Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States
about
Targeted Next Generation Sequencing in Patients with Inborn Errors of MetabolismOutcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS databaseNon-invasive test using palmitate in patients with suspected fatty acid oxidation defects: disease-specific acylcarnitine patterns can help to establish the diagnosis.Clinical, Biochemical, and Molecular Features in 37 Saudi Patients with Very Long Chain Acyl CoA Dehydrogenase Deficiency.A Nonsense Variant in the ACADVL Gene in German Hunting Terrier Dogs with Exercise Induced Metabolic Myopathy.Treatable massive pericardial effusion and hypertrophic cardiomyopathy in an infant with a novel homozygous ACADVL mutation: A case report.
P2860
Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
2015年论文
@zh
2015年论文
@zh-cn
name
Recurrent ACADVL molecular fin ...... eficiency in the United States
@ast
Recurrent ACADVL molecular fin ...... eficiency in the United States
@en
type
label
Recurrent ACADVL molecular fin ...... eficiency in the United States
@ast
Recurrent ACADVL molecular fin ...... eficiency in the United States
@en
prefLabel
Recurrent ACADVL molecular fin ...... eficiency in the United States
@ast
Recurrent ACADVL molecular fin ...... eficiency in the United States
@en
P2093
P2860
P50
P1476
Recurrent ACADVL molecular fin ...... eficiency in the United States
@en
P2093
David P Bick
Edward J Lose
James B Gibson
Lee-Jun C Wong
Lindsay C Burrage
Marcus J Miller
Meghan E Strenk
V Reid Sutton
Victor Wei Zhang
William J Craigen
P2860
P304
P356
10.1016/J.YMGME.2015.08.011
P577
2015-09-02T00:00:00Z