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Alpers Syndrome

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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 "Alpers Syndrome" returned 2 free, full-text review articles. First 2 results:
Alpers-Huttenlocher syndrome.
Last Updated: Mar 11, 2020

Alpers-Huttenlocher syndrome is an uncommon mitochondrial disease most often associated with mutations in the mitochondrial DNA replicase, polymerase-γ. Alterations in enzyme activity result in reduced levels or deletions in mitochondrial DNA. Phenotypic manifestations occur when ...

Alpers syndrome: progressive neuronal degeneration of children with liver disease.
Last Updated: Nov 16, 2017

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 metabolism related to mitochondrial dysfunction, and in most instances with an autosomal mode of inheritance. ...

Progressive neuronal degeneration of childhood with liver disease (Alpers-Huttenlocher syndrome): a personal review.
Last Updated: Feb 14, 2017

Thirty-two autopsied cases of progressive neuronal degeneration of childhood with liver disease are reviewed. The typical clinical course is intractable seizures and liver failure following a period of developmental delay and failure to thrive in early infancy, but some children first ...

Full PubMed Review articles matches at NCBI:
2 Free Review Articles 3 Review Articles

Editorials from PubMed

Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "Alpers Syndrome" returned 0 free, full-text editorial articles. First 0 results:
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 "Alpers Syndrome" returned 9 free, full-text research articles. First few results:
Specific EEG markers in POLG1 Alpers' syndrome.
Last Updated: Aug 13, 2019

To examine whether rhythmic high-amplitude delta with superimposed (poly)spikes (RHADS) in EEG allow a reliable early diagnosis of Alpers-Huttenlocher syndrome (AHS) and contribute to recognition of this disease.

Dissecting the neuronal vulnerability underpinning Alpers' syndrome: a clinical and neuropathological study.
Last Updated: Mar 11, 2020

Alpers' syndrome is an early-onset neurodegenerative disorder often caused by biallelic pathogenic variants in the gene encoding the catalytic subunit of polymerase-gamma (POLG) which is essential for mitochondrial DNA (mtDNA) replication. Alpers' syndrome is characterized by intractable ...

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9 Free Research Articles 42 Research Articles