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

Anne Benner, Yazeid Alhaidan, Matthew A. Lines, Klaus Brusgaard, Diva D. De Leon, Rebecca Sparkes, Anja L. Frederiksen, Henrik T. Christesen*

*Kontaktforfatter

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

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Biochemistry, Genetics and Molecular Biology