Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS)
syndrome is one of the most frequent maternally inherited mitochondrial disorders. MELAS …

Purpose: The purpose of this statement is to review the literature regarding mitochondrial
disease and to provide recommendations for optimal diagnosis and treatment. This …

Mitochondrial disorders represent a large collection of rare syndromes that are difficult to
manage both because we do not fully understand biochemical pathogenesis and because …

In addition to oxidative phosphorylation (OXPHOS), mitochondria perform other functions
such as heme biosynthesis and oxygen sensing and mediate calcium homeostasis, cell …

Mitochondrial diseases are a clinically and genetically heterogeneous group of disorders
that result from dysfunction of the mitochondrial oxidative phosphorylation due to molecular …

The purpose of this study was to compare the effects of l-citrulline (Cit) and l-arginine (Arg)
supplementation on nitric oxide (NO) biomarkers, pulmonary O 2 uptake (V̇ o 2) kinetics …

Primary mitochondrial disease (PMD) is a group of complex genetic disorders that arise due
to pathogenic variants in nuclear or mitochondrial genomes. Although PMD is one of the …

Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) is
a disease that should be considered as a differential diagnosis to acute ischemic stroke …

Neurometabolic diseases (NMDs) are typically caused by genetic abnormalities affecting
enzyme functions, which in turn interfere with normal development and activity of the …

Mitochondrial diseases (MDs) are a heterogeneous group of disorders resulting from
mutations in nuclear or mitochondrial DNA genes encoding mitochondrial proteins,. MDs …