Disease: Angiokeratoma mental retardation coarse face
- A case of fucosidosis type II: diagnosed with dysmorphological and radiological findings
- An unusual presentation of fucosidosis in a Chinese boy: a case report and literature review (childhood fucosidosis)
- Late-infantile form galactosialidosis with psychomotor retardation and spastic paraparesis
- Novel mutations in the FUCA1 gene that cause fucosidosis
- Two Japanese cases with aspartylglycosaminuria: clinical and morphological features