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Comparison of the mutation spectrum and association with pre and post treatment lipid measures of children with heterozygous familial hypercholesterolaemia (FH) from eight European countries.
Futema, Marta; Ramaswami, Uma; Tichy, Lukas; Bogsrud, Martin P; Holven, Kirsten B; Roeters van Lennep, Jeanine; Wiegman, Albert; Descamps, Olivier S; De Leener, Anne; Fastre, Elodie; Vrablik, Michal; Freiberger, Tomas; Esterbauer, Harald; Dieplinger, Hans; Greber-Platzer, Susanne; Medeiros, Ana M; Bourbon, Mafalda; Mollaki, Vasiliki; Drogari, Euridiki; Humphries, Steve E.
Afiliação
  • Futema M; Centre for Heart Muscle Disease, Institute for Cardiovascular Science, University College London, London, United Kingdom.
  • Ramaswami U; Lysosomal Disorders Unit, Royal Free Hospital, London, United Kingdom.
  • Tichy L; Centre of Molecular Biology and Gene Therapy, University Hospital Brno, Brno, Czech Republic.
  • Bogsrud MP; National Advisory Unit on Familial Hypercholesterolemia, Department of Endocrinology, Morbid Obesity and Preventive Medicine, Oslo University Hospital, Oslo, Norway; Unit for Cardiac and Cardiovascular Genetics, Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.
  • Holven KB; Department of Nutrition, University of Oslo, Oslo, Norway.
  • Roeters van Lennep J; Departments of Cardiology and Internal Medicine, Erasmus Medical Center, Rotterdam, the Netherlands.
  • Wiegman A; Department of Pediatrics, Amsterdam University Medical Centers, Amsterdam, the Netherlands.
  • Descamps OS; Centres Hospitaliers Jolimont, Lipid Clinic, Haine-Saint-Paul, Belgium.
  • De Leener A; Centre de Génétique Humaine, UCL Cliniques Universitaires Saint-Luc, Bruxelles, Belgium.
  • Fastre E; Centre de Génétique Humaine, UCL Cliniques Universitaires Saint-Luc, Bruxelles, Belgium.
  • Vrablik M; Third Department of Internal Medicine, General University Hospital and First Faculty of Medicine, Charles University, U Nemocnice 1, Prague 2, 128 08, Czech Republic.
  • Freiberger T; Centre for Cardiovascular Surgery and Transplantation, Czech Republic, and Medical Faculty, Masaryk University, Pekarska 53, 656 91 Brno, Brno, Czech Republic.
  • Esterbauer H; Department of Laboratory Medicine, Medical University of Vienna, Vienna, Austria.
  • Dieplinger H; Institute of Genetic Epidemiology, Department of Genetics and Pharmacology, Medical University of Innsbruck, Schöpfstraße 41, 6020, Innsbruck, Austria.
  • Greber-Platzer S; Division of Pediatric Pulmonology, Allergology and Endocrinology, Department of Pediatrics and Adolescent Medicine, Comprehensive Center Pediatrics, Medical University Vienna, Austria.
  • Medeiros AM; Cardiovascular Research Group, Research and Development Unit, Department of Health Promotion and Chronic Diseases, National Institute of Health Doutor Ricardo Jorge, Lisbon, Portugal and University of Lisboa, Faculty of Sciences, BioISI - Biosystems & Integrative Sciences Institute, Lisboa, Port
  • Bourbon M; Cardiovascular Research Group, Research and Development Unit, Department of Health Promotion and Chronic Diseases, National Institute of Health Doutor Ricardo Jorge, Lisbon, Portugal and University of Lisboa, Faculty of Sciences, BioISI - Biosystems & Integrative Sciences Institute, Lisboa, Port
  • Mollaki V; First Department of Pediatrics, National and Kapodistrian University of Athens, Greece.
  • Drogari E; First Department of Pediatrics, National and Kapodistrian University of Athens and Department of Inborn Errors of Metabolism and Inherited Dyslipidemias, "MITERA" Children's Hospital, Athens, Greece.
  • Humphries SE; Centre for Cardiovascular Genetics, Institute for Cardiovascular Science, University College London, London, United Kingdom. Electronic address: steve.humphries@ucl.ac.uk.
Atherosclerosis ; 319: 108-117, 2021 02.
Article em En | MEDLINE | ID: mdl-33508743
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Pró-Proteína Convertase 9 / Hiperlipoproteinemia Tipo II Tipo de estudo: Diagnostic_studies / Risk_factors_studies Limite: Child / Humans País/Região como assunto: Europa Idioma: En Revista: Atherosclerosis Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Reino Unido
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Pró-Proteína Convertase 9 / Hiperlipoproteinemia Tipo II Tipo de estudo: Diagnostic_studies / Risk_factors_studies Limite: Child / Humans País/Região como assunto: Europa Idioma: En Revista: Atherosclerosis Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Reino Unido