Mutations causing biotinidase deficiency in children ascertained by newborn screening in Western Hungary

被引：16
作者：
Milankovics, Ilona
Kamory, Eniko
Csokay, Bela
Fodor, Flora
Somogyi, Csilla
Schuler, Agnes
机构：
[1] Buda Childrens Hosp, Metab Screening Ctr, H-1023 Budapest, Hungary
[2] LabOrigo Diagnost Ltd, Budapest, Hungary
来源：
MOLECULAR GENETICS AND METABOLISM | 2007年 / 90卷 / 03期
关键词：
biotinidase deficiency; biotinidase activity; mutation detection; incidence; newborn screening; population genetics;
D O I：
10.1016/j.ymgme.2006.11.005
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
In Hungary the national newborn screening programme for the detection of biotinidase deficiency was launched in 1989. In this study, we determined the genotypes of all patients identified at the Budapest Screening Centre that covers half of the country. The incidence of the disorder in Western Hungary is about three times the worldwide incidence. Overall, 21 different mutations were identified in 49 patients, including four novel mutations. Ten mutations proved to be unique to the Hungarian population. (c) 2006 Elsevier Inc. All rights reserved.
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收藏
页码：345 / 348
页数：4
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