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Hyperornithinemia, Hyperammonemia, and Homocitrullinuria Syndrome Causing Severe Neonatal Hyperammonemia
Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome (OMIM 238970) is an autosomal recessive disorder that is caused by a deficiency of mitochondrial ornithine transporter 1, resulting in dysfunction of the urea cycle. HHH is the rarest of the urea cycle disorders, reported in fewer tha...
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| 發表在: | JIMD Rep |
|---|---|
| Main Authors: | , , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
Springer Berlin Heidelberg
2018
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6323011/ https://ncbi.nlm.nih.gov/pubmed/30187369 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2018_132 |
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