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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
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  Data: Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency.
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  Data: <searchLink fieldCode="AU" term="%22Jurecka+A%22">Jurecka A</searchLink>; Department of Metabolic Diseases, Endocrinology and Diabetology, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.<br /><searchLink fieldCode="AU" term="%22Zikanova+M%22">Zikanova M</searchLink>; Institute for Inherited Metabolic Disorders, Ke Karlovu 2, Prague, Czech Republic.<br /><searchLink fieldCode="AU" term="%22Tylki-Szymanska+A%22">Tylki-Szymanska A</searchLink>; Department of Metabolic Diseases, Endocrinology and Diabetology, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.<br /><searchLink fieldCode="AU" term="%22Krijt+J%22">Krijt J</searchLink>; Institute for Inherited Metabolic Disorders, Ke Karlovu 2, Prague, Czech Republic.<br /><searchLink fieldCode="AU" term="%22Bogdanska+A%22">Bogdanska A</searchLink>; Department of Laboratory Diagnostics, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.<br /><searchLink fieldCode="AU" term="%22Gradowska+W%22">Gradowska W</searchLink>; Department of Laboratory Diagnostics, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.<br /><searchLink fieldCode="AU" term="%22Mullerova+K%22">Mullerova K</searchLink>; Institute for Inherited Metabolic Disorders, Ke Karlovu 2, Prague, Czech Republic.<br /><searchLink fieldCode="AU" term="%22Sykut-Cegielska+J%22">Sykut-Cegielska J</searchLink>; Department of Metabolic Diseases, Endocrinology and Diabetology, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.<br /><searchLink fieldCode="AU" term="%22Kmoch+S%22">Kmoch S</searchLink>; Institute for Inherited Metabolic Disorders, Ke Karlovu 2, Prague, Czech Republic.<br /><searchLink fieldCode="AU" term="%22Pronicka+E%22">Pronicka E</searchLink>; Department of Metabolic Diseases, Endocrinology and Diabetology, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.
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  Data: <searchLink fieldCode="JN" term="%229805456%22">Molecular genetics and metabolism</searchLink> [Mol Genet Metab] 2008 Aug; Vol. 94 (4), pp. 435-442. <i>Date of Electronic Publication: </i>2008 Jun 03.
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  Data: Journal Article; Research Support, Non-U.S. Gov't
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Academic+Press%22">Academic Press </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>9805456 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1096-7206 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210967192%22">10967192 </searchLink><i>NLM ISO Abbreviation: </i>Mol Genet Metab <i>Subsets: </i>MEDLINE
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        Value: 10.1016/j.ymgme.2008.04.013
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      – Code: eng
        Text: English
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        StartPage: 435
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              M: 08
              Text: 2008 Aug
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