Mutations causing biotinidase deficiency in children ascertained by newborn screening in Western Hungary
| Autor: | Ilona Milánkovics, Béla Csókay, Enikő Kámory, Ágnes Schuler, Csilla Somogyi, Flóra Fodor |
|---|---|
| Rok vydání: | 2007 |
| Předmět: |
Male
Pediatrics medicine.medical_specialty Genotype Endocrinology Diabetes and Metabolism Population Biochemistry Neonatal Screening Endocrinology Gene Frequency Genetics medicine Humans Mutation detection Biotinidase activity education Molecular Biology Alleles Germ-Line Mutation Biotinidase Deficiency Hungary Newborn screening education.field_of_study Biotinidase business.industry Biotinidase deficiency Incidence (epidemiology) Infant Newborn medicine.disease Mutation Female business |
| Zdroj: | Molecular Genetics and Metabolism. 90:345-348 |
| ISSN: | 1096-7192 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full Text from ScienceDirect