ISSN:
1573-2665
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Abstract Tyrosinaemia type II (Richner-Hanhart's syndrome), first reported by Wadmanet al. (1968), is characterized by a highly elevated level of tyrosine in blood and corneal ulcer, dermal hyperkeratosis and mental retardation. Fellmanet al. (1969) showed that this disease was caused by the defect of the cytosolic tyrosine aminotransferase of the liver. We now report a case of this disease with enzymological studies of the biopsied liver.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF02179149
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