Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database
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- 作者：Loren D.M. Penaa ; loren.pena@duke.edu" class="auth_mail" title="E-mail the corresponding author ; Sandra C. van Calcarb ; Joyanna Hansenb ; Mathew J. Edickc ; Cate Walsh Vockleyd ; Nancy Lesliee ; Cynthia Cameronc ; Al-Walid Mohsend ; Susan A. Berryf ; Georgianne L. Arnoldg ; Jerry Vockleyd ; for the IBEMC1
- 关键词：VLCAD ; very long chain acyl-CoA dehydrogenase ; NBS ; newborn screening ; MCT ; medium chain triglycerides ; IBEM-IS ; Inborn Errors of Metabolism Information System ; RUSP ; Recommended Uniform Screening Panel ; CK ; creatine kinase ; HELLP syndrome ; hemolysis ; elevated liver enzymes ; or low platelets syndrome
- 刊名：Molecular Genetics and Metabolism
- 出版年：2016
- 出版时间：August 2016
- 年：2016
- 卷：118
- 期：4
- 页码：272-281
- 全文大小：805 K
文摘
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We present outcomes data for 52 individuals with VLCAD deficiency followed through the Inborn Errors of Metabolism – Information System (IBEM-IS) database.
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This is a large cohortwith longitudinal follow up and the data presented will enhance our knowledge of the condition.