Meeting Abstract, 2024

X-linked creatine transporter deficiency (SLC6A8): An underdiagnosed disease in females with intellectual disability

EUROPEAN JOURNAL OF HUMAN GENETICS, ISSN 1018-4813, Volume 32, Pages 427-428,

Contributors

Nielsen, Malene Mejdahl [1] [2] Petersen, Esben Thade [3] [4] Fenger, Christina Duhring [5] [6] Orngreen, Mette Cathrine [1] [2] Siebner, Hartwig Roman [1] [4] Boer, Vincent Oltman [4] Povazan, M. [4] Lund, Allan [1] [2] Gronborg, Sabine 0000-0002-2113-9023 [1] [2] Hammer, Trine B. [1] [2] [6]

Affiliations

  1. [1] Copenhagen Univ Hosp Rigshosp, Dept Clin Genet, Copenhagen, Denmark
    2. [NORA names: KU University of Copenhagen; University; Denmark; Europe, EU; Nordic; OECD];
  2. [2] Copenhagen Univ Hosp Rigshosp, Dept Clin Genet, Copenhagen, Denmark
    3. [NORA names: Capital Region of Denmark; Hospital; Denmark; Europe, EU; Nordic; OECD];
  3. [3] Tech Univ Denmark, Sect Magnet Resonance, Dept Hlth Technol, Lyngby, Denmark
    4. [NORA names: DTU Technical University of Denmark; University; Denmark; Europe, EU; Nordic; OECD];
  4. [4] Copenhagen Univ Hosp Amager & Hvidovre, Danish Res Ctr Magnet Resonance, Ctr Funct & Diagnost Imaging & Res, Hvidovre, Denmark
    5. [NORA names: Capital Region of Denmark; Hospital; Denmark; Europe, EU; Nordic; OECD];
  5. [5] Amplexa Genet, Odense, Denmark
    6. [NORA names: Other Companies; Private Research; Denmark; Europe, EU; Nordic; OECD];

Data Provider: Clarivate

LINKS
-

Matching Records in NORA

  • No Matches Found

SUBJECTS
+

METRICS
+