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Long-term monitoring of fatty acid oxidation defects - Results from a MetabERN survey

2023-07-19

Abstract excerpt

<title>Abstract</title> <p><bold>Background</bold> 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 v...

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Literature Corpus work
614eec9f-abbc-54a3-bef1-23c3b4a3a6b8
DOI
10.21203/rs.3.rs-2912805/v1
Open publication

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Long-term monitoring of fatty acid oxidation defects - Results from a MetabERN surveyDOI 10.21203/rs.3.rs-2912805/v1
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