Disease Information

An Exploration of Genetic Test Utilization, Genetic Counseling, and Consanguinity within the Inborn Errors of Metabolism Collaborative (IBEMC)

mwilliam2024-10-03T07:13:52-04:00January 9th, 2023|

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

mwilliam2024-10-03T07:14:13-04:00January 9th, 2023|

Insurance coverage of medical foods for treatment of inherited metabolic disorders

mwilliam2024-10-03T07:14:50-04:00December 2nd, 2022|

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project

mwilliam2024-10-03T07:15:03-04:00December 2nd, 2022|

Inborn Errors of Metabolism Collaborative: large-scale collection of data on long-term follow-up for newborn-screened conditions

mwilliam2024-10-03T07:15:21-04:00December 2nd, 2022|

Outcomes of cases with 3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency – Report from the Inborn Errors of Metabolism Information System

mwilliam2024-10-03T07:15:34-04:00December 2nd, 2022|

Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database

mwilliam2024-10-03T07:15:46-04:00December 2nd, 2022|

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

mwilliam2024-10-03T07:15:58-04:00December 2nd, 2022|

An Exploration of Genetic Test Utilization, Genetic Counseling, and Consanguinity within the Inborn Errors of Metabolism Collaborative (IBEMC)

mwilliam2024-10-03T07:16:07-04:00December 2nd, 2022|

221 Newborn-Screened Neonates With Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency: Findings From the Inborn Errors of Metabolism Collaborative

mwilliam2023-01-09T12:54:36-05:00December 2nd, 2022|