Short-chain Acyl-CoA dehydrogenase deficiency: studies in a large family adding to the complexity of the disorder
about
Fetal fatty acid oxidation disorders, their effect on maternal health and neonatal outcome: impact of expanded newborn screening on their diagnosis and managementFlavin adenine dinucleotide status and the effects of high-dose riboflavin treatment in short-chain acyl-CoA dehydrogenase deficiencyShort-chain acyl-coenzyme A dehydrogenase deficiencyFollow-up of patients with short-chain acyl-CoA dehydrogenase and isobutyryl-CoA dehydrogenase deficiencies identified through newborn screening: one center’s experienceBrain imaging studies of appetite in the context of obesity and the menstrual cycle.Clinical aspects of short-chain acyl-CoA dehydrogenase deficiency.Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: an examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clinical symptomsMitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway.A Rare Case of Short-Chain Acyl-COA Dehydrogenase Deficiency: The Apparent Rarity of the Disorder Results in Under Diagnosis.Diabetes and obesity-related genes and the risk of neural tube defects in the national birth defects prevention study.Compound heterozygous mutations of ACADS gene in newborn with short chain acyl-CoA dehydrogenase deficiency: case report and literatures review.Role of micronutrients in the periconceptional period.Application of high-throughput sequencing for studying genomic variations in congenital heart disease.Short-chain acyl-CoA dehydrogenase deficiency: from gene to cell pathology and possible disease mechanisms.A case report of short-chain acyl-CoA dehydrogenase deficiency (SCADD).Toxic response caused by a misfolding variant of the mitochondrial protein short-chain acyl-CoA dehydrogenase.Maternal body mass index and lifestyle exposures and the risk of bilateral renal agenesis or hypoplasia: the National Birth Defects Prevention Study.Obesity subtypes and risk of spontaneous versus medically indicated preterm births in singletons and twins.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.Quantitative acylcarnitine profiling in peripheral blood mononuclear cells using in vitro loading with palmitic and 2-oxoadipic acids: biochemical confirmation of fatty acid oxidation and organic acid disorders.Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency.
P2860
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P2860
Short-chain Acyl-CoA dehydrogenase deficiency: studies in a large family adding to the complexity of the disorder
description
2003 nî lūn-bûn
@nan
2003 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի նոյեմբերին 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
Short-chain Acyl-CoA dehydroge ...... the complexity of the disorder
@ast
Short-chain Acyl-CoA dehydroge ...... the complexity of the disorder
@en
Short-chain Acyl-CoA dehydroge ...... the complexity of the disorder
@nl
type
label
Short-chain Acyl-CoA dehydroge ...... the complexity of the disorder
@ast
Short-chain Acyl-CoA dehydroge ...... the complexity of the disorder
@en
Short-chain Acyl-CoA dehydroge ...... the complexity of the disorder
@nl
prefLabel
Short-chain Acyl-CoA dehydroge ...... the complexity of the disorder
@ast
Short-chain Acyl-CoA dehydroge ...... the complexity of the disorder
@en
Short-chain Acyl-CoA dehydroge ...... the complexity of the disorder
@nl
P2093
P356
P1433
P1476
Short-chain Acyl-CoA dehydroge ...... the complexity of the disorder
@en
P2093
Frits A Wijburg
Hans R Waterham
Levinus A Bok
Marinus Duran
Morten J Corydon
Niels Gregersen
Peter Vreken
P304
P356
10.1542/PEDS.112.5.1152
P407
P577
2003-11-01T00:00:00Z