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

Autor: van Spronsen FJ; Beatrix Children's Hospital, University Medical Center, University of Groningen, Groningen, The Netherlands., Himmelreich N; Dietmar-Hopp Metabolic Center, University Children's Hospital, Heidelberg, Germany.; Division of Metabolism, University Children's Hospital Zurich, Zurich, Switzerland., Rüfenacht V; Division of Metabolism, University Children's Hospital Zurich, Zurich, Switzerland., Shen N; 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., Vliet DV; Beatrix Children's Hospital, University Medical Center, University of Groningen, Groningen, The Netherlands., Al-Owain M; 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., Ramzan K; Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia., Alkhalifi SM; Department of Pediatrics, Maternity and Children Hospital, Dammam, Saudi Arabia., Lunsing RJ; Department of Pediatric Neurology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands., Heiner-Fokkema RM; Department of Laboratory Medicine, University Medical Center Groningen, Groningen, The Netherlands., Rassi A; Division of Clinical Chemistry and Biochemistry, University Children's Hospital Zurich, Zurich, Switzerland., Gemperle-Britschgi C; Division of Metabolism, University Children's Hospital Zurich, Zurich, Switzerland., Hoffmann GF; Dietmar-Hopp Metabolic Center, University Children's Hospital, Heidelberg, Germany., Blau N; Dietmar-Hopp Metabolic Center, University Children's Hospital, Heidelberg, Germany., Thöny B; 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.

Publikováno v: Journal of medical genetics [J Med Genet] 2017 Aug 09. Date of Electronic Publication: 2017 Aug 09.