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.

Restless legs syndrome in DNAJC12 deficiency.

Autor: Porta, Francesco¹ (AUTHOR) francesco.porta@unito.it, Neirotti, Alessandro¹ (AUTHOR), Spada, Marco¹ (AUTHOR)

Publikováno v: Neurological Sciences. Jun2023, Vol. 44 Issue 6, p2167-2172. 6p. 1 Diagram, 1 Chart, 1 Graph.

Scientific Opinion on Dietary Reference Values for cobalamin (vitamin B12).

Publikováno v: EFSA Journal. Jul2015, Vol. 13 Issue 7, p4150-4150. 64p.

Utility and limitations of biochemical markers of vitamin B12 deficiency.

Autor: Herrmann, Wolfgang¹, Obeid, Rima¹

Publikováno v: European Journal of Clinical Investigation. Mar2013, Vol. 43 Issue 3, p231-237. 7p. 2 Charts, 3 Graphs.

Failure of the holotranscobalamin assay in vitamin B12-deficient patients.

Autor: Knoepfel, Christiane, Michel Blanco, Martine, Nydegger, Urs, Risch, Lorenz, Renz, Harald, Risch, Martin

Publikováno v: Journal of Laboratory Medicine; Aug2018, Vol. 42 Issue 4, p141-147, 7p