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A rare PHKA2 variant (p.G991A) identified in a patient with ketotic hypoglycemia
We describe the case of a 4‐year‐old boy who suffered from frequent ketotic hypoglycemia (KH) but did not have hepatomegaly or elevated liver enzyme levels. However, the patient was found to have a rare variant in the PHKA2 gene. To detect the underlying disease in this case, we performed a gene pan...
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| Izdano u: | JIMD Rep |
|---|---|
| Glavni autori: | , , , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
John Wiley & Sons, Inc.
2019
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| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6606978/ https://ncbi.nlm.nih.gov/pubmed/31392108 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jmd2.12041 |
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