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A Korean Case of β-Ureidopropionase Deficiency Presenting with Intractable Seizure, Global Developmental Delay, and Microcephaly
β-Ureidopropionase deficiency (OMIM #613161) is a rare autosomal recessive inborn error of metabolism due to mutations in the UPB1 gene, which encodes the third enzyme involved in the pyrimidine degradation pathway. A total of 28 cases have been reported, mainly presenting with seizures, microcephal...
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| 發表在: | JIMD Rep |
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| Main Authors: | , , , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
Springer Berlin Heidelberg
2015
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4501230/ https://ncbi.nlm.nih.gov/pubmed/25638458 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2014_379 |
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