorometric. Tetrahydrobiopterine was used in only 2 of 11 countries. Most frequently, pediatricians were caring for the patients. Dietitian was a member of PKU team in only 4 of 11 countries, while regular psychological assessments were performed in 6 of 11 countries. Patient's PKU society existed in 7 of 11 countries. Conclusions: The region of southeastern Europe was facing certain important challenges of PKU screening and management. Neonatal PKU screening should be introduced throughout the region. Furthermore, PKU management was falling behind internationally established standards-of-care in many aspects.",
publisher = "BMC, London",
journal = "Orphanet Journal of Rare Diseases",
title = "Phenylketonuria screening and management in southeastern Europe - survey results from 11 countries",
volume = "10",
doi = "10.1186/s13023-015-0283-0"
}

Zerjav Tansek, M., Groselj, U., Angelkova, N., Anton, D., Barić, I., Đorđević, M., Grimci, L., Ivanova, M., Kadam, A., Kotori, V., Maksić, H., Marginean, O., Margineanu, O., Miljanović, O., Moldovanu, F., Muresan, M., Nanu, M., Samardzić, M., Sarnavka, V., Savov, A., Stojiljković, M., Suzić, B., Tincheva, R., Tahirović, H., Toromanović, A., Usurelu, N.,& Battelino, T.. (2015). Phenylketonuria screening and management in southeastern Europe - survey results from 11 countries. in Orphanet Journal of Rare Diseases
BMC, London., 10.
https://doi.org/10.1186/s13023-015-0283-0

Zerjav Tansek M, Groselj U, Angelkova N, Anton D, Barić I, Đorđević M, Grimci L, Ivanova M, Kadam A, Kotori V, Maksić H, Marginean O, Margineanu O, Miljanović O, Moldovanu F, Muresan M, Nanu M, Samardzić M, Sarnavka V, Savov A, Stojiljković M, Suzić B, Tincheva R, Tahirović H, Toromanović A, Usurelu N, Battelino T. Phenylketonuria screening and management in southeastern Europe - survey results from 11 countries. in Orphanet Journal of Rare Diseases. 2015;10.
doi:10.1186/s13023-015-0283-0 .

Zerjav Tansek, Mojca, Groselj, Urh, Angelkova, Natalija, Anton, Dana, Barić, Ivo, Đorđević, Maja, Grimci, Lindita, Ivanova, Maria, Kadam, Adil, Kotori, Vjosa, Maksić, Hajrija, Marginean, Oana, Margineanu, Otilia, Miljanović, Olivera, Moldovanu, Florentina, Muresan, Mariana, Nanu, Michaela, Samardzić, Mira, Sarnavka, Vladimir, Savov, Aleksei, Stojiljković, Maja, Suzić, Biljana, Tincheva, Radka, Tahirović, Husref, Toromanović, Alma, Usurelu, Natalia, Battelino, Tadej, "Phenylketonuria screening and management in southeastern Europe - survey results from 11 countries" in Orphanet Journal of Rare Diseases, 10 (2015),
https://doi.org/10.1186/s13023-015-0283-0 . .