The neurogenic weakness, ataxia and retinitis pigmentosa (NARP) syndrome mtDNA mutation (T8993G) triggers muscle ATPase deficiency and hypocitrullinaemia

The neurogenic weakness, ataxia and retinitis pigmentosa (NARP) syndrome mtDNA mutation (T8993G) triggers muscle ATPase deficiency and hypocitrullinaemia

Item
http://www.wikidata.org/entity/Q28296731
Neonatal presentation of ventricular tachycardia and a Reye-like syndrome episode associated with disturbed mitochondrial energy metabolism.Argininosuccinate synthetase from the urea cycle to the citrulline-NO cycleProteomic and metabolomic analyses of mitochondrial complex I-deficient mouse model generated by spontaneous B2 short interspersed nuclear element (SINE) insertion into NADH dehydrogenase (ubiquinone) Fe-S protein 4 (Ndufs4) geneLeigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD).Restoration of impaired nitric oxide production in MELAS syndrome with citrulline and arginine supplementation.Septo-optic dysplasia associated with a new mitochondrial cytochrome b mutation.Mice lacking TR4 nuclear receptor develop mitochondrial myopathy with deficiency in complex I.Inherited disorders affecting mitochondrial function are associated with glutathione deficiency and hypocitrullinemia.Mitochondrial DNA background modifies the bioenergetics of NARP/MILS ATP6 mutant cells.m.8993T>G-Associated Leigh Syndrome with Hypocitrullinemia on Newborn Screening.Low citrulline in Leigh disease: still a biomarker of maternally inherited Leigh syndrome.Biochemical abnormalities in Pearson syndrome.Rewiring of Glutamine Metabolism Is a Bioenergetic Adaptation of Human Cells with Mitochondrial DNA Mutations
P2860

The neurogenic weakness, ataxia and retinitis pigmentosa (NARP) syndrome mtDNA mutation (T8993G) triggers muscle ATPase deficiency and hypocitrullinaemia

Item
http://www.wikidata.org/entity/Q28296731
description
1999 nî lūn-bûn
@nan
1999 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
The neurogenic weakness, ataxi ...... iciency and hypocitrullinaemia
@ast
The neurogenic weakness, ataxi ...... iciency and hypocitrullinaemia
@en
The neurogenic weakness, ataxi ...... iciency and hypocitrullinaemia
@nl
type
label
The neurogenic weakness, ataxi ...... iciency and hypocitrullinaemia
@ast
The neurogenic weakness, ataxi ...... iciency and hypocitrullinaemia
@en
The neurogenic weakness, ataxi ...... iciency and hypocitrullinaemia
@nl
prefLabel
The neurogenic weakness, ataxi ...... iciency and hypocitrullinaemia
@ast
The neurogenic weakness, ataxi ...... iciency and hypocitrullinaemia
@en
The neurogenic weakness, ataxi ...... iciency and hypocitrullinaemia
@nl
P1433
P1476
P2093
P2888
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P6179
P698
P356
P1433
P1476
The neurogenic weakness, ataxi ...... iciency and hypocitrullinaemia
@en
P2093
P2888
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P6179
P698