Search Results - "Peifer, Danielle"

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    Developmental Skills and Neurorehabilitation for Children With Batten Disease: A Retrospective Chart Review of a Comprehensive Batten Clinic by Bican, Rachel, Goddard, Virginia, Abreu, Nicolas, Peifer, Danielle, Basinger, Andrea, Sveda, Michelle, Tanner, Kelly, de los Reyes, Emily C.

    Published in Pediatric neurology (01-03-2024)
    “…Batten disease is a rare, progressive neurogenetic disorder composed of 13 genotypes that often presents in childhood. Children present with seizures, vision…”
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    Journal Article
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    Management of CLN1 Disease: International Clinical Consensus by Augustine, Erika F., Adams, Heather R., de los Reyes, Emily, Drago, Kristen, Frazier, Margie, Guelbert, Norberto, Laine, Minna, Levin, Tanya, Mink, Jonathan W., Nickel, Miriam, Peifer, Danielle, Schulz, Angela, Simonati, Alessandro, Topcu, Meral, Turunen, Joni A., Williams, Ruth, Wirrell, Elaine C., King, Sharon

    Published in Pediatric neurology (01-07-2021)
    “…CLN1 disease (neuronal ceroid lipofuscinosis type 1) is a rare, genetic, neurodegenerative lysosomal storage disorder caused by palmitoyl-protein thioesterase…”
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    Journal Article