Glutathione metabolism in cobalamin deficiency type C (cblC).
about
Protein glutathionylation in cardiovascular diseasesMass Spectrometry-Based Metabolomic and Proteomic Strategies in Organic AcidemiasDegree of glutathione deficiency and redox imbalance depend on subtype of mitochondrial disease and clinical status.Pathogenic mutations differentially affect the catalytic activities of the human B12-processing chaperone CblC and increase futile redox cycling.A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 2: cobalamin C deficiencyGuidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency.Clinical phenotype, biochemical profile, and treatment in 19 patients with arginase 1 deficiency.Glutathione as a Redox Biomarker in Mitochondrial Disease-Implications for Therapy.Cysteamine revisited: repair of arginine to cysteine mutations.Cobalamin Protection against Oxidative Stress in the Acidophilic Iron-oxidizing Bacterium Leptospirillum Group II CF-1.Reversible pulmonary arterial hypertension in cobalamin-dependent cobalamin C disease due to a novel mutation in the MMACHC gene.Clinical presentation and outcome in a series of 88 patients with the cblC defect.Frataxin silencing alters microtubule stability in motor neurons: implications for Friedreich's ataxia.Pitfalls in the quantitative imaging of glutathione in living cells.Altered Redox Homeostasis in Branched-Chain Amino Acid Disorders, Organic Acidurias, and Homocystinuria.
P2860
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P2860
Glutathione metabolism in cobalamin deficiency type C (cblC).
description
2013 nî lūn-bûn
@nan
2013年の論文
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2013年学术文章
@wuu
2013年学术文章
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2013年学术文章
@zh-hans
2013年学术文章
@zh-my
2013年学术文章
@zh-sg
2013年學術文章
@yue
2013年學術文章
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2013年學術文章
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name
Glutathione metabolism in cobalamin deficiency type C (cblC).
@en
Glutathione metabolism in cobalamin deficiency type C
@nl
type
label
Glutathione metabolism in cobalamin deficiency type C (cblC).
@en
Glutathione metabolism in cobalamin deficiency type C
@nl
prefLabel
Glutathione metabolism in cobalamin deficiency type C (cblC).
@en
Glutathione metabolism in cobalamin deficiency type C
@nl
P2860
P50
P1476
Glutathione metabolism in cobalamin deficiency type C (cblC).
@en
P2093
Diego Martinelli
Sara Boenzi
P2860
P2888
P304
P356
10.1007/S10545-013-9605-3
P50
P577
2013-04-09T00:00:00Z