المؤلفون: Baresova V; Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague, General University Hospital in Prague, Ke Karlovu 2, 128 08 Praha 2, Czech Republic., Krijt M; Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague, General University Hospital in Prague, Ke Karlovu 2, 128 08 Praha 2, Czech Republic., Skopova V; Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague, General University Hospital in Prague, Ke Karlovu 2, 128 08 Praha 2, Czech Republic., Souckova O; Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague, General University Hospital in Prague, Ke Karlovu 2, 128 08 Praha 2, Czech Republic., Kmoch S; Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague, General University Hospital in Prague, Ke Karlovu 2, 128 08 Praha 2, Czech Republic., Zikanova M; Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague, General University Hospital in Prague, Ke Karlovu 2, 128 08 Praha 2, Czech Republic. Electronic address: mzika@lf1.cuni.cz.

المصدر: Molecular genetics and metabolism [Mol Genet Metab] 2016 Nov; Vol. 119 (3), pp. 270-277. Date of Electronic Publication: 2016 Aug 24.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: 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

مواضيع طبية MeSH: CRISPR-Cas Systems*, Multienzyme Complexes/*metabolism , Purines/*biosynthesis, Chromatography, Liquid ; HeLa Cells ; Humans ; Multienzyme Complexes/chemistry ; Multienzyme Complexes/genetics ; Mutation ; Purines/metabolism ; Substrate Specificity ; Tandem Mass Spectrometry

المؤلفون: Duval N; Eleanor Roosevelt Institute and Department of Biological Sciences, University of Denver, 2101 E. Wesley Ave., Denver, CO 80208, USA., Luhrs K; Eleanor Roosevelt Institute and Department of Biological Sciences, University of Denver, 2101 E. Wesley Ave., Denver, CO 80208, USA., Wilkinson TG 2nd; Eleanor Roosevelt Institute and Department of Biological Sciences, University of Denver, 2101 E. Wesley Ave., Denver, CO 80208, USA., Baresova V; Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Ke Karlovu 2, 120 00 Prague 2, Czech Republic., Skopova V; Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Ke Karlovu 2, 120 00 Prague 2, Czech Republic., Kmoch S; Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Ke Karlovu 2, 120 00 Prague 2, Czech Republic., Vacano GN; Eleanor Roosevelt Institute and Department of Biological Sciences, University of Denver, 2101 E. Wesley Ave., Denver, CO 80208, USA., Zikanova M; Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Ke Karlovu 2, 120 00 Prague 2, Czech Republic., Patterson D; Eleanor Roosevelt Institute and Department of Biological Sciences, University of Denver, 2101 E. Wesley Ave., Denver, CO 80208, USA.

المصدر: Molecular genetics and metabolism [Mol Genet Metab] 2013 Mar; Vol. 108 (3), pp. 178-189. Date of Electronic Publication: 2013 Jan 12.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: 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

مواضيع طبية MeSH: Metabolomics* , Mutation*, Carboxy-Lyases/*genetics , Peptide Synthases/*genetics , Purines/*biosynthesis, Animals ; Base Sequence ; CHO Cells ; Carboxy-Lyases/metabolism ; Chromatography, High Pressure Liquid ; Cricetinae ; Cricetulus ; Electrochemical Techniques ; Models, Biological ; Models, Molecular ; Molecular Sequence Data ; Peptide Synthases/metabolism ; Purine-Pyrimidine Metabolism, Inborn Errors/genetics ; Purine-Pyrimidine Metabolism, Inborn Errors/metabolism ; Sequence Alignment

المؤلفون: Vliet LK; Eleanor Roosevelt Institute and Department of Biological Sciences, University of Denver, 2101 E. Wesley Avenue, Denver, CO 80208, USA., Wilkinson TG 2nd, Duval N, Vacano G, Graham C, Zikánová M, Skopova V, Baresova V, Hnízda A, Kmoch S, Patterson D

المصدر: Molecular genetics and metabolism [Mol Genet Metab] 2011 Jan; Vol. 102 (1), pp. 61-8. Date of Electronic Publication: 2010 Sep 06.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: 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

مواضيع طبية MeSH: Mutation, Missense*, Adenylosuccinate Lyase/*genetics, Adenylosuccinate Lyase/biosynthesis ; Adenylosuccinate Lyase/deficiency ; Amino Acid Substitution ; Animals ; Autistic Disorder ; CHO Cells ; Catalytic Domain ; Cricetinae ; Cricetulus ; Enzyme Assays ; Humans ; Mice ; Molecular Sequence Data ; Mutagenesis, Site-Directed ; Protein Structure, Quaternary ; Purine-Pyrimidine Metabolism, Inborn Errors/enzymology ; RNA, Messenger/chemistry ; Transcription, Genetic

SCR Disease Name: Adenylosuccinate lyase deficiency

المؤلفون: Zídková L; Laboratory for Inherited Metabolic Disorders, University Hospital and Medical Faculty, Palacký University, I.P. Pavlova 6, 775 20 Olomouc, Czech Republic., Krijt J, Sládková J, Hlobilková A, Magner M, Zikánová M, Kmoch S, Friedecký D, Zeman J, Elleder M, Adam T

المصدر: Molecular genetics and metabolism [Mol Genet Metab] 2010 Oct-Nov; Vol. 101 (2-3), pp. 286-8. Date of Electronic Publication: 2010 Jun 25.

نوع المنشور: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: 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

مواضيع طبية MeSH: Adenosine Monophosphate/*analogs & derivatives , Adenylosuccinate Lyase/*deficiency , Aminoimidazole Carboxamide/*analogs & derivatives , Oligodendroglia/*metabolism , Ribonucleosides/*biosynthesis, Adenosine Monophosphate/biosynthesis ; Fatal Outcome ; Humans ; Infant, Newborn ; Male

المؤلفون: 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.

المصدر: Molecular genetics and metabolism [Mol Genet Metab] 2008 Aug; Vol. 94 (4), pp. 435-442. Date of Electronic Publication: 2008 Jun 03.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: 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

مواضيع طبية MeSH: Mutation, Missense*, Adenylosuccinate Lyase/*deficiency , Purine-Pyrimidine Metabolism, Inborn Errors/*enzymology, Adenylosuccinate Lyase/genetics ; Adenylosuccinate Lyase/urine ; Adolescent ; Child ; Child, Preschool ; DNA Mutational Analysis ; Female ; Gene Expression ; Humans ; Male ; Phenotype ; Poland ; Purine-Pyrimidine Metabolism, Inborn Errors/genetics