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

DOI

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.

Identifier
DOI https://doi.org/10.34894/LEWTBK
Metadata Access https://dataverse.nl/oai?verb=GetRecord&metadataPrefix=oai_datacite&identifier=doi:10.34894/LEWTBK
Provenance
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)
Representation
Resource Type Dataset
Format text/csv; application/pdf
Size 69464; 130269
Version 1.0
Discipline Life Sciences; Medicine