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Leigh syndrome

Leigh's disease
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Review Articles from PubMed

Review articles summarize what is currently known about a disease. They discuss research previously published by others. The terms "Leigh syndrome" returned 6 free, full-text review articles. First few results:
NDUFS6 related Leigh syndrome: a case report and review of the literature.
Last Updated: May 08, 2020

The genetic causes of Leigh syndrome are heterogeneous, with a poor genotype-phenotype correlation. To date, more than 50 nuclear genes cause nuclear gene-encoded Leigh syndrome. NDUFS6 encodes a 13 kiloDaltons subunit, which is part of the peripheral arm of complex I and is localized ...

Adult-onset Leigh syndrome linked to the novel stop codon mutation m.6579G>A in MT-CO1.
Last Updated: Apr 27, 2020

Adult-onset Leigh syndrome is a rare but important manifestation of mitochondrial disease. We report a 17 year old female who presented with subacute encephalopathy, brainstem and extrapyramidal signs, raised CSF lactate, and symmetrical hyperintensities in the basal ganglia on ...

Management of Leigh syndrome: Current status and new insights.
Last Updated: Dec 03, 2019

Leigh syndrome (LS) is an inherited mitochondrial encephalopathy associated with gene mutations of oxidative phosphorylation pathway that result in early disability and death in affected young children. Currently, LS is incurable and unresponsive to many treatments, although some ...

Full PubMed Review articles matches at NCBI:
6 Free Review Articles 27 Review Articles

Editorials from PubMed

Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "Leigh syndrome" returned 0 free, full-text editorial articles. First 0 results:
Genetic heterogeneity in Leigh syndrome.
Last Updated: Nov 15, 2006

Full PubMed Editorials matches at NCBI:
0 Free Editorials 1 Editorials

Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "Leigh syndrome" returned 90 free, full-text research articles. First few results:
A meta-analysis and systematic review of Leigh syndrome: clinical manifestations, respiratory chain enzyme complex deficiency, and gene mutations.
Last Updated: Feb 19, 2020

Leigh syndrome (also called Leigh disease or subacute necrotizing encephalomyelopathy) is a rare inherited neurometabolic disorder, which affects the central nervous system. This meta-study systematically analyzed clinical manifestations, respiratory chain enzyme complex deficiency, ...

Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency.
Last Updated: Apr 17, 2020

Leigh syndrome is one of the most common neurological phenotypes observed in pediatric mitochondrial disease presentations. It is characterized by symmetrical lesions found on neuroimaging in the basal ganglia, thalamus, and brainstem and by a loss of motor skills and delayed developmental ...

Full PubMed Research articles matches at NCBI:
90 Free Research Articles 358 Research Articles