المؤلفون: Kuper, Willemijn F. E., Talsma, Herman E., van Schooneveld, Mary J., Pott, Jan Willem R., Huijgen, Barbara C. H., de Wit, Gerard C., van Hasselt, Peter M., van Genderen, Maria M.

المصدر: Kuper , W F E , Talsma , H E , van Schooneveld , M J , Pott , J W R , Huijgen , B C H , de Wit , G C , van Hasselt , P M & van Genderen , M M 2021 , ' Recognizing differentiating clinical signs of CLN3 disease (Batten disease) at presentation ' , Acta ophthalmologica , vol. 99 , no. 4 , pp. 397-404 . https://doi.org/10.1111/aos.14630

مصطلحات موضوعية: Batten disease, childhood retinal dystrophy, CLN3 disease, deep phenotyping, early recognition, early-onset STGD1, CEROID-LIPOFUSCINOSIS CLN3, OPTIC-NERVE DEGENERATION, VISION LOSS, JUVENILE, DIAGNOSIS, PHENOTYPE, DECLINE, MODEL

وصف الملف: application/pdf

الاتاحة: https://hdl.handle.net/11370/2bf67dab-4cef-4afe-b4b0-e6fb18008602
https://research.rug.nl/en/publications/2bf67dab-4cef-4afe-b4b0-e6fb18008602
https://doi.org/10.1111/aos.14630
https://pure.rug.nl/ws/files/202794158/Acta_Ophthalmologica_2020_Kuper_Recognizing_differentiating_clinical_signs_of_CLN3_disease_Batten_disease_at.pdf