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A case of atypical systemic primary carnitine deficiency in Saudi Arabia
Systemic primary carnitine deficiency (SPCD) is an autosomal recessive inborn error of fatty acid metabolism caused by a defect in the transporter responsible for moving carnitine across plasma membrane. The clinical features of SPCD vary widely based on the age of onset and organs involved. During...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
PAGEPress Scientific Publications, Pavia, Italy
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6050471/ https://www.ncbi.nlm.nih.gov/pubmed/30069296 http://dx.doi.org/10.4081/pr.2018.7705 |