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Difficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. The role of next-generation sequencing.
Ciara, E; Rokicki, D; Halat, P; Karkucinska-Wieckowska, A; Piekutowska-Abramczuk, D; Mayr, J; Trubicka, J; Szymanska-Debinska, T; Pronicki, M; Pajdowska, M; Dudzinska, M; Gizewska, M; Krajewska-Walasek, M; Ksiazyk, J; Sperl, W; Ploski, R; Pronicka, E.
Affiliation
  • Ciara E; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.
  • Rokicki D; Department of Pediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland.
  • Halat P; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.
  • Karkucinska-Wieckowska A; Department of Pathology, The Children's Memorial Health Institute, Warsaw, Poland.
  • Piekutowska-Abramczuk D; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.
  • Mayr J; Department of Pediatrics, Paracelsus Medical University, Salzburg, Austria.
  • Trubicka J; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.
  • Szymanska-Debinska T; Department of Pathology, The Children's Memorial Health Institute, Warsaw, Poland.
  • Pronicki M; Department of Pathology, The Children's Memorial Health Institute, Warsaw, Poland.
  • Pajdowska M; Department of Biochemistry and Experimental Medicine, The Children's Memorial Health Institute, Warsaw, Poland.
  • Dudzinska M; Department of Child Neurology, Chorzowskie Centrum Pediatrii i Onkologii, Chorzów, Poland.
  • Gizewska M; Department of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology, Pomeranian Medical University, Szczecin, Poland.
  • Krajewska-Walasek M; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.
  • Ksiazyk J; Department of Pediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland.
  • Sperl W; Department of Pediatrics, Paracelsus Medical University, Salzburg, Austria.
  • Ploski R; Department of Medical Genetics, Warsaw Medical University, Warsaw, Poland.
  • Pronicka E; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland; Department of Pediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland.
Mol Genet Metab Rep ; 7: 70-6, 2016 Jun.
Article in En | MEDLINE | ID: mdl-27144126
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Full text: 1 Collection: 01-internacional Database: MEDLINE Type of study: Guideline Language: En Journal: Mol Genet Metab Rep Year: 2016 Document type: Article Affiliation country: Poland
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Full text: 1 Collection: 01-internacional Database: MEDLINE Type of study: Guideline Language: En Journal: Mol Genet Metab Rep Year: 2016 Document type: Article Affiliation country: Poland