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    Wyświetlanie 1-2 z 2
    Tytuł:
    Imerslund-Gräsbeck syndrome: a comprehensive review of reported cases.
    Autorzy:
    Kingma SDK; Centre for Metabolic Diseases, University Hospital Antwerp, University of Antwerp, Drie Eikenstraat 655, Edegem, Antwerp, 2650, Belgium.; Department of Pediatrics, University Hospital Antwerp, University of Antwerp, Drie Eikenstraat 655, Edegem, 2650, Belgium.; Faculty of medicine and health sciences, University of Antwerp, Antwerp, Belgium.
    Neven J; Department of Pediatrics, University Hospital Antwerp, University of Antwerp, Drie Eikenstraat 655, Edegem, 2650, Belgium.
    Bael A; Faculty of medicine and health sciences, University of Antwerp, Antwerp, Belgium.; Department of Pediatric Nephrology, ZNA Queen Paola Children's Hospital, Lindendreef 1, Antwerp, 2020, Belgium.
    Meuwissen MEC; Center of Medical Genetics, University Hospital Antwerp, Drie Eikenstraat 655, Edegem, 2650, Belgium.
    van den Akker M; Department of Pediatrics, University Hospital Antwerp, University of Antwerp, Drie Eikenstraat 655, Edegem, 2650, Belgium. .; Faculty of medicine and health sciences, University of Antwerp, Antwerp, Belgium. .; Department of Pediatrics, ZNA Queen Paola Children's Hospital, Lindendreef 1, Antwerp, 2020, Belgium. .; Pediatric Hematology and Oncology, Department of Pediatrics, University Hospital Antwerp, Drie Eikenstraat 655, Edegem, Antwerp, 2650, Belgium. .
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    Źródło:
    Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Sep 14; Vol. 18 (1), pp. 291. Date of Electronic Publication: 2023 Sep 14.
    Typ publikacji:
    Journal Article; Review
    MeSH Terms:
    Vitamin B 12 Deficiency*
    Anemia, Megaloblastic*
    Humans ; Proteinuria ; Vitamin B 12/therapeutic use
    SCR Disease Name:
    Imerslund-Grasbeck syndrome
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Loss of USP18 in microglia induces white matter pathology.
    Autorzy:
    Schwabenland M; Institute of Neuropathology, Faculty of Medicine, University of Freiburg, Breisacher Str. 64, 79106, Freiburg, Germany.
    Mossad O; Institute of Neuropathology, Faculty of Medicine, University of Freiburg, Breisacher Str. 64, 79106, Freiburg, Germany.; Faculty of Biology, University of Freiburg, Freiburg, Germany.
    Peres AG; Institute of Neuropathology, Faculty of Medicine, University of Freiburg, Breisacher Str. 64, 79106, Freiburg, Germany.
    Kessler F; Institute of Neuropathology, Faculty of Medicine, University of Freiburg, Breisacher Str. 64, 79106, Freiburg, Germany.
    Maron FJM; Institute of Neuropathology, Faculty of Medicine, University of Freiburg, Breisacher Str. 64, 79106, Freiburg, Germany.
    Harsan LA; Department of Radiology, Medical Physics, University Medical Center Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; Engineering Science, Computer Science and Imaging Laboratory (ICube), Integrative Multimodal Imaging in Healthcare, CNRS, University of Strasbourg, Strasbourg, France.
    Bienert T; Department of Radiology, Medical Physics, University Medical Center Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
    von Elverfeldt D; Department of Radiology, Medical Physics, University Medical Center Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
    Knobeloch KP; Institute of Neuropathology, Faculty of Medicine, University of Freiburg, Breisacher Str. 64, 79106, Freiburg, Germany.
    Staszewski O; Institute of Neuropathology, Faculty of Medicine, University of Freiburg, Breisacher Str. 64, 79106, Freiburg, Germany.
    Heppner FL; Department of Neuropathology, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Charitéplatz 1 (Virchowweg 15), 10117, Berlin, Germany.; Cluster of Excellence, NeuroCure, Charitéplatz 1, 10117, Berlin, Germany.; German Center for Neurodegenerative Diseases (DZNE) Berlin, 10117, Berlin, Germany.
    Meuwissen MEC; Department of Clinical Genetics, Erasmus University Medical Center, 3015, GD, Rotterdam, the Netherlands.
    Mancini GMS; Department of Clinical Genetics, Erasmus University Medical Center, 3015, GD, Rotterdam, the Netherlands.
    Prinz M; Institute of Neuropathology, Faculty of Medicine, University of Freiburg, Breisacher Str. 64, 79106, Freiburg, Germany.; Signalling Research Centres BIOSS and CIBSS, University of Freiburg, Freiburg, Germany.; Center for NeuroModulation, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
    Blank T; Institute of Neuropathology, Faculty of Medicine, University of Freiburg, Breisacher Str. 64, 79106, Freiburg, Germany. .
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    Źródło:
    Acta neuropathologica communications [Acta Neuropathol Commun] 2019 Jul 04; Vol. 7 (1), pp. 106. Date of Electronic Publication: 2019 Jul 04.
    Typ publikacji:
    Letter; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Microglia/*metabolism
    Microglia/*pathology
    Ubiquitin Thiolesterase/*deficiency
    White Matter/*metabolism
    White Matter/*pathology
    Animals ; Humans ; Mice ; Mice, Knockout ; Mice, Transgenic ; Ubiquitin Thiolesterase/genetics
    Raport
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
      Wyświetlanie 1-2 z 2

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