Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0451641 (urolithiasis)
 3,973 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 46-year-old Japanese man with familial primary hyperoxaluria had been suffering from urolithiasis since the age of 6 years and had been treated by hemodialysis for 8 years before his death. The alpha-ketoglutarate glyoxylate carboligase and serine pyruvate transoxylase activities in the patient's liver had markedly decreased, indicating type I primary hyperoxaluria. Ocular tissues obtained at autopsy were studied immunohistochemically and histochemically. The ocular alterations were characterized by an unusual distribution of oxalate deposits, mainly located in the outer plexiform layer and the nuclear layer but not in the retinal pigment epithelium or in the vascularized layer of the sensory retina. These distributions of the oxalate deposits were determined to be unrelated to the blood vessels.
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PMID:Ocular histopathologic findings in a 46-year-old man with primary hyperoxaluria. 173 9