The molecular basis of pediatric long chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with maternal acute fatty liver of pregnancy
about
Mild trifunctional protein deficiency is associated with progressive neuropathy and myopathy and suggests a novel genotype-phenotype correlationLiver diseases in pregnancy: diseases unique to pregnancyFetal fatty acid oxidation disorders, their effect on maternal health and neonatal outcome: impact of expanded newborn screening on their diagnosis and managementAcute fatty liver of pregnancyGlutamate 170 of human l-3-hydroxyacyl-CoA dehydrogenase is required for proper orientation of the catalytic histidine and structural integrity of the enzymeImpact of fatty acid oxidation disorders in child neurology: from Reye syndrome to Pandora's boxMetabolic disease in the fetus predisposes to maternal hepatic complications of pregnancyLong-chain L-3-hydroxyacyl-coenzyme a dehydrogenase deficiency: a molecular and biochemical reviewMutations in long-chain 3-hydroxyacyl coenzyme a dehydrogenase are associated with placental maternal floor infarction/massive perivillous fibrin depositionCommon missense mutation G1528C in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Characterization and expression of the mutant protein, mutation analysis on genomic DNA and chromosomal localization of the mitochondrial trifunctional proteinMaternal acute fatty liver of pregnancy associated with fetal trifunctional protein deficiency: molecular characterization of a novel maternal mutant alleleDisorders of phospholipid metabolism: an emerging class of mitochondrial disease due to defects in nuclear genesLack of mitochondrial trifunctional protein in mice causes neonatal hypoglycemia and sudden deathMitochondrial Trifunctional Protein Defects: Clinical Implications and Therapeutic ApproachesAcute Fatty Liver Disease of Pregnancy: Updates in Pathogenesis, Diagnosis, and Management.Optimal dietary therapy of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.Inborn errors of mitochondrial fatty acid oxidation.Acute fatty liver of pregnancy associated with severe acute pancreatitis: A case report.Absence of the G1528C (E474Q) mutation in the alpha-subunit of the mitochondrial trifunctional protein in women with acute fatty liver of pregnancy.Prevalence of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency in Estonia.Growth in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency.Molecular mechanisms of alcoholic fatty liverDocosahexaenoic acid and retinal function in children with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.Dietary management of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD). A case report and survey.Effect of optimal dietary therapy upon visual function in children with long-chain 3-hydroxyacyl CoA dehydrogenase and trifunctional protein deficiency.Liver function test and pregnancy.Next generation sequence analysis for mitochondrial disordersHighly active antiretroviral therapy does not affect mitochondrial beta-oxidation of fatty acids: an in vitro study in fibroblasts.Mammalian mitochondrial beta-oxidation.Molecular characterization of mitochondrial trifunctional protein deficiency: formation of the enzyme complex is important for stabilization of both alpha- and beta-subunitsOutcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS databaseAcute fatty liver of pregnancy: an update on pathogenesis and clinical implications.Ectopic expression of alpha1,6 fucosyltransferase in mice causes steatosis in the liver and kidney accompanied by a modification of lysosomal acid lipase.No mutation was found in the alpha-subunit of the mitochondrial tri-functional protein in one patient with severe acute fatty liver of pregnancy and her relatives.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.Mitochondrial trifunctional protein deficiency: a rare cause of adult-onset rhabdomyolysis.Guidelines for the use of antiretroviral agents in HIV-infected adults and adolescents. February 5, 2001.Impact of pregnancy on inborn errors of metabolism
P2860
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P2860
The molecular basis of pediatric long chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with maternal acute fatty liver of pregnancy
description
1995 nî lūn-bûn
@nan
1995 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1995 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
name
The molecular basis of pediatr ...... acute fatty liver of pregnancy
@ast
The molecular basis of pediatr ...... acute fatty liver of pregnancy
@en
The molecular basis of pediatr ...... acute fatty liver of pregnancy
@nl
type
label
The molecular basis of pediatr ...... acute fatty liver of pregnancy
@ast
The molecular basis of pediatr ...... acute fatty liver of pregnancy
@en
The molecular basis of pediatr ...... acute fatty liver of pregnancy
@nl
prefLabel
The molecular basis of pediatr ...... acute fatty liver of pregnancy
@ast
The molecular basis of pediatr ...... acute fatty liver of pregnancy
@en
The molecular basis of pediatr ...... acute fatty liver of pregnancy
@nl
P2093
P2860
P356
P1476
The molecular basis of pediatr ...... acute fatty liver of pregnancy
@en
P2093
A W Strauss
C K Powell
J C Brackett
M J Bennett
P2860
P304
P356
10.1073/PNAS.92.3.841
P407
P577
1995-01-01T00:00:00Z