Phosphomevalonate kinase deficiency expands the genetic spectrum of systemic autoinflammatory diseases.

Berner, Jakob; van de Wetering, Cheryl; Jimenez Heredia, Raul; Rashkova, Christina; Ferdinandusse, Sacha; Koster, Janet; Weiss, Johannes G; Frohne, Alexandra; Giuliani, Sarah; Waterham, Hans R; Castanon, Irinka; Brunner, Jürgen; Boztug, Kaan

Berner, Jakob; van de Wetering, Cheryl; Jimenez Heredia, Raul; Rashkova, Christina; Ferdinandusse, Sacha; Koster, Janet; Weiss, Johannes G; Frohne, Alexandra; Giuliani, Sarah; Waterham, Hans R; Castanon, Irinka; Brunner, Jürgen; Boztug, Kaan.

Afiliación

Berner J; St. Anna Children's Cancer Research Institute (CCRI), Vienna, Austria; St. Anna Children's Hospital, Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria; Department of Dermatolo
van de Wetering C; St. Anna Children's Cancer Research Institute (CCRI), Vienna, Austria; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.
Jimenez Heredia R; St. Anna Children's Cancer Research Institute (CCRI), Vienna, Austria; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria; Medical University of Vienna, Vienna, Austria.
Rashkova C; St. Anna Children's Cancer Research Institute (CCRI), Vienna, Austria; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria; Medical University of Vienna, Vienna, Austria.
Ferdinandusse S; Amsterdam UMC location University of Amsterdam, Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam Gastroenterology Endocrinology Metabolism, Meibergdreef 9, Amsterdam, the Netherlands.
Koster J; Amsterdam UMC location University of Amsterdam, Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam Gastroenterology Endocrinology Metabolism, Meibergdreef 9, Amsterdam, the Netherlands.
Weiss JG; Department of Pediatrics, Medical University Innsbruck, Innsbruck, Austria; Institute of Developmental Immunology, Medical University Innsbruck, Innsbruck, Austria.
Frohne A; St. Anna Children's Cancer Research Institute (CCRI), Vienna, Austria; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria.
Giuliani S; St. Anna Children's Cancer Research Institute (CCRI), Vienna, Austria; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria.
Waterham HR; Amsterdam UMC location University of Amsterdam, Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam Gastroenterology Endocrinology Metabolism, Meibergdreef 9, Amsterdam, the Netherlands.
Castanon I; St. Anna Children's Cancer Research Institute (CCRI), Vienna, Austria; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria.
Brunner J; Department of Pediatrics, Medical University Innsbruck, Innsbruck, Austria; Faculty of Medicine and Dentistry, Danube Private University, Krems, Austria.
Boztug K; St. Anna Children's Cancer Research Institute (CCRI), Vienna, Austria; St. Anna Children's Hospital, Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria; CeMM Research Center fo