Investigative ophthalmology & visual science۲۰۲۴۶ استنادنمایه شده در PubMed
Jimin Han, Sueanne Chear, Jana Talbot, Vicki Swier, Clarissa Booth, Cheyenne Reuben-Thomas, Sonal Dalvi, Jill M Weimer, Alex W Hewitt, Anthony L Cook, Ruchira Singh
چکیده
CLN3 Batten disease (also known as juvenile neuronal ceroid lipofuscinosis) is a lysosomal storage disorder that typically initiates with retinal degeneration but is followed by seizure onset, motor decline and premature death. Patient-derived CLN3 disease induced pluripotent stem cell-RPE cells…
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DOI: 10.1167/iovs.65.13.23