Mild trifunctional protein deficiency is associated with progressive neuropathy and myopathy and suggests a novel genotype-phenotype correlation

Mild trifunctional protein deficiency is associated with progressive neuropathy and myopathy and suggests a novel genotype-phenotype correlation

Item
http://www.wikidata.org/entity/Q24564364
The trifunctional protein mediates thyroid hormone receptor-dependent stimulation of mitochondria metabolismMetabolic disease in the fetus predisposes to maternal hepatic complications of pregnancyGeneral 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 turnoverLong-chain L-3-hydroxyacyl-coenzyme a dehydrogenase deficiency: a molecular and biochemical reviewLack of mitochondrial trifunctional protein in mice causes neonatal hypoglycemia and sudden deathGermline deletion of pantothenate kinases 1 and 2 reveals the key roles for CoA in postnatal metabolismMitochondrial Trifunctional Protein Defects: Clinical Implications and Therapeutic ApproachesInborn errors of mitochondrial fatty acid oxidation.Pathophysiology of fatty acid oxidation disorders and resultant phenotypic variability.Structural basis for channelling mechanism of a fatty acid beta-oxidation multienzyme complexAcute fatty liver of pregnancy: an update on pathogenesis and clinical implications.Analysis of 3-hydroxydodecanedioic acid for studies of fatty acid metabolic disorders: preparation of stable isotope standards.Non-invasive test using palmitate in patients with suspected fatty acid oxidation defects: disease-specific acylcarnitine patterns can help to establish the diagnosis.
P2860

Mild trifunctional protein deficiency is associated with progressive neuropathy and myopathy and suggests a novel genotype-phenotype correlation

Item
http://www.wikidata.org/entity/Q24564364
description
1998 nî lūn-bûn
@nan
1998 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年学术文章
@wuu
1998年学术文章
@zh-cn
1998年学术文章
@zh-hans
1998年学术文章
@zh-my
1998年学术文章
@zh-sg
1998年學術文章
@yue
name
Mild trifunctional protein def ...... genotype-phenotype correlation
@ast
Mild trifunctional protein def ...... genotype-phenotype correlation
@en
Mild trifunctional protein def ...... genotype-phenotype correlation
@nl
type
label
Mild trifunctional protein def ...... genotype-phenotype correlation
@ast
Mild trifunctional protein def ...... genotype-phenotype correlation
@en
Mild trifunctional protein def ...... genotype-phenotype correlation
@nl
prefLabel
Mild trifunctional protein def ...... genotype-phenotype correlation
@ast
Mild trifunctional protein def ...... genotype-phenotype correlation
@en
Mild trifunctional protein def ...... genotype-phenotype correlation
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P698
P932
P356
P1433
P1476
Mild trifunctional protein def ...... genotype-phenotype correlation
@en
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P698
P932