Mevalonic Aciduria in a Child Featuring Hepatic Fibrosis and Novel Mevalonate Kinase Mutations

Autor: Y. Bujanover, Y. Anikster, Y. Berkun, N. Goldstein, M. Harel-Meir

Publikováno v: The Open Pediatric Medicine Journal. 3:45-47

Mevalonic aciduria (MVA) is an inborn error of isoprene biosynthesis caused by mevalonate kinase (MVK) gene mutations. Described below is a case of a Palestinian MVA patient suffering from prolonged fevers as well as from hepatic fibrosis - a rare fe

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https://doi.org/10.2174/1874309900903010045

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Anti-ribosomal-phosphoprotein autoantibodies penetrate to neuronal cells via neuronal growth associated protein, affecting neuronal cells in vitro.

Autor: Kivity S; The Zabludowicz Center for Autoimmune Diseases, affiliated to Sackler Faculty of Medicine, Tel-Aviv University, Israel., Shoenfeld Y; The Zabludowicz Center for Autoimmune Diseases, affiliated to Sackler Faculty of Medicine, Tel-Aviv University, Israel shoenfel@post.tau.ac.il., Arango MT; The Zabludowicz Center for Autoimmune Diseases, affiliated to Sackler Faculty of Medicine, Tel-Aviv University, Israel Doctoral Program in Biomedical Sciences, Universidad del Rosario, Bogota, Colombia., Cahill DJ; School of Medicine and Medical Sciences, Conway Institute of Biomedical and Biomolecular Research, University College Dublin, Belfield, Ireland., O'Kane SL; School of Medicine and Medical Sciences, Conway Institute of Biomedical and Biomolecular Research, University College Dublin, Belfield, Ireland., Zusev M; The Zabludowicz Center for Autoimmune Diseases, affiliated to Sackler Faculty of Medicine, Tel-Aviv University, Israel., Slutsky I; Department of Physiology and Pharmacology, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv., Harel-Meir M; The Zabludowicz Center for Autoimmune Diseases, affiliated to Sackler Faculty of Medicine, Tel-Aviv University, Israel., Chapman J; Department of Neurology, Sagol Neuroscience Center, Sheba Medical Center, Tel-Hashomer, Israel., Matthias T; AESKU.KIPP Institute, Mikroforum Ring, Wendelsheim, Germany., Blank M; The Zabludowicz Center for Autoimmune Diseases, affiliated to Sackler Faculty of Medicine, Tel-Aviv University, Israel.

Publikováno v: Rheumatology (Oxford, England) [Rheumatology (Oxford)] 2016 May 06. Date of Electronic Publication: 2016 May 06.