Multiple oxidative phosphorylation deficiencies in severe childhood multi-system disorders due to polymerase gamma (POLG1) mutations.
about
Alpers-Huttenlocher syndrome: the role of a multidisciplinary health care teamAlpers-Huttenlocher syndromeBiochemical diagnosis of mitochondrial disordersEpilepsy due to mutations in the mitochondrial polymerase gamma (POLG) gene: A clinical and molecular genetic review.Variation in DNA Base Excision Repair Genes in Fuchs Endothelial Corneal DystrophyOxidative stress and mitochondrial dysfunction across broad-ranging pathologies: toward mitochondria-targeted clinical strategies.Molecular and biochemical characterisation of a novel mutation in POLG associated with Alpers syndrome.Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.Defects of mitochondrial DNA replication.The 3-methylglutaconic acidurias: what's new?Defects in mitochondrial DNA replication and human diseaseAbnormalities in glycogen metabolism in a patient with alpers' syndrome presenting with hypoglycemia.Novel POLG1 mutations in a patient with adult-onset progressive external ophthalmoplegia and encephalopathy.Polymorphism of the DNA base excision repair genes in keratoconus.Mutations in human DNA polymerase γ confer unique mechanisms of catalytic deficiency that mirror the disease severity in mitochondrial disorder patients.Mitochondrial deficiency in Cockayne syndrome.Causes of Death in Adults with Mitochondrial DiseaseClinical and molecular features of POLG-related mitochondrial disease.DNA polymerase gamma and mitochondrial disease: understanding the consequence of POLG mutations.Disease mutations in the human mitochondrial DNA polymerase thumb subdomain impart severe defects in mitochondrial DNA replication.De novo mutation in POLG leads to haplotype insufficiency and Alpers syndrome.The mitochondrial DNA polymerase in health and disease.The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations.Fatal congenital myopathy and gastrointestinal pseudo-obstruction due to POLG1 mutations.Energetic, oxidative and ionic exchange in rat brain and liver mitochondria at experimental audiogenic epilepsy (Krushinsky-Molodkina model).Phenotypic variations in 3 children with POLG1 mutations.Mitochondrial Depletion Syndromes in Children and Adults
P2860
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P2860
Multiple oxidative phosphorylation deficiencies in severe childhood multi-system disorders due to polymerase gamma (POLG1) mutations.
description
2006 nî lūn-bûn
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2006年の論文
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2006年学术文章
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2006年学术文章
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name
Multiple oxidative phosphoryla ...... erase gamma (POLG1) mutations.
@en
Multiple oxidative phosphoryla ...... orders due to polymerase gamma
@nl
type
label
Multiple oxidative phosphoryla ...... erase gamma (POLG1) mutations.
@en
Multiple oxidative phosphoryla ...... orders due to polymerase gamma
@nl
prefLabel
Multiple oxidative phosphoryla ...... erase gamma (POLG1) mutations.
@en
Multiple oxidative phosphoryla ...... orders due to polymerase gamma
@nl
P2093
P2860
P1476
Multiple oxidative phosphoryla ...... erase gamma (POLG1) mutations.
@en
P2093
Edwin P M van Kaauwen
Eva Morava
Henk ter Laak
Irina N Snoeck
Jan A M Smeitink
Lambert P W van den Heuvel
Maaike C de Vries
Peter Harding
Peter M van Hasselt
Reinier A Mullaart
P2860
P2888
P304
P356
10.1007/S00431-006-0234-9
P577
2006-09-07T00:00:00Z