Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Juvenile Alpers disease.

Archives of neurology - 1 Jan 2008

Wiltshire Esko, Davidzon Guido, DiMauro Salvatore, Akman Hasan O, Sadleir Lynette, Haas Lindsay, Zuccollo Jane, McEwen Alison, Thorburn David R

Abstract excerpt

BACKGROUND: Alpers disease is commonly associated with polymerase gamma deficiency and usually affects infants or young children. OBJECTIVE: To report a juvenile case of Alpers disease due to mutations in the polymerase gamma gene (POLG1). DESIGN: Clinical, pathologic, biochemical, and molecular analysis. SETTING: Tertiary care university hospital and academic institutions. PATIENT: A 17-year-old adolescent girl...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Anticonvulsants
Share to Diffuse Cerebral Sclerosis of Schilder

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA-Directed DNA Polymerase

Share to DNA Polymerase gamma

Share to Electroencephalography

Share to Electron Transport

Share to Liver Diseases

Share to Seizures

Source

Identifiers

PMID: 18195149
DOI: 10.1001/archneurol.2007.14

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Juvenile Alpers disease.PMID 18195149Read ↗

Alpers syndrome with mutations in POLG: clinical and investigative features.Semantic proximity Read ↗

POLG1 manifestations in childhood.Semantic proximity Read ↗

Epilepsy due to mutations in the mitochondrial polymerase gamma (POLG) gene: A clinical and molecular genetic review.Semantic proximity Read ↗

Phenotypic and genotypic variability in Alpers syndrome.Semantic proximity Read ↗

Molecular diagnosis of Alpers syndrome.Semantic proximity Read ↗

The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations.Semantic proximity Read ↗

Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA.Semantic proximity Read ↗

Compound heterozygous polymerase gamma gene mutation in a patient with Alpers disease.Semantic proximity Read ↗

A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes.Semantic proximity Read ↗

Prospective study of POLG mutations presenting in children with intractable epilepsy: prevalence and clinical features.Semantic proximity Read ↗

Polymerase gamma disease through the ages.Semantic proximity Read ↗

POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.