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Cytosolic phosphoenolpyruvate carboxykinase deficiency: Expanding the clinical phenotype and novel laboratory findings.
Vieira, Päivi; Nagy, Irina I; Rahikkala, Elisa; Väisänen, Marja-Leena; Latva, Katariina; Kaunisto, Kari; Valmari, Pekka; Keski-Filppula, Riikka; Haanpää, Maria K; Sidoroff, Virpi; Miettinen, Päivi J; Arkkola, Tuula; Ojaniemi, Marja; Nuutinen, Matti; Uusimaa, Johanna; Myllynen, Päivi.
Afiliación
  • Vieira P; Clinic for Children and Adolescents, Oulu University Hospital, Oulu, Finland.
  • Nagy II; PEDEGO Research Unit and Medical Research Center, Oulu University Hospital and University of Oulu, Oulu, Finland.
  • Rahikkala E; Department of Clinical Chemistry, Cancer and Translational Medicine Research Unit, Medical Research Center, University of Oulu and Northern Finland Laboratory Centre NordLab, Oulu University Hospital, Oulu, Finland.
  • Väisänen ML; PEDEGO Research Unit and Medical Research Center, Oulu University Hospital and University of Oulu, Oulu, Finland.
  • Latva K; Department of Clinical Genetics, Oulu University Hospital, Oulu, Finland.
  • Kaunisto K; Institute of Biomedicine, University of Turku, Turku, Finland.
  • Valmari P; Department of Clinical Chemistry, Cancer and Translational Medicine Research Unit, Medical Research Center, University of Oulu and Northern Finland Laboratory Centre NordLab, Oulu University Hospital, Oulu, Finland.
  • Keski-Filppula R; Department of Pediatrics, Päijät-Häme Central Hospital, Lahti, Finland.
  • Haanpää MK; Clinic for Children and Adolescents, Oulu University Hospital, Oulu, Finland.
  • Sidoroff V; PEDEGO Research Unit and Medical Research Center, Oulu University Hospital and University of Oulu, Oulu, Finland.
  • Miettinen PJ; Department of Pediatrics, Lapland Central Hospital, Rovaniemi, Finland.
  • Arkkola T; PEDEGO Research Unit and Medical Research Center, Oulu University Hospital and University of Oulu, Oulu, Finland.
  • Ojaniemi M; Department of Clinical Genetics, Oulu University Hospital, Oulu, Finland.
  • Nuutinen M; Institute of Biomedicine, University of Turku, Turku, Finland.
  • Uusimaa J; Department of Clinical Genetics, Turku University Hospital and University of Turku, Turku, Finland.
  • Myllynen P; Department of Pediatrics, North Karelia Central Hospital, Joensuu, Finland.
J Inherit Metab Dis ; 45(2): 223-234, 2022 03.
Article en En | MEDLINE | ID: mdl-34622459

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Fosfoenolpiruvato Carboxiquinasa (GTP) / Hipoglucemia Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adult / Child / Humans Idioma: En Revista: J Inherit Metab Dis Año: 2022 Tipo del documento: Article País de afiliación: Finlandia

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Fosfoenolpiruvato Carboxiquinasa (GTP) / Hipoglucemia Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adult / Child / Humans Idioma: En Revista: J Inherit Metab Dis Año: 2022 Tipo del documento: Article País de afiliación: Finlandia