Biotin dependency due to a defect in biotin transport
We describe a 3-year-old boy with biotin dependency not caused by biotinidase, holocarboxylase synthetase, or nutritional biotin deficiency. We sought to define the mechanism of his biotin dependency. The child became acutely encephalopathic at age 18 months. Urinary organic acids indicated deficien...
সংরক্ষণ করুন:
| প্রকাশিত: | J Clin Invest |
|---|---|
| প্রধান লেখক: | , , , , , , , , , |
| বিন্যাস: | Artigo |
| ভাষা: | Inglês |
| প্রকাশিত: |
American Society for Clinical Investigation
2002
|
| বিষয়গুলি: | |
| অনলাইন ব্যবহার করুন: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC151007/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/12070309/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI13138 |
| ট্যাগগুলো: |
কোনো ট্যাগ নেই, প্রথমজন হিসাবে ট্যাগ করুন!
|