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...

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Detalles Bibliográficos
Autores principales: Abdelkhalek, Zeinab S., Mahmoud, Iman G., Omair, Heba, Abdulhay, Mohamed, Elmonem, Mohamed A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Article
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

Internet

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

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