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  • Heterogeneous clinical spectrum of DNAJC12-deficient hyperphenylalaninemia: from attention deficit to severe dystonia and intellectual disability

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Biochemical genetics
Short Report
Heterogeneous clinical spectrum of DNAJC12-deficient hyperphenylalaninemia: from attention deficit to severe dystonia and intellectual disability

Authors

  • Francjan J van Spronsen Beatrix Children’s Hospital, University Medical Center, University of Groningen, Groningen, The Netherlands PubMed articlesGoogle scholar articles
  • Nastassja Himmelreich Dietmar-Hopp Metabolic Center, University Children’s Hospital, Heidelberg, Germany Division of Metabolism, University Children’s Hospital Zurich, Zurich, Switzerland PubMed articlesGoogle scholar articles
  • Véronique Rüfenacht Division of Metabolism, University Children’s Hospital Zurich, Zurich, Switzerland PubMed articlesGoogle scholar articles
  • Nan Shen Dietmar-Hopp Metabolic Center, University Children’s Hospital, Heidelberg, Germany Department of Rehabilitation Medicine, Xin Hua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China PubMed articlesGoogle scholar articles
  • Danique van Vliet Beatrix Children’s Hospital, University Medical Center, University of Groningen, Groningen, The Netherlands PubMed articlesGoogle scholar articles
  • Mohammed Al-Owain Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia PubMed articlesGoogle scholar articles
  • Khushnooda Ramzan Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia PubMed articlesGoogle scholar articles
  • Salwa M Alkhalifi Department of Pediatrics, Maternity and Children Hospital, Dammam, Saudi Arabia PubMed articlesGoogle scholar articles
  • Roelineke J Lunsing Department of Pediatric Neurology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands PubMed articlesGoogle scholar articles
  • Rebecca M Heiner-Fokkema Department of Laboratory Medicine, University Medical Center Groningen, Groningen, The Netherlands PubMed articlesGoogle scholar articles
  • Anahita Rassi Division of Clinical Chemistry and Biochemistry, University Children’s Hospital Zurich, Zurich, Switzerland PubMed articlesGoogle scholar articles
  • Corinne Gemperle-Britschgi Division of Metabolism, University Children’s Hospital Zurich, Zurich, Switzerland PubMed articlesGoogle scholar articles
  • Georg F Hoffmann Dietmar-Hopp Metabolic Center, University Children’s Hospital, Heidelberg, Germany PubMed articlesGoogle scholar articles
  • Nenad Blau Dietmar-Hopp Metabolic Center, University Children’s Hospital, Heidelberg, Germany PubMed articlesGoogle scholar articles
  • Beat Thöny Division of Metabolism, University Children’s Hospital Zurich, Zurich, Switzerland Division of Clinical Chemistry and Biochemistry, University Children’s Hospital Zurich, Zurich, Switzerland Children’s Research Centre (CRC), University Children’s Hospital Zürich, Zurich, Switzerland The Neuroscience Center Zurich (ZNZ), The Zurich Center for Integrative Human Physiology (ZIHP), University of Zurich, Zurich, Switzerland PubMed articlesGoogle scholar articles
  1. Correspondence to Nenad Blau, Dietmar-Hopp-Metabolic Center, University Children’s Hospital, Heidelberg, Germany; Nenad.Blau{at}med.uni-heidelberg.de and Beat Thöny, Division of Metabolism and Division of Clinical Chemistry and Biochemistry, University Children’s Hospital Zurich, Zürich CH-8032, Switzerland; beat.thony{at}kispi.uzh.ch
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Citation

van Spronsen FJ, Himmelreich N, Rüfenacht V, et al
Heterogeneous clinical spectrum of DNAJC12-deficient hyperphenylalaninemia: from attention deficit to severe dystonia and intellectual disability
Journal of Medical Genetics 2018;55:249-253.

Publication history

  • Received June 19, 2017
  • Revised July 5, 2017
  • Accepted July 6, 2017
  • First published August 9, 2017.
Online issue publication 
March 23, 2018

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