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. |
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| 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 |
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