Article
[Natural history of mucopolysaccharidosis type III in a series of Colombian patients].
Revista de neurologia - 16 Mar 2024
Cabarcas L, Ramón J L, Espinosa E, Guerrero G P, Martínez N, Santamaría N, Lince I, Reyes S
Abstract excerpt
INTRODUCTION: Mucopolysaccharidosis type III (MPS III), also known as Sanfilippo syndrome, is a lysosomal storage disease with progressive neurodegenerative features, predominantly affecting the central nervous system. Diagnosis is based on clinical features, with neurodevelopmental and neuropsychiatric alterations taking precedence, including over phenotype alterations. The disease is confirmed by biochemical...
Topics
- Humans
- Colombia
- Mucopolysaccharidosis III
- Quality of Life
- Phenotype
- Neuroimaging