Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database
about
Long-term outcome of expanded newborn screening at Boston children's hospital: benefits and challenges in defining true disease.Four Years' Experience in the Diagnosis of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency in Infants Detected in Three Spanish Newborn Screening Centers.Clinical and genetic characteristics of patients with fatty acid oxidation disorders identified by newborn screening.Treatable massive pericardial effusion and hypertrophic cardiomyopathy in an infant with a novel homozygous ACADVL mutation: A case report.
P2860
Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database
description
2016 nî lūn-bûn
@nan
2016年の論文
@ja
2016年論文
@yue
2016年論文
@zh-hant
2016年論文
@zh-hk
2016年論文
@zh-mo
2016年論文
@zh-tw
2016年论文
@wuu
2016年论文
@zh
2016年论文
@zh-cn
name
Outcomes and genotype-phenotyp ...... rolled in the IBEM-IS database
@en
Outcomes and genotype-phenotyp ...... rolled in the IBEM-IS database
@nl
type
label
Outcomes and genotype-phenotyp ...... rolled in the IBEM-IS database
@en
Outcomes and genotype-phenotyp ...... rolled in the IBEM-IS database
@nl
prefLabel
Outcomes and genotype-phenotyp ...... rolled in the IBEM-IS database
@en
Outcomes and genotype-phenotyp ...... rolled in the IBEM-IS database
@nl
P2093
P2860
P1476
Outcomes and genotype-phenotyp ...... rolled in the IBEM-IS database
@en
P2093
Cate Walsh Vockley
Cynthia Cameron
Georgianne L Arnold
Jerry Vockley
Joyanna Hansen
Loren D M Pena
Mathew J Edick
Nancy Leslie
Sandra C van Calcar
P2860
P304
P356
10.1016/J.YMGME.2016.05.007
P577
2016-05-13T00:00:00Z