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Data · dataset · 2023

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

Listed in IISH Dataverse

Implementation of long-chain fatty acid oxidation defects (LCFAOD) in newborn screening (NBS) programs allows for pre-symptomatic diagnosis and treatment.

Description

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.

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Catalogue records · 1

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Provenance · 1 source records, 10 field assertions
SourceKeyLast seenRaw
IISH Dataversedoi:10.34894/LEWTBK13 d agoJSON v1
FieldAssertionExtractorEvidence
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concepts[field].local:field:life-sciencesmapping · datasets iisg amsterdamconnector:datasets_iisg_amsterdam@1.0.0/subjects
concepts[field].local:field:medicine-healthmapping · datasets iisg amsterdamconnector:datasets_iisg_amsterdam@1.0.0/subjects
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