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Variable clinical presentation of glycogen storage disease type IV: from severe hepatosplenomegaly to cardiac insufficiency. Some discrepancies in genetic and biochemical abnormalities.
Szymanska, Edyta; Szymanska, Sylwia; Truszkowska, Grazyna; Ciara, Elzbieta; Pronicki, Maciej; Shin, Yoon S; Podskarbi, Teodor; Kepka, Alina; Spiewak, Mateusz; Ploski, Rafal; Bilinska, Zofia T; Rokicki, Dariusz.
Afiliação
  • Szymanska E; Department of Pediatrics, Nutrition and Metabolic Disorders, the Children's Memorial Health Institute, Warsaw, Poland.
  • Szymanska S; Department of Pathology, the Children's Memorial Health Institute, Warsaw, Poland.
  • Truszkowska G; Department of Medical Biology, Molecular Biology Laboratory, Institute of Cardiology, Warsaw, Poland.
  • Ciara E; Department of Medical Genetics, the Children's Memorial Health Institute, Warsaw, Poland.
  • Pronicki M; Department of Pathology, the Children's Memorial Health Institute, Warsaw, Poland.
  • Shin YS; University Children's Hospital and Molecular Genetics and Metabolism Laboratory, Munich, Germany.
  • Podskarbi T; Molecular Genetics and Metabolism Laboratory, Munich, Germany.
  • Kepka A; Department of Biochemistry, Radioimmunology and Experimental Medicine, the Children's Memorial Health Institute, Warsaw, Poland.
  • Spiewak M; Cardiac Magnetic Resonance Unit, Institute of Cardiology, Warsaw, Poland.
  • Ploski R; Department of Medical Genetics, Centre of Biostructure, Medical University of Warsaw, Warsaw, Poland.
  • Bilinska ZT; Unit for Screening Studies in Inherited Cardiovascular Diseases, Institute of Cardiology, Warsaw, Poland.
  • Rokicki D; Department of Pediatrics, Nutrition and Metabolic Disorders, the Children's Memorial Health Institute, Warsaw, Poland.
Arch Med Sci ; 14(1): 237-247, 2018 Jan.
Article em En | MEDLINE | ID: mdl-29379554
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Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2018 Tipo de documento: Article