Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency. - Jurecka A; Zikanova M; Tylki-Szymanska A; Krijt J; Bogdanska A; Gradowska W; Mullerova K; Sykut-Cegielska J; Kmoch S; Pronicka E (Molecular genetics and metabolism, 2008)