Identification of mutations causing 6-pyruvoyl-tetrahydrobiopterin synthase deficiency in polish patients with variant hyperphenylalaninemia*

Springer Science and Business Media LLC - Tập 3 - Trang 237-239 - 1998
Cezary Żekanowski1, Maria Nowacka2, Elżbieta Sendecka2, Małgorzata Słowik2, Barbara Cabalska2, Jerzy Bal1
1From the Department of Genetics, National Research Institute of Mother and Child, Kasprzaka 17a 01-211 Warszawa, Poland
2the Pediatric Clinic, National Research Institute of Mother and Child, Kasprzaka 17a 01-211 Warszawa, Poland