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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...
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. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2020
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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 |
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