Rare Treatable Neurometabolic Condition - Adenosine Kinase Deficiency
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Citing Articles
Gowda V, Babu S, Kinhal U, Srinivasan V Indian J Pediatr. 2024; 91(9):989.
PMID: 38519722 DOI: 10.1007/s12098-024-05107-z.
Finsterer J Indian J Pediatr. 2024; 91(9):988.
PMID: 38514515 DOI: 10.1007/s12098-024-05106-0.
References
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Bjursell M, Blom H, Cayuela J, Engvall M, Lesko N, Balasubramaniam S
. Adenosine kinase deficiency disrupts the methionine cycle and causes hypermethioninemia, encephalopathy, and abnormal liver function. Am J Hum Genet. 2011; 89(4):507-15.
PMC: 3188832.
DOI: 10.1016/j.ajhg.2011.09.004.
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2.
Becker P, Demir Z, Glassberg Y, Sevin C, Habes D, Imbard A
. Adenosine kinase deficiency: Three new cases and diagnostic value of hypermethioninemia. Mol Genet Metab. 2020; 132(1):38-43.
DOI: 10.1016/j.ymgme.2020.11.007.
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3.
Lipinski P, Ciara E, Jurkiewicz D, Pronicki M, Jurkiewicz E, Bogdanska A
. Case Report: Adenosine kinase deficiency diagnosed 10 years after liver transplantation: Novel phenotypic insights. Front Pediatr. 2023; 10:1061043.
PMC: 9794844.
DOI: 10.3389/fped.2022.1061043.
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