Post mortem identification of deoxyguanosine kinase (DGUOK) gene mutations combined with impaired glucose homeostasis and iron overload features in four infants with severe progressive liver failure

Lignende værker

• Drug-resistant epilepsia and fulminant valproate liver toxicity. Alpers-Huttenlocher syndrome in two children confirmed post mortem by identification of p.W748S mutation in POLG gene
  af: Pronicka, Ewa, et al.
  Udgivet: (2011)
• Light and electron microscopy characteristics of the muscle of patients with SURF1 gene mutations associated with Leigh disease
  af: Pronicki, M, et al.
  Udgivet: (2008)
• New perspective in diagnostics of mitochondrial disorders: two years’ experience with whole-exome sequencing at a national paediatric centre
  af: Pronicka, Ewa, et al.
  Udgivet: (2016)
• Difficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. The role of next-generation sequencing
  af: Ciara, E., et al.
  Udgivet: (2016)
• Left ventricular noncompaction (LVNC) and low mitochondrial membrane potential are specific for Barth syndrome
  af: Karkucinska-Wieckowska, Agnieszka, et al.
  Udgivet: (2013)