Newborn screening in southeastern Europe

被引：39

作者：

Groselj, Urh ^{[1
]}

Tansek, Mojca Zerjav ^{[1
]}

Smon, Andraz ^{[1
]}

Angelkova, Natalija ^{[2
]}

Anton, Dana ^{[3
]}

Baric, Ivo ^{[4
,22
]}

Djordjevic, Maja ^{[5
]}

Grimci, Lindita ^{[6
]}

Ivanova, Maria ^{[7
]}

Kadam, Adil ^{[8
]}

Kotori, Vjosa Mulliqi ^{[9
]}

Maksic, Hajrija ^{[10
]}

Marginean, Oana ^{[11
]}

Margineanu, Otilia ^{[12
]}

Milijanovic, Olivera ^{[15
]}

Moldovanu, Florentina ^{[13
]}

Muresan, Mariana ^{[14
]}

Murko, Simona ^{[1
]}

Nanu, Michaela ^{[13
]}

Lampret, Barbka Repic ^{[1
]}

Samardzic, Mira ^{[15
]}

Sarnavka, Vladimir ^{[4
]}

Savov, Aleksei ^{[7
]}

Stojiljkovic, Maja ^{[16
]}

Suzic, Biljana ^{[17
]}

Tincheva, Radka ^{[8
]}

Tahirovic, Husref ^{[18
]}

Toromanovic, Alma ^{[19
]}

Usurelu, Natalia ^{[20
]}

Battelino, Tadej ^{[1
,21
]}

机构：

[1] UMC Ljubljana, Univ Childrens Hosp Ljubljana, Ljubljana, Slovenia

[2] Univ Childrens Hosp Skopje, Skopje, Macedonia

[3] Clin Hosp Children Sfanta Maria, Iasi, Romania

[4] Univ Hosp Ctr Zagreb, Dept Pediat, Zagreb, Croatia

[5] Mother & Child Hlth Care Inst Serbia, Belgrade, Serbia

[6] Univ Hosp, Ctr Mother Teresa, Tirana, Albania

[7] Natl Genet Lab, Sofia, Bulgaria

[8] Univ Pediat Hosp Sofia, Sofia, Bulgaria

[9] Univ Clin Ctr Pristina, Pediat Clin, Pristina, Kosovo

[10] Univ Clin Ctr Sarajevo, Sarajevo, Bosnia & Herceg

[11] Clin Hosp Targu Mures, Targu Mures, Romania

[12] Clin Hosp Children Luis Turcanu, Timisoara, Romania

[13] Mother & Child Hlth Care Inst Alfred Rusescu, Bucharest, Romania

[14] Clin Hosp Children Iuliu Hateganu, Cluj Napoca, Romania

[15] Inst Sick Children, Clin Ctr Montenegro, Podgorica, Montenegro

[16] Univ Belgrade, Inst Mol Genet & Genet Engn, Belgrade, Serbia

[17] Children Hosp Banja Luka, Banja Luka, Bosnia & Herceg

[18] Acad Sci & Arts Bosnia & Herzegovina, Dept Med Sci, Sarajevo, Bosnia & Herceg

[19] Univ Clin Ctr Tuzla, Dept Pediat, Tuzla, Bosnia & Herceg

[20] Inst Mother & Child Hlth, Ctr Reprod Hlth & Med Genet, Kishinev, Moldova

[21] Univ Ljubljana, Fac Med, Dept Pediat, Ljubljana, Slovenia

[22] Univ Zagreb, Sch Med, Zagreb 41001, Croatia

来源：

MOLECULAR GENETICS AND METABOLISM | 2014年 / 113卷 / 1-2期

关键词：

Newborn screening; Survey; Southeastern Europe; TANDEM MASS-SPECTROMETRY; COST-EFFECTIVENESS; PHENYLKETONURIA; PROGRAM;

D O I：

10.1016/j.ymgme.2014.07.020

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

The aim of our study was to assess the current state of newborn screening (NBS) in the region of southeastern Europe, as an example of a developing region, focusing also on future plans. Responses were obtained from 11 countries. Phenylketonuria screening was not introduced in four of 11 countries, while congenital hypothyroidism screening was not introduced in three of them; extended NBS programs were non-existent. The primary challenges were identified. Implementation of NBS to developing countries worldwide should be considered as a priority. (C) 2014 Elsevier Inc. All rights reserved.

引用

页码：42 / 45

页数：4

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