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1-2 of 2 results for SLC22A5 mutation

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Select article: Maternal Primary Carnitine Deficiency and a Novel Solute Carrier Family 22 Member 5 (SLC22A5) Mutation

Open access

Case report

First published 2021

Maternal Primary Carnitine Deficiency and a Novel Solute Carrier Family 22 Member 5 (SLC22A5) Mutation

Michael Jakoby, Amruta Jaju, Aundrea Marsh [...]

Journal of Investigative Medicine High Impact Case Reports

Select article: Broadening the Spectrum of SLC22A5 Phenotype: Primary Carnitine Deficiency Presenting with Focal Myoclonus

Open access

Case report

First published 2023

Broadening the Spectrum of SLC22A5 Phenotype: Primary Carnitine Deficiency Presenting with Focal Myoclonus

Maymunah Khries, Albert Lim, Dipayan Mitra [...]

Child Neurology Open

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