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Severe phenotype of ATP6AP1-CDG in two siblings with a novel mutation leading to a differential tissue-specific ATP6AP1 protein pattern, cellular oxidative stress and hepatic copper accumulation.
Ondruskova, Nina; Honzik, Tomas; Vondrackova, Alzbeta; Stranecky, Viktor; Tesarova, Marketa; Zeman, Jiri; Hansikova, Hana.
Affiliation
  • Ondruskova N; Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
  • Honzik T; Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
  • Vondrackova A; Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
  • Stranecky V; Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
  • Tesarova M; Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
  • Zeman J; Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
  • Hansikova H; Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
J Inherit Metab Dis ; 43(4): 694-700, 2020 07.
Article in En | MEDLINE | ID: mdl-32216104
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Congenital Disorders of Glycosylation / Copper / Vacuolar Proton-Translocating ATPases / Immunologic Deficiency Syndromes / Liver Diseases Type of study: Diagnostic_studies / Prognostic_studies Limits: Humans / Infant / Male Language: En Journal: J Inherit Metab Dis Year: 2020 Document type: Article Affiliation country: Czech Republic
Fulltext
Add to My VHL
Print
XML
PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Congenital Disorders of Glycosylation / Copper / Vacuolar Proton-Translocating ATPases / Immunologic Deficiency Syndromes / Liver Diseases Type of study: Diagnostic_studies / Prognostic_studies Limits: Humans / Infant / Male Language: En Journal: J Inherit Metab Dis Year: 2020 Document type: Article Affiliation country: Czech Republic