Maternal acute fatty liver of pregnancy associated with fetal trifunctional protein deficiency: molecular characterization of a novel maternal mutant allele
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 pregnancyPig heart short chain L-3-hydroxyacyl-CoA dehydrogenase revisited: Sequence analysis and crystal structure determinationPurification, crystallization and preliminary crystallographic analysis of 3-hydroxyacyl-CoA dehydrogenase fromCaenorhabditis elegansImpact 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 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 reviewMutations in long-chain 3-hydroxyacyl coenzyme a dehydrogenase are associated with placental maternal floor infarction/massive perivillous fibrin depositionAcute Fatty Liver Disease of Pregnancy: Updates in Pathogenesis, Diagnosis, and Management.How we manage thrombotic microangiopathies in pregnancy.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.Inborn errors of mitochondrial fatty acid oxidation.Absence of the G1528C (E474Q) mutation in the alpha-subunit of the mitochondrial trifunctional protein in women with acute fatty liver of pregnancy.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.Acute fatty liver of pregnancy: an update on pathogenesis and clinical implications.Acute fatty liver of pregnancy associated with fetal mitochondrial trifunctional protein deficiency.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.Post-mortem analysis for two prevalent beta-oxidation mutations in sudden infant death.
P2860
Q24564364-10B9EFA5-3E85-40F0-AEDE-2AFC4CA4B87CQ24596588-B7BCAF42-6939-40C5-A3B2-5F7CD53248ACQ24616340-E32808A5-BD2F-4DB8-B05C-72CEC8DA9987Q24649161-182EC657-1382-41D3-B5CE-F4FD78292E80Q27620271-FC0E36C8-E0BD-4884-BCDC-85A30D77545CQ27678243-2FDBCFE8-2537-41CC-8CCE-5AD8C9365804Q28085372-2AE6DC26-B1C0-41DC-B476-3E9B4F4593DCQ28142066-6A29FC10-E4C0-4573-B93F-63BA5A7899FAQ28186172-2BB5F791-2C39-479E-B98A-31E5D7552EF4Q28214659-7902C65C-8ECB-414E-9A9D-7E8DA03FE0ECQ28269874-FFD656A3-F126-4DFD-8BD5-D6222A1550FBQ30235293-2A99ED1E-6B9A-4F75-B140-CDEC4BF400C4Q33431084-CB3D9CC1-CD43-4363-9392-C39ACE368213Q33617715-5F5F6080-2A01-44EE-8820-EA49BBB76B7CQ33875702-7AFCF946-2E93-4A60-AA4D-3213DBC793B5Q34616173-F2339E94-7D06-4B8E-9DDD-5A7BE8643A72Q37221673-E3D3FAAF-DA37-4260-9068-E1B31E022D50Q37253047-B07EABD0-DFC9-48CC-B98B-C881123CB634Q42726016-2E2D460D-A59A-4993-9839-B208481CC9D9Q45350124-8AEC2A66-7FEA-44D2-8B07-0BC88976784CQ46337853-3E3515FF-76CE-43BC-8BEB-E1BC8BF43424Q55046196-8C1BD2A3-C8F8-454A-9313-12156084FD27
P2860
Maternal acute fatty liver of pregnancy associated with fetal trifunctional protein deficiency: molecular characterization of a novel maternal mutant allele
description
1996 nî lūn-bûn
@nan
1996 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
1996 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
1996年の論文
@ja
1996年論文
@yue
1996年論文
@zh-hant
1996年論文
@zh-hk
1996年論文
@zh-mo
1996年論文
@zh-tw
1996年论文
@wuu
name
Maternal acute fatty liver of ...... a novel maternal mutant allele
@ast
Maternal acute fatty liver of ...... a novel maternal mutant allele
@en
Maternal acute fatty liver of ...... a novel maternal mutant allele
@nl
type
label
Maternal acute fatty liver of ...... a novel maternal mutant allele
@ast
Maternal acute fatty liver of ...... a novel maternal mutant allele
@en
Maternal acute fatty liver of ...... a novel maternal mutant allele
@nl
prefLabel
Maternal acute fatty liver of ...... a novel maternal mutant allele
@ast
Maternal acute fatty liver of ...... a novel maternal mutant allele
@en
Maternal acute fatty liver of ...... a novel maternal mutant allele
@nl
P2093
P2860
P1433
P1476
Maternal acute fatty liver of ...... a novel maternal mutant allele
@en
P2093
A W Strauss
C K Powell
J D Isaacs
M J Bennett
P2860
P356
10.1203/00006450-199609000-00005
P407
P577
1996-09-01T00:00:00Z
P6179
1064208513