Apply to Use the LPDR


                Types of Research Projects                                                                                 Type of Data 



                   Cases by Cohort                                                                                            Cohorts by US State


Cases by Disease Category

Cases by Condition 


Publications Using Data Deposited in LPDR

 1) 221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative. Bentler K, et al. Mol Genet Metab. 2016 Sep;119(1-2):75-82. doi: 10.1016/j.ymgme.2016.07.002. Epub 2016 Jul 15. PMID: 27477829

2) Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database. 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. PMID:27209629;

3) Inborn Errors of Metabolism Collaborative: large-scale collection of data on long-term follow-up for newborn-screened conditions. Berry SA, et al. Genet Med. 2016 May 19. doi: 10.1038/gim.2016.57. [Epub ahead of print] PMID: 27195819

4) Outcomes of cases with 3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency - Report from the Inborn Errors of Metabolism Information System. 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. PMID: 27033733