Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure.
about
The COQ2 genotype predicts the severity of coenzyme Q10 deficiencyMitochondrial dysfunction in inherited renal disease and acute kidney injuryCoenzyme Q deficiency causes impairment of the sulfide oxidation pathway.A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C-methyltransferase deficiency.Intersociety policy statement on the use of whole-exome sequencing in the critically ill newborn infant.Co-Enzyme Q10 and n-3 Polyunsaturated Fatty Acid Supplementation Reverse Intermittent Hypoxia-Induced Growth Restriction and Improved Antioxidant Profiles in Neonatal Rats.Mutations in COQ8B (ADCK4) found in patients with steroid-resistant nephrotic syndrome alter COQ8B function.Diffuse mesangial sclerosis in a PDSS2 mutation-induced coenzyme Q10 deficiency.Biochemistry of Mitochondrial Coenzyme Q Biosynthesis.Coenzyme Q10 Supplementation in Aging and Disease.Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations.RNA-binding proteins regulate cell respiration and coenzyme Q biosynthesis by post-transcriptional regulation of COQ7.
P2860
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P2860
Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure.
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
2015年论文
@zh
2015年论文
@zh-cn
name
Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure.
@ast
Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure.
@en
type
label
Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure.
@ast
Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure.
@en
prefLabel
Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure.
@ast
Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure.
@en
P2093
P2860
P50
P356
P1476
Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure.
@en
P2093
Alberto Burlina
Alberto Casarin
Eva Trevisson
Giada Lunardi
Leonardo Salviati
Lino Chiandetti
Mara Doimo
Marco Spinazzi
Maria Andrea Desbats
Maurizio Clementi
P2860
P2888
P304
P356
10.1038/EJHG.2014.277
P50
P577
2015-01-07T00:00:00Z