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Neu-Laxova Syndrome Is a Heterogeneous Metabolic Disorder Caused by Defects in Enzymes of the L-Serine Biosynthesis Pathway
Authors:Rocio Acuna-Hidalgo  Denny Schanze  Ariana Kariminejad  Ann Nordgren  Mohamad Hasan Kariminejad  Peter Conner  Giedre Grigelioniene  Daniel Nilsson  Magnus Nordenskjöld  Anna Wedell  Christoph Freyer  Anna Wredenberg  Dagmar Wieczorek  Gabriele Gillessen-Kaesbach  Hülya Kayserili  Nursel Elcioglu  Siavash Ghaderi-Sohi  Payman Goodarzi  Hamidreza Setayesh  Maartje van de Vorst  Marloes Steehouwer  Rolph Pfundt  Birgit Krabichler  Cynthia Curry  Malcolm G MacKenzie  Kym M Boycott  Christian Gilissen  Andreas R Janecke  Alexander Hoischen  Martin Zenker
Institution:1 Department of Human Genetics, Radboud Institute of Molecular Life Sciences, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands;2 Institute of Human Genetics, University Hospital Magdeburg, 39120 Magdeburg, Germany;3 Kariminejad-Najmabadi Pathology and Genetics Center, Tehran 14667, Iran;4 Department of Molecular Medicine and Surgery, Karolinska Institutet, 17176 Stockholm, Sweden;5 Department of Clinical Genetics, Karolinska University Hospital, 17176 Stockholm, Sweden;6 Center for Fetal Medicine, Department of Obstetrics and Gynecology, Karolinska University Hospital, 17176 Stockholm, Sweden;7 Centre for Inherited Metabolic Diseases, Karolinska University Hospital, 17176 Stockholm, Sweden;8 Department of Laboratory Medicine, Karolinska Institutet, 17176 Stockholm, Sweden;9 Institut für Humangenetik, Universitätsklinikum Essen, 45122 Essen, Germany;10 Institut für Humangenetik, Universität zu Lübeck, 23562 Lübeck, Germany;11 Medical Genetics Department, Istanbul Medical Faculty, Istanbul University, 34093 Istanbul, Turkey;12 Pediatrics Genetics Division, Pediatrics Department, Marmara University Medical Faculty, 34668 Istanbul, Turkey;13 Division of Human Genetics, Innsbruck Medical University, 6020 Innsbruck, Austria;14 Department of Pediatrics, University of California, San Francisco, Fresno, CA 93701, USA;15 Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H8L1, Canada;16 Department of Pediatrics I, Innsbruck Medical University, 6020 Innsbruck, Austria
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