Mitochondrial disease confirmation and establishment of a specific molecular diagnosis
requires extensive clinical and laboratory evaluation. Dual genome origins of mitochondrial …

Magnetic resonance (MR) spectroscopy is an analytical method used in chemistry that
enables the identification and quantification of metabolites in samples. It differs from …

Notorious variability in the presentation of mitochondrial disease in the infant and young
child complicates its clinical diagnosis. Mitochondrial disease is not a single entity but …

Myalgic encephalomyelitis/chronic fatigue syndrome (ME/cfs) is classified by the World
Health Organization as a disorder of the central nervous system. ME/cfs is an neuro-immune …

Mitochondrial disease represents a heterogeneous group of genetic disorders that require a
variety of diagnostic tests for proper determination. Neuroimaging may play a significant role …

The central nervous system (CNS) is, after the peripheral nervous system, the second most
frequently affected organ in mitochondrial disorders (MCDs). CNS involvement in MCDs is …

Case reports and open‐label studies suggest that coenzyme Q10 (CoQ10) treatment may
have beneficial effects in mitochondrial disease patients; however, controlled trials are …

Neonatal seizures are the most prevalent and distinctive sign of neurologic dysfunction in
early life and pose an immense challenge for clinicians. Improvements in neonatal care …

Magnetic resonance spectroscopy (MRS) offers a unique, noninvasive approach to assess
pediatric neurological abnormalities at microscopic levels by quantifying cellular …

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE-MTDPS1) is a devastating
autosomal recessive disorder due to mutations in TYMP, which cause a loss of function of …