Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase.
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Mitochondrial disease in childhood: nuclear encodedMitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic optionsNucleotide salvage deficiencies, DNA damage and neurodegenerationRenal manifestations of primary mitochondrial disorders.Mitochondrial dysfunction in inherited renal disease and acute kidney injuryMolecular and clinical genetics of mitochondrial diseases due to POLG mutations.Mapping topoisomerase sites in mitochondrial DNA with a poisonous mitochondrial topoisomerase I (Top1mt).Defects in mitochondrial DNA replication and human diseaseClinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 geneAbnormalities in glycogen metabolism in a patient with alpers' syndrome presenting with hypoglycemia.Mitochondrial (dys)function - a factor underlying the variability of efavirenz-induced hepatotoxicity?Mitochondrial DNA content varies with pathological characteristics of breast cancer.Two patients with hepatic mtDNA depletion syndromes and marked elevations of S-adenosylmethionine and methionineMitochondrial DNA Depletion and Deletions in Paediatric Patients with Neuromuscular Diseases: Novel Phenotypes.Neonatal liver failure due to deoxyguanosine kinase deficiencyNext-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions.Mitochondrial respiratory chain hepatopathies: role of liver transplantation. A case series of five patients.Recurrent recessive mutation in deoxyguanosine kinase causes idiopathic noncirrhotic portal hypertension.Reduced mitochondrial DNA content and heterozygous nuclear gene mutations in patients with acute liver failure.Evaluation of the child with suspected mitochondrial liver diseasePotentially diagnostic electron paramagnetic resonance spectra elucidate the underlying mechanism of mitochondrial dysfunction in the deoxyguanosine kinase deficient rat model of a genetic mitochondrial DNA depletion syndromeSyndromes associated with mitochondrial DNA depletion.Peripheral neuropathy associated with mitochondrial disease in children.Genetic axonal neuropathies and neuronopathies of pre-natal and infantile onset.Gastrointestinal and hepatic manifestations of mitochondrial disorders.Long-term outcomes after liver transplantation for deoxyguanosine kinase deficiency: a single-center experience and a review of the literature.Quantitative Analysis of mtDNA Content in Formalin-Fixed Paraffin-Embedded Muscle Tissue.Clinical variability in neurohepatic syndrome due to combined mitochondrial DNA depletion and Gaucher diseaseDesmin common mutation is associated with multi-systemic disease manifestations and depletion of mitochondria and mitochondrial DNAAdministration of deoxyribonucleosides or inhibition of their catabolism as a pharmacological approach for mitochondrial DNA depletion syndrome.French retrospective multicentric study of neonatal hemochromatosis: importance of autopsy and autoimmune maternal manifestations.Liver pathology in infantile mitochondrial DNA depletion syndrome.Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations.A fatal case of mitochondrial DNA depletion syndrome with novel compound heterozygous variants in the deoxyguanosine kinase gene.FBXL4 defects are common in patients with congenital lactic acidemia and encephalomyopathic mitochondrial DNA depletion syndrome.Inborn errors of purine metabolism: clinical update and therapies.Real-time quantitative PCR analysis of mitochondrial DNA content.Application of dual-genome oligonucleotide array-based comparative genomic hybridization to the molecular diagnosis of mitochondrial DNA deletion and depletion syndromes.ILDR2 has a negligible role in hepatic steatosis.Deoxyguanosine kinase mutation producing juvenile-onset mitochondrial myopathy
P2860
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P2860
Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase.
description
2008 nî lūn-bûn
@nan
2008年の論文
@ja
2008年学术文章
@wuu
2008年学术文章
@zh
2008年学术文章
@zh-cn
2008年学术文章
@zh-hans
2008年学术文章
@zh-my
2008年学术文章
@zh-sg
2008年學術文章
@yue
2008年學術文章
@zh-hant
name
Clinical and molecular feature ...... ions in deoxyguanosine kinase.
@en
Clinical and molecular feature ...... ions in deoxyguanosine kinase.
@nl
type
label
Clinical and molecular feature ...... ions in deoxyguanosine kinase.
@en
Clinical and molecular feature ...... ions in deoxyguanosine kinase.
@nl
prefLabel
Clinical and molecular feature ...... ions in deoxyguanosine kinase.
@en
Clinical and molecular feature ...... ions in deoxyguanosine kinase.
@nl
P2093
P50
P356
P1433
P1476
Clinical and molecular feature ...... tions in deoxyguanosine kinase
@en
P2093
C H Ficicioglu
F M Santorelli
K Wierenga
P304
P356
10.1002/HUMU.9519
P577
2008-02-01T00:00:00Z