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المؤلفون: Semino F; Division of Pediatric Epileptology, Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Institute for Physiology and Pathophysiology, University of Heidelberg, Heidelberg, Germany., Schröter J; Division of Pediatric Epileptology, Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Willemsen MH; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Bast T; Epilepsy Center Kork, Kehl, Germany.; Medical Faculty of the University of Freiburg, Kehl, Germany., Biskup S; Praxis für Humangenetik Tübingen, Tuebingen, Germany.; CEGAT GmbH, Tuebingen, Germany., Beck-Woedl S; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Brennenstuhl H; Division of Neuropediatrics and Inherited Metabolic Diseases, Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Schaaf CP; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany., Kölker S; Division of Neuropediatrics and Inherited Metabolic Diseases, Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Hoffmann GF; Division of Neuropediatrics and Inherited Metabolic Diseases, Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Center for Rare Diseases, University of Tübingen, Tübingen, Germany., Syrbe S; Division of Pediatric Epileptology, Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.

المصدر: Human mutation [Hum Mutat] 2021 Sep; Vol. 42 (9), pp. 1094-1100. Date of Electronic Publication: 2021 Jul 05.

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

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

مواضيع طبية MeSH: Autism Spectrum Disorder*/genetics , Epilepsy*/complications , Epilepsy*/genetics , Intellectual Disability*/genetics , Neurodevelopmental Disorders*/genetics, Haploinsufficiency ; Heterogeneous-Nuclear Ribonucleoproteins/genetics ; Humans

المؤلفون: Zielonka M; Division of Pediatric Neurology and Metabolic Medicine, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Heidelberg Research Center for Molecular Medicine (HRCMM), Heidelberg, Germany., Garbade SF; Division of Pediatric Neurology and Metabolic Medicine, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Gleich F; Division of Pediatric Neurology and Metabolic Medicine, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Okun JG; Division of Pediatric Neurology and Metabolic Medicine, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Nagamani SCS; Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, Texas., Gropman AL; Division of Neurodevelopmental Pediatrics and Neurogenetics, Children's National Health System and The George Washington School of Medicine, Washington, District of Columbia., Hoffmann GF; Division of Pediatric Neurology and Metabolic Medicine, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Kölker S; Division of Pediatric Neurology and Metabolic Medicine, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Posset R; Division of Pediatric Neurology and Metabolic Medicine, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.

مؤلفون مشاركون: Urea Cycle Disorders Consortium (UCDC) and the European registry and network for Intoxication type Metabolic Diseases (E-IMD) Consortia Study Group

المصدر: Human mutation [Hum Mutat] 2020 May; Vol. 41 (5), pp. 946-960. Date of Electronic Publication: 2020 Jan 30.

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

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Association Studies*/methods , Genetic Predisposition to Disease* , Genotype* , Phenotype*, Argininosuccinic Aciduria/*diagnosis , Argininosuccinic Aciduria/*genetics, Adolescent ; Adult ; Argininosuccinate Lyase/blood ; Argininosuccinate Lyase/genetics ; Argininosuccinate Lyase/metabolism ; Argininosuccinic Aciduria/metabolism ; Biomarkers ; Child ; Child, Preschool ; Enzyme Activation ; Female ; Gene Expression ; Humans ; Kidney/metabolism ; Liver/metabolism ; Male ; Middle Aged ; Mutation ; RNA, Messenger/genetics ; Severity of Illness Index ; Young Adult

