Show
Sort by
-
Steroids in intractable childhood epilepsy: clinical experience and review of the literature
-
is livertransplantation indicated in metabolic disorders with neurological involvement? two case reports
-
Immunocytochemical staining of cultured fibroblasts is a valuable first line screening test for oxidative phosphorylation defects.
-
Diagnostics in mitochondrial diseases: The need of collaboration between clinician and research laboratorie.
-
Denaturating high performance liquid chromatography, a rapid mutation screening technique for the entire mitochondrial genome.
-
Immunocytochemiscal staining of cultured fibroblasts is available first line screening test for oxidative phosphorylation.
-
Aminoacylase I deficiency: A novel inborn error of metabolism
-
Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12
-
Analysis of the mitochondrial encoded subunits of complex 1 in 20 patients with a complex 1 deficiency
-
Clinical and diagnostic characteristics of complex III deficiency due to mutations in the BCS1L gene