Deterioration of visual quality and acuity as the first sign of ceroid lipofuscinosis type 3 (cln3), a rare neurometabolic disease

HIGHLIGHTS

• who: Joanna Karolina Purzycka-Olewiecka from the Department of Genetics, Institute of Psychiatry and Neurology, Warsaw, Poland have published the paper: Deterioration of visual quality and acuity as the first sign of ceroid lipofuscinosis type 3 (CLN3), a rare neurometabolic disease, in the Journal: (JOURNAL)
• how: This result was in agreement with the mutation carrier state in PPT1 gene (detected by WES).

SUMMARY

Lysosomal storage diseases (LSDs) are a group of inherited metabolic disorders, caused by non-functional lysosomal system in the cell. Ceroid lipofuscinosis type 3 (CLN3; MIM #204,200 . . .

 



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