المؤلفون: Posset R; Center for Pediatric and Adolescent Medicine, Division of Pediatric Neurology and Metabolic Medicine, University Hospital Heidelberg, Heidelberg, Germany., Gropman AL; Children's National Health System and George Washington School of Medicine, Washington, DC., Nagamani SCS; Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX., Burrage LC; Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX., Bedoyan JK; Center for Human Genetics and Department of Genetics and Genome Sciences, University Hospitals Cleveland Medical Center and Case Western Reserve University, Cleveland, OH., Wong D; David Geffen School of Medicine at University of California, Los Angeles, Los Angeles, CA., Berry GT; Harvard Medical School and Boston Children's Hospital, Boston, MA., Baumgartner MR; University Children's Hospital Zurich and Children's Research Center, Zurich, Switzerland., Yudkoff M; University of Pennsylvania School of Medicine and Children's Hospital of Philadelphia, Philadelphia, PA., Zielonka M; Center for Pediatric and Adolescent Medicine, Division of Pediatric Neurology and Metabolic Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Heidelberg Research Center for Molecular Medicine, Heidelberg, Germany., Hoffmann GF; Center for Pediatric and Adolescent Medicine, Division of Pediatric Neurology and Metabolic Medicine, University Hospital Heidelberg, Heidelberg, Germany., Burgard P; Center for Pediatric and Adolescent Medicine, Division of Pediatric Neurology and Metabolic Medicine, University Hospital Heidelberg, Heidelberg, Germany., Schulze A; Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada., McCandless SE; Children's Hospital Colorado and University of Colorado, School of Medicine, Aurora, CO., Garcia-Cazorla A; Hospital San Joan de Deu, Institut Pediàtric de Recerca. Servicio de Neurologia and CIBERER, ISCIII, Barcelona, Spain., Seminara J; Children's National Health System and George Washington School of Medicine, Washington, DC., Garbade SF; Center for Pediatric and Adolescent Medicine, Division of Pediatric Neurology and Metabolic Medicine, University Hospital Heidelberg, Heidelberg, Germany., Kölker S; Center for Pediatric and Adolescent Medicine, Division of Pediatric Neurology and Metabolic Medicine, University Hospital Heidelberg, Heidelberg, Germany.

مؤلفون مشاركون: Urea Cycle Disorders Consortium and the European Registry and Network for Intoxication Type Metabolic Diseases Consortia Study Group

المصدر: Annals of neurology [Ann Neurol] 2019 Jul; Vol. 86 (1), pp. 116-128. Date of Electronic Publication: 2019 May 13.

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

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7707449 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8249 (Electronic) Linking ISSN: 03645134 NLM ISO Abbreviation: Ann Neurol Subsets: MEDLINE

مواضيع طبية MeSH: Mental Status and Dementia Tests*, Cognition/*physiology , Urea Cycle Disorders, Inborn/*diagnosis , Urea Cycle Disorders, Inborn/*therapy, Adolescent ; Adult ; Child ; Child, Preschool ; Cross-Sectional Studies ; Female ; Follow-Up Studies ; Glycerol/analogs & derivatives ; Glycerol/pharmacology ; Glycerol/therapeutic use ; Humans ; Infant ; Infant, Newborn ; Liver Transplantation/methods ; Male ; Neonatal Screening/methods ; Phenylbutyrates/pharmacology ; Phenylbutyrates/therapeutic use ; Prospective Studies ; Urea Cycle Disorders, Inborn/psychology ; Young Adult

