Ochronosis – a rare metabolic disease
Alkaptonuria is a rare disorder, an autosomal recessive condition with genetic determinism and hereditary transmission, having a prevalence of 1 per 1 million population in USA. The pathogenesis includes the deficiency of the homogentisate 1,2-dioxygenase (HGD) enzyme, an intermediary enzyme in phen...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Amaltea Medical Publishing House
2021-12-01
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| Series: | Romanian Journal of Rheumatology |
| Subjects: | |
| Online Access: | https://rjr.com.ro/articles/2021.4/RJR_2021_4_Art-06.pdf |