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Recognizing differentiating clinical signs of CLN3 disease (Batten disease) at presentation

PURPOSE: To help differentiate CLN3 (Batten) disease, a devastating childhood metabolic disorder, from the similarly presenting early‐onset Stargardt disease (STGD1). Early clinical identification of children with CLN3 disease is essential for adequate referral, counselling and rehabilitation. METHO...

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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8359263/
https://www.ncbi.nlm.nih.gov/pubmed/33073538
http://dx.doi.org/10.1111/aos.14630