- Mutation of the iron-sulfur cluster assembly IBA57 gene causes lethal myopathy and encephalopathy
- Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy
- Subcomplexes of mitochondrial complex V reveal mutations in mitochondrial DNA
- Diagnostic value of immunostaining in cultured skin fibroblasts from patients with oxidative phosphorylation defects
Aminoacylase I deficiency: A novel inborn error of metabolism
2005) BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS. 338(3). p.1322-1326 Mark(
- Immunocytochemiscal staining of cultured fibroblasts is available first line screening test for oxidative phosphorylation.
- Immunocytochemical staining of cultured fibroblasts is a valuable first line screening test for oxidative phosphorylation defects.
- Ataxia oculomotor apraxia I
- Dominant inheritance of sialuria, an inborn error of feedback inhibition.
- Fungal intracranial aneurysm in a child with familial chronic mucocutaneous candidiasis.