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X-linked creatine transporter (SLC6A8) deficiency in females: Difficult to recognize, but a potentially treatable disease.
Mejdahl Nielsen, Malene; Petersen, Esben Thade; Fenger, Christina Dühring; Ørngreen, Mette Cathrine; Siebner, Hartwig Roman; Boer, Vincent Oltman; Povazan, Michal; Lund, Allan; Grønborg, Sabine Weller; Hammer, Trine Bjørg.
Afiliação
  • Mejdahl Nielsen M; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark. Electronic address: malene.mejdahl.nielsen.01@regionh.dk.
  • Petersen ET; Danish Research Centre for Magnetic Resonance, Centre for Functional and Diagnostic Imaging and Research, Copenhagen University Hospital Amager and Hvidovre, Hvidovre, Denmark; Section for Magnetic Resonance, Department of Health Technology, Technical University of Denmark, Kgs. Lyngby, Denmark.
  • Fenger CD; Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Denmark; Amplexa Genetics, Odense, Denmark.
  • Ørngreen MC; Center for Inherited Metabolic Diseases, Departments of Pediatrics and Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark; European Reference Network for Rare Hereditary Metabolic Disorders (MetabERN) - Project ID No 739543, Denmark.
  • Siebner HR; Danish Research Centre for Magnetic Resonance, Centre for Functional and Diagnostic Imaging and Research, Copenhagen University Hospital Amager and Hvidovre, Hvidovre, Denmark; Department of Neurology, Copenhagen University Hospital Bispebjerg and Frederiksberg, Copenhagen, Denmark; Department of Cl
  • Boer VO; Danish Research Centre for Magnetic Resonance, Centre for Functional and Diagnostic Imaging and Research, Copenhagen University Hospital Amager and Hvidovre, Hvidovre, Denmark.
  • Povazan M; Danish Research Centre for Magnetic Resonance, Centre for Functional and Diagnostic Imaging and Research, Copenhagen University Hospital Amager and Hvidovre, Hvidovre, Denmark.
  • Lund A; Center for Inherited Metabolic Diseases, Departments of Pediatrics and Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark; European Reference Network for Rare Hereditary Metabolic Diso
  • Grønborg SW; Center for Inherited Metabolic Diseases, Departments of Pediatrics and Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark; European Reference Network for Rare Hereditary Metabolic Disorders (MetabERN) - Project ID No 739543, Denmark.
  • Hammer TB; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark; Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Denmark.
Mol Genet Metab ; 140(3): 107694, 2023 11.
Article em En | MEDLINE | ID: mdl-37708665
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Encefalopatias Metabólicas Congênitas / Deficiência Intelectual Ligada ao Cromossomo X / Deficiência Intelectual Limite: Female / Humans / Male Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Encefalopatias Metabólicas Congênitas / Deficiência Intelectual Ligada ao Cromossomo X / Deficiência Intelectual Limite: Female / Humans / Male Idioma: En Ano de publicação: 2023 Tipo de documento: Article