Alkaptonuria - an atypical manifestation or management?
Alkaptonuria is a rare autosomal recessive disease, in which the metabolism of homogentisic acid is defective. Homogentisate 1, 2- dioxygenase deficiency results in homogentisic aciduria, ochronosis, and ochronotic arthritis, in which pigments precipitate in joints especially those under pressure li...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
Mashhad University of Medical Sciences
2023-06-01
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| Series: | International Journal of Pediatrics |
| Subjects: | |
| Online Access: | https://ijp.mums.ac.ir/article_22469_5d3358fda0431f90606aa74e79d477b0.pdf |