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Homogentisate 1,2-dioxygenase (HGD) gene variants in young Egyptian patients with alkaptonuria
Alkaptonuria (AKU) is a rare autosomal recessive metabolic disorder caused by pathogenic variants in the homogentisate 1,2-dioxygenase (HGD) gene. This leads to a deficient HGD enzyme with the consequent accumulation of homogentisic acid (HGA) in different tissues causing complications in various or...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group UK
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10474279/ https://www.ncbi.nlm.nih.gov/pubmed/37658095 http://dx.doi.org/10.1038/s41598-023-41200-7 |