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221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative.
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.
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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.
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