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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...
Autores principales: | Ago, Yasuhiko, Sugie, Hideo, Fukuda, Tokiko, Otsuka, Hiroki, Sasai, Hideo, Nakama, Mina, Abdelkreem, Elsayed, Fukao, Toshiyuki |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley & Sons, Inc.
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6606978/ https://www.ncbi.nlm.nih.gov/pubmed/31392108 http://dx.doi.org/10.1002/jmd2.12041 |
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