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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
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2016 | 4 |
2017 | 2 |
2018 | 1 |
2019 | 1 |
2024 | 0 |
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7 results
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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.
Newborn Sequencing in Genomic Medicine and Public Health.
Berg JS, Agrawal PB, Bailey DB Jr, Beggs AH, Brenner SE, Brower AM, Cakici JA, Ceyhan-Birsoy O, Chan K, Chen F, Currier RJ, Dukhovny D, Green RC, Harris-Wai J, Holm IA, Iglesias B, Joseph G, Kingsmore SF, Koenig BA, Kwok PY, Lantos J, Leeder SJ, Lewis MA, McGuire AL, Milko LV, Mooney SD, Parad RB, Pereira S, Petrikin J, Powell BC, Powell CM, Puck JM, Rehm HL, Risch N, Roche M, Shieh JT, Veeraraghavan N, Watson MS, Willig L, Yu TW, Urv T, Wise AL.
Berg JS, et al.
Pediatrics. 2017 Feb;139(2):e20162252. doi: 10.1542/peds.2016-2252. Epub 2017 Jan 17.
Pediatrics. 2017.
PMID: 28096516
Free PMC article.
Clinical Trial.
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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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The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants.
Wasserstein MP, Caggana M, Bailey SM, Desnick RJ, Edelmann L, Estrella L, Holzman I, Kelly NR, Kornreich R, Kupchik SG, Martin M, Nafday SM, Wasserman R, Yang A, Yu C, Orsini JJ.
Wasserstein MP, et al.
Genet Med. 2019 Mar;21(3):631-640. doi: 10.1038/s41436-018-0129-y. Epub 2018 Aug 10.
Genet Med. 2019.
PMID: 30093709
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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