المؤلفون: Boy N; Division of Child Neurology and Metabolic Medicine, Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Mengler K; Division of Child Neurology and Metabolic Medicine, Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Thimm E; Division of Experimental Pediatrics and Metabolism, Department of General Pediatrics, Neonatology, and Pediatric Cardiology, University Children's Hospital, Heinrich Heine University Düsseldorf, Düsseldorf, Germany., Schiergens KA; Dr von Hauner Children's Hospital, Ludwig Maximilian University, Munich, Germany., Marquardt T; Department of General Pediatrics, Metabolic Diseases, University Children's Hospital Münster, Münster, Germany., Weinhold N; Charité-Universitätsmedizin Berlin, Corporate Member of Free University Berlin, Free University of Berlin, Humboldt University of Berlin, and Berlin Institute of Health, Center for Chronically Sick Children, Berlin, Germany., Marquardt I; Department of Child Neurology, Children's Hospital Oldenburg, Oldenburg, Germany., Das AM; Department of Pediatrics, Pediatric Metabolic Medicine, Hannover Medical School, Hannover, Germany., Freisinger P; Children's Hospital Reutlingen, Reutlingen, Germany., Grünert SC; Department of General Pediatrics, Adolescent Medicine, and Neonatology, Faculty of Medicine, Medical Center, University of Freiburg, Freiburg, Germany., Vossbeck J; Department of Pediatric and Adolescent Medicine, Ulm University Medical School, Ulm, Germany., Steinfeld R; Department of Pediatrics and Pediatric Neurology, University Medical Center, Göttingen, Germany., Baumgartner MR; Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, Zurich, Switzerland., Beblo S; Department of Women and Child Health, Hospital for Children and Adolescents, Center for Pediatric Research Leipzig, University Hospitals, University of Leipzig, Leipzig, Germany., Dieckmann A; Center for Inborn Metabolic Disorders, Department of Neuropediatrics, Jena University Hospital, Jena, Germany., Näke A; Children's Hospital Carl Gustav Carus, Technical University Dresden, Dresden, Germany., Lindner M; Division of Pediatric Neurology, University Children's Hospital Frankfurt, Frankfurt, Germany., Heringer J; Division of Child Neurology and Metabolic Medicine, Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Hoffmann GF; Division of Child Neurology and Metabolic Medicine, Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Mühlhausen C; University Children's Hospital, University Medical Centre Hamburg-Eppendorf, Hamburg, Germany., Maier EM; Dr von Hauner Children's Hospital, Ludwig Maximilian University, Munich, Germany., Ensenauer R; Division of Experimental Pediatrics and Metabolism, Department of General Pediatrics, Neonatology, and Pediatric Cardiology, University Children's Hospital, Heinrich Heine University Düsseldorf, Düsseldorf, Germany., Garbade SF; Division of Child Neurology and Metabolic Medicine, Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Kölker S; Division of Child Neurology and Metabolic Medicine, Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.

المصدر: Annals of neurology [Ann Neurol] 2018 May; Vol. 83 (5), pp. 970-979. Date of Electronic Publication: 2018 Apr 30.

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

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7707449 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8249 (Electronic) Linking ISSN: 03645134 NLM ISO Abbreviation: Ann Neurol

مواضيع طبية MeSH: Early Diagnosis* , Neonatal Screening*/methods, Amino Acid Metabolism, Inborn Errors/*therapy , Brain Diseases, Metabolic/*therapy , Glutaryl-CoA Dehydrogenase/*deficiency, Child ; Child, Preschool ; Female ; Germany ; Glutaryl-CoA Dehydrogenase/analysis ; Humans ; Infant, Newborn ; Male ; Phenotype ; Prospective Studies

SCR Disease Name: Glutaric Acidemia I

المؤلفون: Kölker S; Division of Metabolic and Endocrine Diseases, University Children's Hospital, Heidelberg, Germany. stefan_koelker@med.uni-heidelberg.de, Koeller DM, Okun JG, Hoffmann GF

المصدر: Annals of neurology [Ann Neurol] 2004 Jan; Vol. 55 (1), pp. 7-12.

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

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7707449 Publication Model: Print Cited Medium: Print ISSN: 0364-5134 (Print) Linking ISSN: 03645134 NLM ISO Abbreviation: Ann Neurol Subsets: MEDLINE

مواضيع طبية MeSH: Amino Acid Metabolism, Inborn Errors/*physiopathology , Brain Diseases, Metabolic, Inborn/*physiopathology , Nerve Degeneration/*physiopathology , Oxidoreductases Acting on CH-CH Group Donors/*deficiency, Amino Acid Metabolism, Inborn Errors/pathology ; Animals ; Brain Diseases, Metabolic, Inborn/pathology ; Child, Preschool ; Glutarates/metabolism ; Glutaryl-CoA Dehydrogenase ; Humans ; Infant ; Models, Neurological ; Nerve Degeneration/pathology