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Patients with primary carnitine deficiency treated with L‐carnitine are alive and doing well—A 10‐year follow‐up in the Faroe Islands

Primary carnitine deficiency (PCD) can be lethal. Carnitine is essential for the transfer of long‐chain fatty acids across the inner mitochondrial membrane for β‐oxidation. The reported prevalence of PCD in the Faroe Islands of 1:300 is the highest in the world. The Faroese PCD patient cohort has be...

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Detalles Bibliográficos
Autores principales: Abrahamsen, Rannvá K., Lund, Allan M., Rasmussen, Jan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10623095/
https://www.ncbi.nlm.nih.gov/pubmed/37927485
http://dx.doi.org/10.1002/jmd2.12383