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221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative.
Bentler K, Zhai S, Elsbecker SA, Arnold GL, Burton BK, Vockley J, Cameron CA, Hiner SJ, Edick MJ, Berry SA; Inborn Errors of Metabolism Collaborative. Bentler K, et al. Among authors: hiner sj. Mol Genet Metab. 2016 Sep;119(1-2):75-82. doi: 10.1016/j.ymgme.2016.07.002. Epub 2016 Jul 15. Mol Genet Metab. 2016. PMID: 27477829 Free PMC article.
Outcomes of cases with 3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency - Report from the Inborn Errors of Metabolism Information System.
Forsyth R, Vockley CW, Edick MJ, Cameron CA, Hiner SJ, Berry SA, Vockley J, Arnold GL; Inborn Errors of Metabolism Collaborative. Forsyth R, et al. Among authors: hiner sj. Mol Genet Metab. 2016 May;118(1):15-20. doi: 10.1016/j.ymgme.2016.02.002. Epub 2016 Feb 15. Mol Genet Metab. 2016. PMID: 27033733 Free PMC article.
An Exploration of Genetic Test Utilization, Genetic Counseling, and Consanguinity within the Inborn Errors of Metabolism Collaborative (IBEMC).
Stein QP, Vockley CW, Edick MJ, Zhai S, Hiner SJ, Loman RS, Davis-Keppen L, Zuck TA, Cameron CA, Berry SA; Inborn Errors of Metabolism Collaborative. Stein QP, et al. Among authors: hiner sj. J Genet Couns. 2017 Dec;26(6):1238-1243. doi: 10.1007/s10897-017-0100-0. Epub 2017 Apr 27. J Genet Couns. 2017. PMID: 28451876 Free PMC article.