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...
| প্রধান লেখক: | , , , , |
|---|---|
| বিন্যাস: | প্রবন্ধ |
| ভাষা: | English |
| প্রকাশিত: |
MDPI AG
2018-06-01
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| মালা: | Pediatric Reports |
| বিষয়গুলি: | |
| অনলাইন ব্যবহার করুন: | https://www.pagepress.org/journals/index.php/pr/article/view/7705 |