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Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency.

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Title: Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency.
Authors: Jurecka A; Department of Metabolic Diseases, Endocrinology and Diabetology, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland., Zikanova M; Institute for Inherited Metabolic Disorders, Ke Karlovu 2, Prague, Czech Republic., Tylki-Szymanska A; Department of Metabolic Diseases, Endocrinology and Diabetology, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland., Krijt J; Institute for Inherited Metabolic Disorders, Ke Karlovu 2, Prague, Czech Republic., Bogdanska A; Department of Laboratory Diagnostics, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland., Gradowska W; Department of Laboratory Diagnostics, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland., Mullerova K; Institute for Inherited Metabolic Disorders, Ke Karlovu 2, Prague, Czech Republic., Sykut-Cegielska J; Department of Metabolic Diseases, Endocrinology and Diabetology, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland., Kmoch S; Institute for Inherited Metabolic Disorders, Ke Karlovu 2, Prague, Czech Republic., Pronicka E; Department of Metabolic Diseases, Endocrinology and Diabetology, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.
Source: Molecular genetics and metabolism [Mol Genet Metab] 2008 Aug; Vol. 94 (4), pp. 435-442. Date of Electronic Publication: 2008 Jun 03.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1096-7206
DOI:10.1016/j.ymgme.2008.04.013