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Painful keratoderma and photophobia: hallmarks of tyrosinemia type II.
Rabinowitz LG, Williams LR, Anderson CE, Mazur A, Kaplan P. Rabinowitz LG, et al. J Pediatr. 1995 Feb;126(2):266-9. doi: 10.1016/s0022-3476(95)70558-9. J Pediatr. 1995. PMID: 7844676 Review.
Tyrosinemia type II (Richner-Hanhart syndrome), which is caused by a deficiency of hepatic tyrosine aminotransferase, results in elevated plasma and urinary tyrosine concentrations. ...
Tyrosinemia type II (Richner-Hanhart syndrome), which is caused by a deficiency of hepatic tyrosine aminotransferase, r …
Tyrosine inhibits creatine kinase activity in cerebral cortex of young rats.
de Andrade RB, Gemelli T, Rojas DB, Funchal C, Dutra-Filho CS, Wannmacher CM. de Andrade RB, et al. Metab Brain Dis. 2011 Sep;26(3):221-7. doi: 10.1007/s11011-011-9255-9. Epub 2011 Jul 26. Metab Brain Dis. 2011. PMID: 21789565
Tyrosine accumulates in inborn errors of tyrosine catabolism, especially in tyrosinemia type II, where tyrosine levels are highly elevated in tissues and physiological fluids of affected patients. Tyrosinemia type II is a disorder of auto …
Tyrosine accumulates in inborn errors of tyrosine catabolism, especially in tyrosinemia type II, where tyrosine levels …
Clinical picture and problems of keratoplasty in Richner-Hanhart syndrome (tyrosinemia type II).
Sayar RB, von Domarus D, Schäfer HJ, Beckenkamp G. Sayar RB, et al. Ophthalmologica. 1988;197(1):1-6. doi: 10.1159/000309909. Ophthalmologica. 1988. PMID: 3054681
The Richner-Hanhart syndrome seen in a middle-aged woman is described. The patient had the typical clinical manifestations of tyrosinemia II with a bilateral keratopathy, palmar and plantar hyperkeratosis. ...Postoperative systemic therapy with steroids had a negative infl …
The Richner-Hanhart syndrome seen in a middle-aged woman is described. The patient had the typical clinical manifestations of tyrosin …