Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database

标题
Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database
作者
关键词
Very long chain acyl-CoA dehydrogenase deficiency, Fatty acid oxidation disorder, Newborn screening, Rhabdomyolysis, Inborn errors of metabolism, Natural history
出版物
MOLECULAR GENETICS AND METABOLISM
Volume 118, Issue 4, Pages 272-281
出版商
Elsevier BV
发表日期
2016-05-14
DOI
10.1016/j.ymgme.2016.05.007

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