Mitochondrial trifunctional protein deficiency: a severe fatty acid oxidation disorder with cardiac and neurologic involvement

Mitochondrial trifunctional protein deficiency: a severe fatty acid oxidation disorder with cardiac and neurologic involvement

Item
http://www.wikidata.org/entity/Q28184180
A compound heterozygous mutation in HADHB gene causes an axonal Charcot-Marie-tooth diseaseDeficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.Inborn errors of energy metabolism associated with myopathies.Neuropsychological outcomes in fatty acid oxidation disorders: 85 cases detected by newborn screeningCardiolipin remodeling by ALCAT1 links oxidative stress and mitochondrial dysfunction to obesity.Altered Energetics of Exercise Explain Risk of Rhabdomyolysis in Very Long-Chain Acyl-CoA Dehydrogenase Deficiency.Metabolomics-assisted proteomics identifies succinylation and SIRT5 as important regulators of cardiac function.Proteomic analysis of physiological versus pathological cardiac remodeling in animal models expressing mutations in myosin essential light chains.Peripheral neuropathy associated with mitochondrial disease in children.Genetic axonal neuropathies and neuronopathies of pre-natal and infantile onset.Deregulation of mitochondrial functions provoked by long-chain fatty acid accumulating in long-chain 3-hydroxyacyl-CoA dehydrogenase and mitochondrial permeability transition deficiencies in rat heart--mitochondrial permeability transition pore openNecrotizing enterocolitis and respiratory distress syndrome as first clinical presentation of mitochondrial trifunctional protein deficiency.Fatty acid oxidation: systems analysis and applications.Mitochondrial Trifunctional Protein Deficiency: Severe Cardiomyopathy and Cardiac Transplantation.Clinical and genetic characteristics of patients with fatty acid oxidation disorders identified by newborn screening.Clinical and molecular investigation of 14 Japanese patients with complete TFP deficiency: a comparison with Caucasian cases.Hypertrophic cardiomyopathy in mitochondrial disorders: description of an uncommon clinical case.
P2860

Mitochondrial trifunctional protein deficiency: a severe fatty acid oxidation disorder with cardiac and neurologic involvement

Item
http://www.wikidata.org/entity/Q28184180
description
2003 nî lūn-bûn
@nan
2003 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
Mitochondrial trifunctional pr ...... iac and neurologic involvement
@ast
Mitochondrial trifunctional pr ...... iac and neurologic involvement
@en
Mitochondrial trifunctional pr ...... iac and neurologic involvement
@nl
type
label
Mitochondrial trifunctional pr ...... iac and neurologic involvement
@ast
Mitochondrial trifunctional pr ...... iac and neurologic involvement
@en
Mitochondrial trifunctional pr ...... iac and neurologic involvement
@nl
prefLabel
Mitochondrial trifunctional pr ...... iac and neurologic involvement
@ast
Mitochondrial trifunctional pr ...... iac and neurologic involvement
@en
Mitochondrial trifunctional pr ...... iac and neurologic involvement
@nl
P1433
P1476
P2093
P304
P31
P356
P407
P433
P478
P50
P577
P698
P921
P356
P1433
P1476
Mitochondrial trifunctional pr ...... iac and neurologic involvement
@en
P2093
P304
P31
P356
P407
P433
P478
P50
P577
P698
P921