Primary carnitine deficiency is a life‐long disease

Primary carnitine deficiency is a rare autosomal recessive disease associated with acute hypoketotic hypoglycaemia, cardiomyopathy and sudden cardiac death. Effective treatment with carnitine supplementation is available. An 18 months old boy, who presented with cardiomyopathy was diagnosed with pri...

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Detalles Bibliográficos
Autores principales: Crefcoeur, Loek L., Melles, Mireille C., Bruning, Tobias A., Pereira, Rob Rodrigues, Langendonk, Janneke G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9626665/
https://www.ncbi.nlm.nih.gov/pubmed/36341172
http://dx.doi.org/10.1002/jmd2.12319

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9626665/
https://www.ncbi.nlm.nih.gov/pubmed/36341172
http://dx.doi.org/10.1002/jmd2.12319

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