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Genotype-phenotype correlation in 44 Czech, Slovak, Croatian and Serbian patients with mucopolysaccharidosis type II.
Dvorakova, L; Vlaskova, H; Sarajlija, A; Ramadza, D P; Poupetova, H; Hruba, E; Hlavata, A; Bzduch, V; Peskova, K; Storkanova, G; Kecman, B; Djordjevic, M; Baric, I; Fumic, K; Barisic, I; Reboun, M; Kulhanek, J; Zeman, J; Magner, M.
Afiliação
  • Dvorakova L; Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.
  • Vlaskova H; Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.
  • Sarajlija A; Department of Metabolism and Clinical Genetics, Mother and Child Health Care Institute of Serbia, Belgrade, Serbia.
  • Ramadza DP; School of Medicine, University of Belgrade, Belgrade, Serbia.
  • Poupetova H; Department of Pediatrics, University Hospital Center, Zagreb, Croatia.
  • Hruba E; Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.
  • Hlavata A; Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.
  • Bzduch V; 2nd Department of Pediatrics, Comenius University Medical School in Bratislava University Children's Hospital, Bratislava, Slovakia.
  • Peskova K; 1st Department of Pediatrics, Comenius University Medical School in Bratislava University Children's Hospital, Bratislava, Slovakia.
  • Storkanova G; Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.
  • Kecman B; Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.
  • Djordjevic M; Department of Metabolism and Clinical Genetics, Mother and Child Health Care Institute of Serbia, Belgrade, Serbia.
  • Baric I; Department of Metabolism and Clinical Genetics, Mother and Child Health Care Institute of Serbia, Belgrade, Serbia.
  • Fumic K; School of Medicine, University of Belgrade, Belgrade, Serbia.
  • Barisic I; Department of Pediatrics, University Hospital Center and University of Zagreb, School of Medicine, Zagreb, Croatia.
  • Reboun M; Department of Laboratory Diagnostics, University Hospital Centre Zagreb and School of Medicine, Zagreb, Croatia.
  • Kulhanek J; Department of Paediatrics, Children's Hospital Zagreb, School of Medicine, Zagreb, Croatia.
  • Zeman J; Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.
  • Magner M; Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.
Clin Genet ; 91(5): 787-796, 2017 May.
Article em En | MEDLINE | ID: mdl-27883178

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Mucopolissacaridose II / Mutação Tipo de estudo: Etiology_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male País/Região como assunto: Europa Idioma: En Ano de publicação: 2017 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Mucopolissacaridose II / Mutação Tipo de estudo: Etiology_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male País/Região como assunto: Europa Idioma: En Ano de publicação: 2017 Tipo de documento: Article