176th ENMC International Workshop: diagnosis and treatment of coenzyme Q₁₀ deficiency
about
Mitochondrial dysfunction in inherited renal disease and acute kidney injuryBiochemical diagnosis of coenzyme q10 deficiency.Effects of inhibiting CoQ10 biosynthesis with 4-nitrobenzoate in human fibroblasts.CoQ(10) deficiencies and MNGIE: two treatable mitochondrial disorders.Restoring de novo coenzyme Q biosynthesis in Caenorhabditis elegans coq-3 mutants yields profound rescue compared to exogenous coenzyme Q supplementation.Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society.Treatable Leigh-like encephalopathy presenting in adolescence.Mitochondrial-associated metabolic disorders: foundations, pathologies and recent progress.Development of pharmacological strategies for mitochondrial disorders.Inborn errors of metabolism causing epilepsy.Molecular genetics of ubiquinone biosynthesis in animals.Primary coenzyme Q10 (CoQ 10) deficiencies and related nephropathies.Genetic bases and clinical manifestations of coenzyme Q10 (CoQ 10) deficiency.Invertebrate models for coenzyme q10 deficiency.Emerging aspects of treatment in mitochondrial disorders.Leigh syndrome: One disorder, more than 75 monogenic causes.Characterization of CoQ₁₀ biosynthesis in fibroblasts of patients with primary and secondary CoQ₁₀ deficiency.Human neuronal coenzyme Q10 deficiency results in global loss of mitochondrial respiratory chain activity, increased mitochondrial oxidative stress and reversal of ATP synthase activity: implications for pathogenesis and treatment.Genetics of coenzyme q10 deficiency.Mitochondrial disease--an important cause of end-stage renal failure.Diffuse mesangial sclerosis in a PDSS2 mutation-induced coenzyme Q10 deficiency.ADCK3 mutations with epilepsy, stroke-like episodes and ataxia: a POLG mimic?Coenzyme Q10 deficiency in children: frequent type 2C muscle fibers with normal morphology.
P2860
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P2860
176th ENMC International Workshop: diagnosis and treatment of coenzyme Q₁₀ deficiency
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
2011年论文
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2011年论文
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name
176th ENMC International Workshop: diagnosis and treatment of coenzyme Q₁₀ deficiency
@ast
176th ENMC International Workshop: diagnosis and treatment of coenzyme Q₁₀ deficiency
@en
type
label
176th ENMC International Workshop: diagnosis and treatment of coenzyme Q₁₀ deficiency
@ast
176th ENMC International Workshop: diagnosis and treatment of coenzyme Q₁₀ deficiency
@en
prefLabel
176th ENMC International Workshop: diagnosis and treatment of coenzyme Q₁₀ deficiency
@ast
176th ENMC International Workshop: diagnosis and treatment of coenzyme Q₁₀ deficiency
@en
P2093
P2860
P1476
176th ENMC International Workshop: diagnosis and treatment of coenzyme Q₁₀ deficiency
@en
P2093
Catherine F Clarke
Michio Hirano
Shamima Rahman
P2860
P356
10.1016/J.NMD.2011.05.001
P577
2011-07-01T00:00:00Z