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3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients.
Grünert, Sarah Catharina; Schlatter, Sonja Marina; Schmitt, Robert Niklas; Gemperle-Britschgi, Corinne; Mrázová, Lenka; Balci, Mehmet Cihan; Bischof, Felix; Çoker, Mahmut; Das, Anibh M; Demirkol, Mübeccel; de Vries, Maaike; Gökçay, Gülden; Häberle, Johannes; Uçar, Sema Kalkan; Lotz-Havla, Amelie Sophia; Lücke, Thomas; Roland, Dominique; Rutsch, Frank; Santer, René; Schlune, Andrea; Staufner, Christian; Schwab, Karl Otfried; Mitchell, Grant A; Sass, Jörn Oliver.
Affiliation
  • Grünert SC; Department of General Pediatrics, Adolescent Medicine and Neonatology, Medical Center - University of Freiburg, Faculty of Medicine, Freiburg, Germany.
  • Schlatter SM; Department of General Pediatrics, Adolescent Medicine and Neonatology, Medical Center - University of Freiburg, Faculty of Medicine, Freiburg, Germany.
  • Schmitt RN; Department of General Pediatrics, Adolescent Medicine and Neonatology, Medical Center - University of Freiburg, Faculty of Medicine, Freiburg, Germany.
  • Gemperle-Britschgi C; Division of Clinical Chemistry & Biochemistry and Children's Research Center, University Children's Hospital, Zürich, Switzerland.
  • Mrázová L; Institute of Inherited Metabolic Disorders, Charles University in Prague - 1st Faculty of Medicine and General University Hospital in Prague, Prague, Czech Republic.
  • Balci MC; Division of Pediatric Nutrition and Metabolism, Department of Pediatrics, Istanbul Medical Faculty, Istanbul, Turkey.
  • Bischof F; Department of Neurology, University of Tübingen, Germany.
  • Çoker M; Division of Metabolism and Nutrition, Department of Pediatrics, Faculty of Medicine, Ege University, Izmir, Turkey.
  • Das AM; Department of Pediatrics, Hannover Medical School, Hannover, Germany.
  • Demirkol M; Division of Pediatric Nutrition and Metabolism, Department of Pediatrics, Istanbul Medical Faculty, Istanbul, Turkey.
  • de Vries M; Radboud University Medical Center, Nijmegen, The Netherlands.
  • Gökçay G; Division of Pediatric Nutrition and Metabolism, Department of Pediatrics, Istanbul Medical Faculty, Istanbul, Turkey.
  • Häberle J; Division of Metabolism and Children's Research Center, University Children's Hospital, Zürich, Switzerland.
  • Uçar SK; Division of Metabolism and Nutrition, Department of Pediatrics, Faculty of Medicine, Ege University, Izmir, Turkey.
  • Lotz-Havla AS; Department of Inborn Errors of Metabolism, Dr. von Hauner Children's Hospital, Ludwig-Maximilians University, Munich, Germany.
  • Lücke T; Department of Neuropediatrics, University Children's Hospital, Ruhr-University Bochum, Bochum, Germany.
  • Roland D; Inborn Errors of Metabolism Unit, Institute of Pathology and Genetics, Charleroi, Gosselies, Belgium.
  • Rutsch F; Department of General Pediatrics, Münster University Children's Hospital, Münster, Germany.
  • Santer R; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Schlune A; Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich Heine University, Düsseldorf, Germany.
  • Staufner C; Department of General Pediatrics, Division of Neuropediatrics and Pediatric Metabolic Medicine, University Hospital Heidelberg, Heidelberg, Germany.
  • Schwab KO; Department of General Pediatrics, Adolescent Medicine and Neonatology, Medical Center - University of Freiburg, Faculty of Medicine, Freiburg, Germany.
  • Mitchell GA; Centre de Recherche and Département de Pédiatrie, CHU Sainte-Justine, Université de Montréal, Montréal, Québec, Canada; Département de Biochimie, Université de Montréal, Montréal, Québec, Canada.
  • Sass JO; Department of General Pediatrics, Adolescent Medicine and Neonatology, Medical Center - University of Freiburg, Faculty of Medicine, Freiburg, Germany; Division of Clinical Chemistry & Biochemistry and Children's Research Center, University Children's Hospital, Zürich, Switzerland; Bioanalytics
Mol Genet Metab ; 121(3): 206-215, 2017 07.
Article in En | MEDLINE | ID: mdl-28583327
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Acetyl-CoA C-Acetyltransferase / Amino Acid Metabolism, Inborn Errors Type of study: Clinical_trials / Diagnostic_studies / Prognostic_studies / Screening_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Country/Region as subject: Asia / Europa Language: En Journal: Mol Genet Metab Journal subject: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Year: 2017 Document type: Article Affiliation country: Country of publication:
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Acetyl-CoA C-Acetyltransferase / Amino Acid Metabolism, Inborn Errors Type of study: Clinical_trials / Diagnostic_studies / Prognostic_studies / Screening_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Country/Region as subject: Asia / Europa Language: En Journal: Mol Genet Metab Journal subject: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Year: 2017 Document type: Article Affiliation country: Country of publication: