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Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway.
Acuna-Hidalgo, Rocio; Schanze, Denny; Kariminejad, Ariana; Nordgren, Ann; Kariminejad, Mohamad Hasan; Conner, Peter; Grigelioniene, Giedre; Nilsson, Daniel; Nordenskjöld, Magnus; Wedell, Anna; Freyer, Christoph; Wredenberg, Anna; Wieczorek, Dagmar; Gillessen-Kaesbach, Gabriele; Kayserili, Hülya; Elcioglu, Nursel; Ghaderi-Sohi, Siavash; Goodarzi, Payman; Setayesh, Hamidreza; van de Vorst, Maartje; Steehouwer, Marloes; Pfundt, Rolph; Krabichler, Birgit; Curry, Cynthia; MacKenzie, Malcolm G; Boycott, Kym M; Gilissen, Christian; Janecke, Andreas R; Hoischen, Alexander; Zenker, Martin.
Afiliación
  • Acuna-Hidalgo R; Department of Human Genetics, Radboud Institute of Molecular Life Sciences, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands.
  • Schanze D; Institute of Human Genetics, University Hospital Magdeburg, 39120 Magdeburg, Germany.
  • Kariminejad A; Kariminejad-Najmabadi Pathology and Genetics Center, Tehran 14667, Iran.
  • Nordgren A; Department of Molecular Medicine and Surgery, Karolinska Institutet, 17176 Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, 17176 Stockholm, Sweden.
  • Kariminejad MH; Kariminejad-Najmabadi Pathology and Genetics Center, Tehran 14667, Iran.
  • Conner P; Center for Fetal Medicine, Department of Obstetrics and Gynecology, Karolinska University Hospital, 17176 Stockholm, Sweden.
  • Grigelioniene G; Department of Molecular Medicine and Surgery, Karolinska Institutet, 17176 Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, 17176 Stockholm, Sweden.
  • Nilsson D; Department of Molecular Medicine and Surgery, Karolinska Institutet, 17176 Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, 17176 Stockholm, Sweden.
  • Nordenskjöld M; Department of Molecular Medicine and Surgery, Karolinska Institutet, 17176 Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, 17176 Stockholm, Sweden.
  • Wedell A; Department of Molecular Medicine and Surgery, Karolinska Institutet, 17176 Stockholm, Sweden; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, 17176 Stockholm, Sweden.
  • Freyer C; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, 17176 Stockholm, Sweden; Department of Laboratory Medicine, Karolinska Institutet, 17176 Stockholm, Sweden.
  • Wredenberg A; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, 17176 Stockholm, Sweden; Department of Laboratory Medicine, Karolinska Institutet, 17176 Stockholm, Sweden.
  • Wieczorek D; Institut für Humangenetik, Universitätsklinikum Essen, 45122 Essen, Germany.
  • Gillessen-Kaesbach G; Institut für Humangenetik, Universität zu Lübeck, 23562 Lübeck, Germany.
  • Kayserili H; Medical Genetics Department, Istanbul Medical Faculty, Istanbul University, 34093 Istanbul, Turkey.
  • Elcioglu N; Pediatrics Genetics Division, Pediatrics Department, Marmara University Medical Faculty, 34668 Istanbul, Turkey.
  • Ghaderi-Sohi S; Kariminejad-Najmabadi Pathology and Genetics Center, Tehran 14667, Iran.
  • Goodarzi P; Kariminejad-Najmabadi Pathology and Genetics Center, Tehran 14667, Iran.
  • Setayesh H; Kariminejad-Najmabadi Pathology and Genetics Center, Tehran 14667, Iran.
  • van de Vorst M; Department of Human Genetics, Radboud Institute of Molecular Life Sciences, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands.
  • Steehouwer M; Department of Human Genetics, Radboud Institute of Molecular Life Sciences, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands.
  • Pfundt R; Department of Human Genetics, Radboud Institute of Molecular Life Sciences, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands.
  • Krabichler B; Division of Human Genetics, Innsbruck Medical University, 6020 Innsbruck, Austria.
  • Curry C; Department of Pediatrics, University of California, San Francisco, Fresno, CA 93701, USA.
  • MacKenzie MG; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H8L1, Canada.
  • Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H8L1, Canada.
  • Gilissen C; Department of Human Genetics, Radboud Institute of Molecular Life Sciences, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands.
  • Janecke AR; Division of Human Genetics, Innsbruck Medical University, 6020 Innsbruck, Austria; Department of Pediatrics I, Innsbruck Medical University, 6020 Innsbruck, Austria. Electronic address: andreas.janecke@i-med.ac.at.
  • Hoischen A; Department of Human Genetics, Radboud Institute of Molecular Life Sciences, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands. Electronic address: alexander.hoischen@radboudumc.nl.
  • Zenker M; Institute of Human Genetics, University Hospital Magdeburg, 39120 Magdeburg, Germany.
Am J Hum Genet ; 95(3): 285-93, 2014 Sep 04.
Article en En | MEDLINE | ID: mdl-25152457
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Serina / Anomalías Múltiples / Encefalopatías / Deformidades Congénitas de las Extremidades / Monoéster Fosfórico Hidrolasas / Fosfoglicerato-Deshidrogenasa / Retardo del Crecimiento Fetal / Transaminasas / Ictiosis / Microcefalia Tipo de estudio: Prognostic_studies Límite: Female / Humans / Male Idioma: En Revista: Am J Hum Genet Año: 2014 Tipo del documento: Article País de afiliación: Países Bajos
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Serina / Anomalías Múltiples / Encefalopatías / Deformidades Congénitas de las Extremidades / Monoéster Fosfórico Hidrolasas / Fosfoglicerato-Deshidrogenasa / Retardo del Crecimiento Fetal / Transaminasas / Ictiosis / Microcefalia Tipo de estudio: Prognostic_studies Límite: Female / Humans / Male Idioma: En Revista: Am J Hum Genet Año: 2014 Tipo del documento: Article País de afiliación: Países Bajos