A Novel Mutation in the NAGLU (N-Acetyl-Alpha-Glucosaminidase) Gene Associated With Mucopolysaccharidosis Type III-B in a Saudi Girl

Mucopolysaccharidosis type III-B (MPS III), also known as Sanfilippo syndrome, is a rare autosomal recessive lysosomal storage disease that primarily affects the brain and spinal cord. In this report, we describe the case of an eight-year-old female child who presented to the emergency room with an...

Descripción completa

Detalles Bibliográficos
Autores principales: Albar, Rawia F, AlQurashi, Rahaf A, Naaman, Nada, Alghamdi, Atheer, Alghamdi, Sara K, Aljohani, Khulud, Alsharif, Rawaf
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9675415/
https://www.ncbi.nlm.nih.gov/pubmed/36415369
http://dx.doi.org/10.7759/cureus.30519

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9675415/
https://www.ncbi.nlm.nih.gov/pubmed/36415369
http://dx.doi.org/10.7759/cureus.30519

Ejemplares similares