Background: Mitochondrial disorders result from primary defects in the mitochondrial DNA
(mtDNA) or from defects in nuclear genes which cause disease by affecting the mtDNA …

We studied nine infant patients with a combination of progressive neurological and hepatic
failure. Eight children, including two sibling pairs and four singletons, were affected by …

Mitochondrial diseases are a complex and heterogeneous group of genetic disorders that
occur as a result of either nuclear DNA or mitochondrial DNA pathogenic variants, leading to …

Objective: The pathomechanisms of transient global amnesia (TGA) remain enigmatic. Focal
MR signal diffusion changes in the CA-1 sector of the hippocampus have been described in …

AIM: To explore the quantitative analysis of diffusion-weighted magnetic resonance imaging
(DWMRI) in differential diagnosis of focal hepatic lesions. METHODS: DWMRI was …

Alpers syndrome is a rare autosomal recessive hepatocerebral degenerative disorder.
Seventeen patients with Alpers syndrome or polymerase-γ gene mutations were identified …

Alpers syndrome was not clearly defined until the link between brain and liver disease was
described. Alpers syndrome can now be clearly established as a disorder of oxidative …

Purpose Mitochondrial encephalopathy (ME) is a rare disorder of energy metabolism. The
disease course can roughly be evaluated by clinical findings. The purpose of this study was …

History A 10-year-old girl with global developmental delay and attention deficit hyperactivity
disorder was transferred from an outside hospital because of confusion and multiple …

Alpers-Huttenlocher syndrome (AHS) is an uncommon autosomal recessive mitochondrial
DNA depletion disease. The classic clinical triad of progressive developmental regression …