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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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Wedi'i Gadw mewn:
Cyhoeddwyd yn:J Clin Invest
Prif Awduron: Mardach, Rebecca, Zempleni, Janos, Wolf, Barry, Cannon, Martin J., Jennings, Michael L., Cress, Sally, Boylan, Jane, Roth, Susan, Cederbaum, Stephen, Mock, Donald M.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: American Society for Clinical Investigation 2002
Pynciau:
Article
Mynediad Ar-lein: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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