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Clinical characteristics of primary carnitine deficiency: A structured review using a case-by-case approach

Research output: Contribution to journal › Review article › Academic › peer-review

DOI

https://doi.org/10.1002/jimd.12475
Final published version

Original language	English
Pages (from-to)	386-405
Number of pages	20
Journal	Journal of inherited metabolic disease
Volume	45
Issue number	3
Early online date	2022
DOIs	https://doi.org/10.1002/jimd.12475
Publication status	Published - May 2022

Research areas

carnitine, clinical characteristics, organic cation transporter novel 2, phenotyping, primary carnitine deficiency, screening

ID: 21646164