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Citation: R. Penzel et al., Splice donor site mutation in the lysosomal neuraminidase gene causing exon skipping and complete loss of enzyme activity in a sialidosis patient, FEBS LETTER, 501(2-3), 2001, pp. 135-138
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Citation: F. Schutt et al., A fluorescent compound of lipofuscin, A2-E, is a photosensitizer in human retinal pigment epithelial cells, OPHTHALMOLO, 97(10), 2000, pp. 682-687
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Citation: Fg. Holz et al., Coupling of the lipofuscin fluorophor (A2-E) to LDL particles allows specific loading of the lysosomal compartment in cultured human RPE cells, OPHTHALMOLO, 96(12), 1999, pp. 781-785
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Citation: C. Sergi et al., Refractory congenital ascites as a manifestation of neonatal sialidosis: Clinical, biochemical and morphological studies in a newborn Syrian male infant, AM J PERIN, 16(3), 1999, pp. 133-141
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