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AHCY deficiency is a rare and severe neurometabolic disorder, and this paper reports a new patient with presumed diagnosis and adds new features to the disorder

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This page is a summary of: A Turkish patient with novel AHCY variants and presumed diagnosis of S‐adenosylhomocysteine hydrolase deficiency, American Journal of Medical Genetics Part A, January 2020, Wiley,
DOI: 10.1002/ajmg.a.61489.
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