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

Primary carnitine deficiency (PCD) is a rare autosomal recessive disorder caused by loss of function mutations in the solute carrier family 22 member 5 (SLC22A5) gene that encodes a high-affinity sodium-ion–dependent organic cation transporter protein (OCTN2). Reduced carnitine transport results in...

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Detalles Bibliográficos
Autores principales: Jakoby, Michael, Jaju, Amruta, Marsh, Aundrea, Wilber, Andrew
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8155745/
https://www.ncbi.nlm.nih.gov/pubmed/34032155
http://dx.doi.org/10.1177/23247096211019543

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8155745/
https://www.ncbi.nlm.nih.gov/pubmed/34032155
http://dx.doi.org/10.1177/23247096211019543

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