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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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| 主要な著者: | , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
BioMed Central
2012
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3495906/ https://ncbi.nlm.nih.gov/pubmed/22989098 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-7-68 |
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