Abstract
There are two types of tyrosinemia: tyrosinemia type 1 due to fumarylacetoacetase deficiency which is a hepatorenal form without skin abnormalities, and tyrosinemia type II or Richner—Hanhart Syndrome due to hepatic cytosolic aminotransferase deficiency, which is the oculocutaneous form of the disease we will discuss in this chapter.
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Orozco-Covarrubias, L., Saez-De-Ocariz, M., Durán-McKinster, C., Ruiz-Maldonado, R. (2008). Richner-Hanhart Syndrome (Tyrosine Transaminase Deficiency). In: Ruggieri, M., Pascual-Castroviejo, I., Di Rocco, C. (eds) Neurocutaneous Disorders Phakomatoses and Hamartoneoplastic Syndromes. Springer, Vienna. https://doi.org/10.1007/978-3-211-69500-5_42
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DOI: https://doi.org/10.1007/978-3-211-69500-5_42
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