Krabbe disease (or Globoid cell leukodystrophy) is a rare mutation of a gene found on chromosome 14q31 responsible for the production of the enzyme called galactocerebrosidase (G ALC), which breaks down two galactolipids; galactosyl-ceramide and galactosylsphingosine (psychosine)...
Adedeji Okikiade, Nourhan Abdulrahman, Miriam Tikanide, Jeffrey Ndu, Annah Akoth, Esther Akinyode, Twanna Browne-Caesar & Aromedonghene Osharode·Asian Journal of Research in Nephrology·2022
Alport syndrome (AS), also known as hereditary nephrosis, is an X-linked genetic disease that predominantly affects type IV collagen mainly in the kidneys and the eyes. It primarily affects males, particularly children, and can be transmitted via autosomal dominant and recessive...
The fibroblast growth factor receptor 3 (FGFR3) gene mutations were identified to be involved in the pathogenesis of most chondropathies. The FGFR3 gene encodes the FGFR3 receptor and is involved in the regulation of bone growth by limiting the ossification of long bones. Mutatio...
Open access
Research Article10.9734/air/2023/v24i5956