Molecular studies of Polish patients with respiratory chain complex I deficiency
Paweł Kowalski(Children's Memorial Health Institute), Ewa Pronicka(Children's Memorial Health Institute), Jan Smeıtınk(Khondrion (Netherlands)), Joanna Trubicka(Children's Memorial Health Institute), Orly Elpeleg(Hadassah Medical Center), Magdalena Pelc(Children's Memorial Health Institute), Edyta Czekuć-Kryśkiewicz(Children's Memorial Health Institute), Liliana Bielecka(Children's Memorial Health Institute), S. Brandon Luczak(Children's Memorial Health Institute), Dorota Piekutowska‐Abramczuk(Children's Memorial Health Institute), Elżbieta Ciara(Children's Memorial Health Institute), Maria Borucka-Mankiewicz(Children's Memorial Health Institute), Jacek Pilch(Medical University of Silesia), Ewa Jamroz(Medical University of Silesia), Anna Tańska(Children's Memorial Health Institute), Dorota Jurkiewicz(Children's Memorial Health Institute), Ewa Popowska(Instytut Matki i Dziecka), Elżbieta Karczmarewicz(Children's Memorial Health Institute), Małgorzata Krajewska‐Walasek(Children's Memorial Health Institute)
Cited by 0
Related Papers
A gene (PEX) with homologies to endopeptidases is mutated in patients with X–linked hypophosphatemic rickets
|Nature Genetics|1995|1.1k
Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy
|Nature Genetics|2001|618
Clinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statement
|Nature Reviews Endocrinology|2018|596
The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA
|Nature Genetics|2001|584
FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study
|The Lancet Neurology|2011|420