Systemic primary carnitine deficiency: an overview of clinical manifestations, diagnosis, and management

Systemic primary carnitine deficiency (CDSP) is an autosomal recessive disorder of carnitine transportation. The clinical manifestations of CDSP can vary widely with respect to age of onset, organ involvement, and severity of symptoms, but are typically characterized by episodes of hypoketotic hypog...

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Detalles Bibliográficos
Autores principales: Magoulas, Pilar L, El-Hattab, Ayman W
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2012
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3495906/
https://www.ncbi.nlm.nih.gov/pubmed/22989098
http://dx.doi.org/10.1186/1750-1172-7-68

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3495906/
https://www.ncbi.nlm.nih.gov/pubmed/22989098
http://dx.doi.org/10.1186/1750-1172-7-68

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