Evaluation of newborn screening for medium chain acyl-CoA dehydrogenase deficiency in 275 000 babies
Author:
Publisher
BMJ
Subject
Obstetrics and Gynaecology,General Medicine,Pediatrics, Perinatology, and Child Health
Cited by 81 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. 221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative;Molecular Genetics and Metabolism;2016-09
2. The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: Report from the SSIEM Adult Metabolic Physicians Group;JIMD Reports;2015
3. Synthesis framework estimating prevalence of MCADD and sensitivity of newborn screening programme in the absence of direct evidence;Journal of Clinical Epidemiology;2014-10
4. Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency;Orphanet Journal of Rare Diseases;2013
5. Infusionstherapie und Ernährung bei angeborenen Stoffwechselstörungen;Ernährungsmedizin Pädiatrie;2012-12-19
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