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...
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| Pubblicato in: | J Clin Invest |
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| Autori principali: | , , , , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
American Society for Clinical Investigation
2002
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| Soggetti: | |
| Accesso online: | 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 |
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