- Severe hepatopathy and neurological deterioration after start of valproate treatment in a 6-year-old child with mitochondrial tryptophanyl-tRNA synthetase deficiency
- Polymerase gamma deficiency (POLG): clinical course in a child with two stage evolution from infantile myocerebrohepatopathy spectrum to an Alpers syndrome and neuropathological findings of Leigh’s encephalopathy
- Mitochondrial mosaics in the liver of 3 infants with mtDNA defects
Immunostaining technniques in patients with mtDNA depletion
2008) JOURNAL OF INHERITED METABOLIC DISEASE. SUPPLEMENT. 31(1). p.54-54 Mark(
- Mitochondrial mosaics in the liver of patients with Pearson and Alpers-Huttenlocher syndromes
- No evidence for involvement of SDHD in neuroblastoma pathogenesis
- Ultrastructural localization of cytochrome c in apoptosis demonstrates mitochondrial heterogeneity.