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8. PHKA2 variants expand the phenotype of phosphorylase B kinase deficiency to include patients with ketotic hypoglycemia only. Benner A, Alhaidan Y, Lines MA, Brusgaard K, De Leon DD, Sparkes R, Frederiksen AL, Christesen HT. Am J Med Genet A; 2021 Oct; 185(10):2959-2975. PubMed ID: 34117828 [Abstract] [Full Text] [Related]
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