Cargando…
Infantile primary carnitine deficiency: A severe cardiac presentation unresponsive to carnitine supplementation
Primary carnitine deficiency (PCD) is an inherited disease of fatty acid beta‐oxidation with autosomal recessive inheritance. The disease manifests as metabolic decompensation with hypoketotic hypoglycaemia associated with cardiomyopathy, hepatomegaly, rhabdomyolysis, and seizures. Various outcomes...
| Autores principales: | , , , , , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley & Sons, Inc.
2022
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9830015/ https://www.ncbi.nlm.nih.gov/pubmed/36636599 http://dx.doi.org/10.1002/jmd2.12346 |