Replication Data for: Long-term monitoring of fatty acid oxidation defects - Results from a MetabERN survey


Implementation of long-chain fatty acid oxidation defects (LCFAOD) in newborn screening (NBS) programs allows for pre-symptomatic diagnosis and treatment. The long-term natural history of NBS LCFAOD patients is largely unknown and may differ from clinically diagnosed pre-NBS patients. This complicates long-term monitoring of LCFAOD and may cause high monitoring variability. To gain insight in current clinical practice, we performed a web-based questionnaire among all metabolic members of the European Reference Network for Hereditary Metabolic Disorders (MetabERN). Here, the questionnaire and answers per respondent are reported.

Metadata Access
Creator Marit Schwantje ORCID logo
Publisher DataverseNL
Contributor data management; Marit Schwantje; Sabine Fuchs
Publication Year 2023
Rights info:eu-repo/semantics/restrictedAccess
OpenAccess false
Contact data management (UMC Utrecht); Marit Schwantje (UMC Utrecht); Sabine Fuchs (UMC Utrecht)
Resource Type Dataset
Format text/csv; application/pdf
Size 69464; 130269
Version 1.0
Discipline Life Sciences; Medicine