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PHKA2 variants expand the phenotype of phosphorylase B kinase deficiency to include patients with ketotic hypoglycemia only

Idiopathic ketotic hypoglycemia (IKH) is a diagnosis of exclusion with glycogen storage diseases (GSDs) as a differential diagnosis. GSD IXa presents with ketotic hypoglycemia (KH), hepatomegaly, and growth retardation due to PHKA2 variants. In our multicenter study, 12 children from eight families...

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Detalles Bibliográficos
Autores principales:	Benner, Anne, Alhaidan, Yazeid, Lines, Matthew A., Brusgaard, Klaus, De Leon, Diva D., Sparkes, Rebecca, Frederiksen, Anja L., Christesen, Henrik T.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley & Sons, Inc. 2021
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8518678/ https://www.ncbi.nlm.nih.gov/pubmed/34117828 http://dx.doi.org/10.1002/ajmg.a.62383

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