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

van Spronsen, Francjan J; Himmelreich, Nastassja; Rüfenacht, Véronique; Shen, Nan; Vliet, Danique van; Al-Owain, Mohammed; Ramzan, Khushnooda; Alkhalifi, Salwa M; Lunsing, Roelineke J; Heiner-Fokkema, Rebecca M; Rassi, Anahita; Gemperle-Britschgi, Corinne; Hoffmann, Georg F; Blau, Nenad; Thöny, Beat

van Spronsen, Francjan J; Himmelreich, Nastassja; Rüfenacht, Véronique; Shen, Nan; Vliet, Danique van; Al-Owain, Mohammed; Ramzan, Khushnooda; Alkhalifi, Salwa M; Lunsing, Roelineke J; Heiner-Fokkema, Rebecca M; Rassi, Anahita; Gemperle-Britschgi, Corinne; Hoffmann, Georg F; Blau, Nenad; Thöny, Beat.

Afiliação

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.
Rüfenacht V; Division of Metabolism, University Children's Hospital Zurich, Zurich, Switzerland.
Shen N; Division of Metabolism, University Children's Hospital Zurich, Zurich, Switzerland.
Vliet DV; Dietmar-Hopp Metabolic Center, University Children's Hospital, Heidelberg, Germany.
Al-Owain M; Department of Rehabilitation Medicine, Xin Hua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Ramzan K; Beatrix Children's Hospital, University Medical Center, University of Groningen, Groningen, The Netherlands.
Alkhalifi SM; Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
Lunsing RJ; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
Heiner-Fokkema RM; Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
Rassi A; Department of Pediatrics, Maternity and Children Hospital, Dammam, Saudi Arabia.
Gemperle-Britschgi C; Department of Pediatric Neurology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
Hoffmann GF; Department of Laboratory Medicine, University Medical Center Groningen, Groningen, The Netherlands.
Blau N; Division of Clinical Chemistry and Biochemistry, University Children's Hospital Zurich, Zurich, Switzerland.
Thöny B; Division of Metabolism, University Children's Hospital Zurich, Zurich, Switzerland.