Primary carnitine deficiency – diagnosis after heart transplantation: better late than never!

BACKGROUND: Primary carnitine deficiency due to mutations in the SLC22A5 gene is a rare but well-treatable metabolic disorder that puts patients at risk for metabolic decompensations, skeletal and cardiac myopathy and sudden cardiac death. RESULTS: We report on a 7-year-old boy diagnosed with primar...

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Detalles Bibliográficos
Autores principales: Grünert, Sarah C., Tucci, Sara, Schumann, Anke, Schwendt, Meike, Gramer, Gwendolyn, Hoffmann, Georg F., Erbel, Michelle, Stiller, Brigitte, Spiekerkoetter, Ute
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7146900/
https://www.ncbi.nlm.nih.gov/pubmed/32276632
http://dx.doi.org/10.1186/s13023-020-01371-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7146900/
https://www.ncbi.nlm.nih.gov/pubmed/32276632
http://dx.doi.org/10.1186/s13023-020-01371-2

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