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Pitfalls of X-chromosome inactivation testing in females with Fabry disease.
Reboun, Martin; Sikora, Jakub; Magner, Martin; Wiederlechnerová, Helena; Cerná, Alena; Poupetová, Helena; Storkánova, Gabriela; Musálková, Dita; Dostálová, Gabriela; Golán, Lubor; Linhart, Ales; Dvoráková, Lenka.
Afiliação
  • Reboun M; Diagnostic laboratories of IMD, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.
  • Sikora J; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.
  • Magner M; Institute of Pathology, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.
  • Wiederlechnerová H; Diagnostic laboratories of IMD, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.
  • Cerná A; Department of Pediatrics, Thomayer University Hospital and First Faculty of Medicine, Charles University, Prague, Czech Republic.
  • Poupetová H; Diagnostic laboratories of IMD, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.
  • Storkánova G; Diagnostic laboratories of IMD, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.
  • Musálková D; Diagnostic laboratories of IMD, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.
  • Dostálová G; Diagnostic laboratories of IMD, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.
  • Golán L; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.
  • Linhart A; Second Department of Internal Cardiovascular Medicine, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.
  • Dvoráková L; Second Department of Internal Cardiovascular Medicine, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.
Am J Med Genet A ; 188(7): 1979-1989, 2022 07.
Article em En | MEDLINE | ID: mdl-35338595
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Fabry Tipo de estudo: Clinical_trials / Diagnostic_studies / Prognostic_studies Limite: Female / Humans Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: República Tcheca País de publicação: Estados Unidos
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Fabry Tipo de estudo: Clinical_trials / Diagnostic_studies / Prognostic_studies Limite: Female / Humans Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: República Tcheca País de publicação: Estados Unidos