… Tyni T, Ekholm E, Pihko H. Pregnancy complications are frequent in long-chain 3-… Tyni
T, Majander A, Kalimo H, Rapola J, Pihko H. Pathology of skeletal muscle and impaired …

Background Muscle biopsy is the gold standard for diagnosis of mitochondrial disorders
because of the lack of sensitive biomarkers in serum. Fibroblast growth factor 21 (FGF-21) is a …

Background Leigh syndrome is a progressive neurodegenerative disorder, associated with
primary or secondary dysfunction of the mitochondrial oxidative phosphorylation. Despite the …

While data on the health-related quality of life (HRQOL) of adults are accumulating, very
little is known about the HRQOL—and especially the perceived HRQOL—of children. In our …

Next-generation sequencing has turned out to be a powerful tool to uncover genetic basis of
childhood mitochondrial disorders. We utilized whole-exome analysis and discovered novel …

Although interest in the health-related quality of life (HRQOL) of children has increased in
the last years, validated methods for assessing the HRQOL-and especially the perceived …

… Majander A, Rapola J, Sariola H, Suomalainen A, Pohjavuori A, Pihko H. Diagnosis of fatal
infantile defects of the mitochondrial respiratory chain: age dependence and postmortem …

… telangiectatic retinal vessels (arrowheads), which border avascular peripheral retina in the
right eye (G), and an exudative retinal detachment with yellow lipid exudates in the left eye (H)…

Background: Three rare autosomal recessive disorders share the combination of congenital
muscular dystrophy and brain malformations including a neuronal migration defect: muscle–…

… The nutritional state of our patients, in terms of the W/H index, was satisfactory at the time
of Tx. Other authors have emphasized the importance of adequate nutrition (with the use of …