Cataract and early nystagmus due to galactokinase deficiency
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DOI: 10.1007/s10545-017-0040-8
Abstract: Galactokinase deficiency (GALK-D, OMIM #230200) is a very rare autosomal recessive inherited disorder in the first step of galactose metabolism presenting as bilateral cataract. The highest incidence is found in Bulgaria and in Bosnia, primarily… read more here.
Keywords: nystagmus; galactokinase; galactokinase deficiency; cataract early ... See more keywords