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Clinical manifestations and molecular aspects of phosphoribosylpyrophosphate synthetase superactivity in females.
Zikánová, Marie; Wahezi, Dawn; Hay, Arielle; Stiburková, Blanka; Pitts, Charles; Musálková, Dita; Skopová, Václava; Baresová, Veronika; Soucková, Olga; Hodanová, Katerina; Zivná, Martina; Stránecký, Viktor; Hartmannová, Hana; Hnízda, Ales; Bleyer, Anthony J; Kmoch, Stanislav.
Afiliação
  • Zikánová M; Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.
  • Wahezi D; Pediatric Rheumatology, Children's Hospital at Montefiore, Bronx, NY, USA.
  • Hay A; Pediatric Rheumatology, Nicklaus Children's Hospital, Miami, FL, USA.
  • Stiburková B; Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.
  • Pitts C; Institute of Rheumatology, Prague, Czech Republic.
  • Musálková D; Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, NC.
  • Skopová V; Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.
  • Baresová V; Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.
  • Soucková O; Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.
  • Hodanová K; Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.
  • Zivná M; Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.
  • Stránecký V; Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.
  • Hartmannová H; Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.
  • Hnízda A; Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.
  • Bleyer AJ; Institute of Organic Chemistry and Biochemistry, Academy of Sciences of the Czech Republic, Prague, Czech Republic.
  • Kmoch S; Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.
Rheumatology (Oxford) ; 57(7): 1180-1185, 2018 07 01.
Article em En | MEDLINE | ID: mdl-30423175
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Erros Inatos do Metabolismo da Purina-Pirimidina / Ribose-Fosfato Pirofosfoquinase / Doenças Genéticas Ligadas ao Cromossomo X Tipo de estudo: Etiology_studies / Risk_factors_studies Limite: Adolescent / Adult / Female / Humans / Male Idioma: En Revista: Rheumatology (Oxford) Assunto da revista: REUMATOLOGIA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: República Tcheca
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Erros Inatos do Metabolismo da Purina-Pirimidina / Ribose-Fosfato Pirofosfoquinase / Doenças Genéticas Ligadas ao Cromossomo X Tipo de estudo: Etiology_studies / Risk_factors_studies Limite: Adolescent / Adult / Female / Humans / Male Idioma: En Revista: Rheumatology (Oxford) Assunto da revista: REUMATOLOGIA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: República Tcheca