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