טוען...
A novel mutation in ornithine transcarbamylase gene causing mild intermittent hyperammonemia
We report a 3-year-old Saudi boy with recurrent episodes of vomiting, poor feeding, and altered mental status accompanied by an intermittent mild hyperammonemia, and a large elevation of urinary orotic acid. Sanger sequencing of the ornithine transcarbamylase (OTC) gene revealed a novel hemizygous d...
שמור ב:
| הוצא לאור ב: | Saudi Med J |
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| Main Authors: | , , , |
| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
Saudi Medical Journal
2015
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| נושאים: | |
| גישה מקוונת: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4621731/ https://ncbi.nlm.nih.gov/pubmed/26446336 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.15537/smj.2015.10.12127 |
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