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Published in 2022 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2022.2034168
Abstract: Tyrosinemia type II (OMIM #276600), also called RichnerHanhart Syndrome (RHS), is a rare autosomal recessive metabolic disease caused by a deficiency of the cytosolic enzyme tyrosine aminotransferase (TAT) (1). It can be detected in neonatal…
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Keywords:
tyrosinemia type;
manifestation;
pseudodendritic keratopathy;
bilateral recurrent ... See more keywords