Two novel BTD mutations causing profound biotinidase deficiency in a Chinese patient
Abstract Background Biotinidase deficiency (OMIM 253260) is an autosomal recessively inherited disorder affecting about 1/60,000 people worldwide. The absence or deficiency of biotinidase impairs free biotin recycling and affects biotin‐dependent carboxylase functions. Methods A Chinese patient with...
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| Hauptverfasser: | , , , , , , , , , , |
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Wiley
2021-02-01
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| Schriftenreihe: | Molecular Genetics & Genomic Medicine |
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| Online-Zugang: | https://doi.org/10.1002/mgg3.1591 |
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