Clinical presentations of coenzyme q10 deficiency syndrome
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Genetics Underlying Atypical Parkinsonism and Related Neurodegenerative DisordersCoQ10 Deficiency May Indicate Mitochondrial Dysfunction in Cr(VI) Toxicity.COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency.Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure.Spectrum of combined respiratory chain defects.Fatal neonatal encephalopathy and lactic acidosis caused by a homozygous loss-of-function variant in COQ9.Geranylgeraniol and Neurological Impairment: Involvement of Apoptosis and Mitochondrial Morphology.Biochemical Assessment of Coenzyme Q10 Deficiency.Cerebellar ataxia and severe muscle CoQ10 deficiency in a patient with a novel mutation in ADCK3A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C-methyltransferase deficiency.Chromatin-remodeling SWI/SNF complex regulates coenzyme Q6 synthesis and a metabolic shift to respiration in yeast.Cloning and characterization of decaprenyl diphosphate synthase from three different fungi.
P2860
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P2860
Clinical presentations of coenzyme q10 deficiency syndrome
description
2014 nî lūn-bûn
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2014 թուականի Յուլիսին հրատարակուած գիտական յօդուած
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2014 թվականի հուլիսին հրատարակված գիտական հոդված
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2014年の論文
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2014年学术文章
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name
Clinical presentations of coenzyme q10 deficiency syndrome
@ast
Clinical presentations of coenzyme q10 deficiency syndrome
@en
type
label
Clinical presentations of coenzyme q10 deficiency syndrome
@ast
Clinical presentations of coenzyme q10 deficiency syndrome
@en
prefLabel
Clinical presentations of coenzyme q10 deficiency syndrome
@ast
Clinical presentations of coenzyme q10 deficiency syndrome
@en
P2093
P2860
P356
P1476
Clinical presentations of coenzyme q10 deficiency syndrome
@en
P2093
Catarina M Quinzii
Michio Hirano
Valentina Emmanuele
P2860
P304
P356
10.1159/000360490
P577
2014-07-01T00:00:00Z