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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...
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| Publicado no: | Pediatr Rep |
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| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
PAGEPress Scientific Publications, Pavia, Italy
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6050471/ https://ncbi.nlm.nih.gov/pubmed/30069296 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4081/pr.2018.7705 |
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