Work

Detection of biotinidase gene mutations in Turkish patients ascertained by newborn and family screening

Year: 2015

Type: article

Study design: Observational Study

Source: European Journal of Pediatrics

DOI: 10.1007/s00431-015-2509-5

Authors: Mehmet Karaca, Rıza Köksal Özgül, Özlem Ünal, Didem Yücel-Yılmaz, Mustafa Kılıç, Burcu Hişmi, Ayşegül Tokatlı, Turgay Coşkun, Ali Dursun, Hatice Serap Sivri

Institutions: Aksaray University, Hacettepe University

Language: English

Topic: Metabolism and Genetic Disorders

Subfield: Clinical Biochemistry

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W2002018695

FWCI: 1.463

Cites: 49

Cited by: 38

Related to: 10