Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to beta-subunit mutations
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A compound heterozygous mutation in HADHB gene causes an axonal Charcot-Marie-tooth diseaseFetal fatty acid oxidation disorders, their effect on maternal health and neonatal outcome: impact of expanded newborn screening on their diagnosis and managementCombined defects in oxidative phosphorylation and fatty acid β-oxidation in mitochondrial diseaseObservations regarding retinopathy in mitochondrial trifunctional protein deficienciesGeneral mitochondrial trifunctional protein (TFP) deficiency as a result of either alpha- or beta-subunit mutations exhibits similar phenotypes because mutations in either subunit alter TFP complex expression and subunit turnoverEstrogen receptor alpha interacts with mitochondrial protein HADHB and affects beta-oxidation activityWolcott-Rallison syndrome with 3-hydroxydicarboxylic aciduria and lethal outcomeEFFECT OF FEEDING, EXERCISE AND GENOTYPE ON PLASMA 3-HYDROXYACYLCARNITINES IN CHILDREN WITH LCHAD DEFICIENCYEffects and action mechanisms of berberine and Rhizoma coptidis on gut microbes and obesity in high-fat diet-fed C57BL/6J miceMitochondrial Trifunctional Protein Defects: Clinical Implications and Therapeutic ApproachesCharacterization of human septic sera induced gene expression modulation in human myocytes.Effects of higher dietary protein intake on energy balance and metabolic control in children with long-chain 3-hydroxy acyl-CoA dehydrogenase (LCHAD) or trifunctional protein (TFP) deficiency.Mitochondrial trifunctional protein deficiency due to HADHB gene mutation in a Chinese family.Effect of optimal dietary therapy upon visual function in children with long-chain 3-hydroxyacyl CoA dehydrogenase and trifunctional protein deficiency.Metabolic control during exercise with and without medium-chain triglycerides (MCT) in children with long-chain 3-hydroxy acyl-CoA dehydrogenase (LCHAD) or trifunctional protein (TFP) deficiency.Pathophysiology of fatty acid oxidation disorders and resultant phenotypic variability.Rare diseases in clinical endocrinology: a taxonomic classification system.Peripheral Neuropathy, Episodic Rhabdomyolysis, and Hypoparathyroidism in a Patient with Mitochondrial Trifunctional Protein Deficiency.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.High prevalence of carriers of variant c.1528G>C of HADHA gene causing long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) in the population of adult Kashubians from North Poland.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.Adaptation of proteomic techniques for the identification and characterization of protein species from murine heart.Noncompaction in mitochondrial trifunctional protein deficiency due to a HADHB mutation.Cryo-EM structure of human mitochondrial trifunctional protein
P2860
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P2860
Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to beta-subunit mutations
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
Molecular and phenotypic heter ...... due to beta-subunit mutations
@ast
Molecular and phenotypic heter ...... due to beta-subunit mutations
@en
Molecular and phenotypic heter ...... due to beta-subunit mutations
@nl
type
label
Molecular and phenotypic heter ...... due to beta-subunit mutations
@ast
Molecular and phenotypic heter ...... due to beta-subunit mutations
@en
Molecular and phenotypic heter ...... due to beta-subunit mutations
@nl
prefLabel
Molecular and phenotypic heter ...... due to beta-subunit mutations
@ast
Molecular and phenotypic heter ...... due to beta-subunit mutations
@en
Molecular and phenotypic heter ...... due to beta-subunit mutations
@nl
P2093
P356
P1433
P1476
Molecular and phenotypic heter ...... due to beta-subunit mutations
@en
P2093
Arnold W Strauss
Michael J Bennett
Ute Spiekerkoetter
Zaza Khuchua
P304
P356
10.1002/HUMU.10211
P407
P577
2003-06-01T00:00:00Z