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

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Description scientific article published on 12 June 2021
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author: Anja L Frederiksen  Diva D De León  Yazeid A Alhaidan  Klaus Brusgaard  Henrik Thybo Christesen 

Publication date June 12, 2021
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