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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2016 | 5 |
2017 | 2 |
2024 | 0 |
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6 results
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Page 1
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 and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database.
Pena LD, van Calcar SC, Hansen J, Edick MJ, Walsh Vockley C, Leslie N, Cameron C, Mohsen AW, Berry SA, Arnold GL, Vockley J; IBEMC.
Pena LD, et al.
Mol Genet Metab. 2016 Aug;118(4):272-81. doi: 10.1016/j.ymgme.2016.05.007. Epub 2016 May 13.
Mol Genet Metab. 2016.
PMID: 27209629
Free PMC article.
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Inborn Errors of Metabolism Collaborative: large-scale collection of data on long-term follow-up for newborn-screened conditions.
Berry SA, Leslie ND, Edick MJ, Hiner S, Justice K, Cameron C.
Berry SA, et al.
Genet Med. 2016 Dec;18(12):1276-1281. doi: 10.1038/gim.2016.57. Epub 2016 May 19.
Genet Med. 2016.
PMID: 27195819
Free PMC article.
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Comparison of Methods of Initial Ascertainment in 58 Cases of Propionic Acidemia Enrolled in the Inborn Errors of Metabolism Information System Reveals Significant Differences in Time to Evaluation and Symptoms at Presentation.
McCrory NM, Edick MJ, Ahmad A, Lipinski S, Scott Schwoerer JA, Zhai S, Justice K, Cameron CA, Berry SA, Pena LD; Inborn Errors of Metabolism Collaborative.
McCrory NM, et al.
J Pediatr. 2017 Jan;180:200-205.e8. doi: 10.1016/j.jpeds.2016.09.050. Epub 2016 Oct 21.
J Pediatr. 2017.
PMID: 27776753
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.
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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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.
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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