ADK

Publications

Bjursell MK, et al. Adenosine kinase deficiency disrupts the methionine cycle and causes hypermethioninemia, encephalopathy, and abnormal liver function. Am J Hum Genet. 2011 Oct 7;89(4):507-15. PMID: 21963049.

Staufner C, et al. Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic options. J Inherit Metab Dis. 2016 Mar;39(2):273-83. PMID: 26642971.

Alhusani A, et al. Adenosine Kinase Deficiency: Report and Review. Neuropediatrics. 2019 Feb;50(1):46-50. PMID: 30477030.