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Clinical, radiological, and genetic characteristics of 16 patients with ACO2 gene defects: Delineation of an emerging neurometabolic syndrome.
Sharkia, Rajech; Wierenga, Klaas J; Kessel, Amit; Azem, Abdussalam; Bertini, Enrico; Carrozzo, Rosalba; Torraco, Alessandra; Goffrini, Paola; Ceccatelli Berti, Camilla; McCormick, M Eileen; Plecko, Barbara; Klein, Andrea; Abela, Lucia; Hengel, Holger; Schöls, Ludger; Shalev, Stavit; Khayat, Morad; Mahajnah, Muhammad; Spiegel, Ronen.
Affiliation
  • Sharkia R; Unit of Human Biology and Genetics, The Triangle Regional Research and Development Center, Kafr Qari, Israel.
  • Wierenga KJ; Unit of Nature Science, Beit-Berl Academic College, Beit-Berl, Israel.
  • Kessel A; Department of Pediatrics, Oklahoma University Health Sciences Center, Oklahoma City, OK 73104, USA.
  • Azem A; Department of Biochemistry and Molecular Biology, Faculty of Life Sciences, Tel-Aviv University, Tel-Aviv, Israel.
  • Bertini E; Department of Biochemistry and Molecular Biology, Faculty of Life Sciences, Tel-Aviv University, Tel-Aviv, Israel.
  • Carrozzo R; Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesu' Children's Research Hospital, Rome, Italy.
  • Torraco A; Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesu' Children's Research Hospital, Rome, Italy.
  • Goffrini P; Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesu' Children's Research Hospital, Rome, Italy.
  • Ceccatelli Berti C; Department of Chemistry, Life Sciences and Environmental Sustainability, University of Parma, Parma, Italy.
  • McCormick ME; Department of Chemistry, Life Sciences and Environmental Sustainability, University of Parma, Parma, Italy.
  • Plecko B; Department of Pediatrics, Oakland University William Beaumont School of Medicine, Rochester, Michigan.
  • Klein A; Division of Child Neurology, University Children's Hospital Zurich, Zurich, Switzerland.
  • Abela L; Department of Pediatrics, Medical University of Graz, Graz, Austria.
  • Hengel H; Department of Pediatric Neurology, University Children's Hospital Basel and University Children's Hospital, Bern, Switzerland.
  • Schöls L; Molecular Neurosciences, Developmental Neuroscience, UCL Institute of Child Health, London, UK.
  • Shalev S; German Research Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.
  • Khayat M; Department of Neurodegenerative Diseases and Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.
  • Mahajnah M; German Research Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.
  • Spiegel R; Department of Neurodegenerative Diseases and Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.
J Inherit Metab Dis ; 42(2): 264-275, 2019 03.
Article in En | MEDLINE | ID: mdl-30689204
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Aconitate Hydratase / Optic Atrophy / Neurodegenerative Diseases / Retinal Dystrophies Type of study: Clinical_trials / Prognostic_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Language: En Journal: J Inherit Metab Dis Year: 2019 Type: Article Affiliation country: Israel
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Aconitate Hydratase / Optic Atrophy / Neurodegenerative Diseases / Retinal Dystrophies Type of study: Clinical_trials / Prognostic_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Language: En Journal: J Inherit Metab Dis Year: 2019 Type: Article Affiliation country: Israel