A novel mutation in medium chain acyl-CoA dehydrogenase causes sudden neonatal death.
Author:
Publisher
American Society for Clinical Investigation
Subject
General Medicine
Cited by 37 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Assessment of candidate variants causative of inborn metabolic diseases in SUDI cases in South Africa, and a case report;International Journal of Legal Medicine;2020-06-18
2. Inherited Metabolic Disease and Sudden Unexplained Death in Infancy and Childhood: Pathophysiology;Investigation of Sudden Infant Death Syndrome;2019-06-13
3. MCAD-Deficiency with Severe Neonatal Onset, Fatal Outcome and Normal Acylcarnitine Profile;International Journal of Neonatal Screening;2017-08-17
4. Nutritional Support in Inborn Errors of Metabolism;Nutrition in Infancy;2012-11-06
5. Characterization of the molecular spectrum of Medium-Chain Acyl-CoA Dehydrogenase Deficiency in a Greek newborns cohort: Identification of a novel variant;Clinical Biochemistry;2012-10
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