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Severe CNS involvement in a subset of long-term treated children with infantile-onset Pompe disease.
Kenney-Jung D, Korlimarla A, Spiridigliozzi GA, Wiggins W, Malinzak M, Nichting G, Jung SH, Sun A, Wang RY, Al Shamsi A, Phornphutkul C, Owens J, Provenzale JM, Kishnani PS. Kenney-Jung D, et al. Among authors: spiridigliozzi ga. Mol Genet Metab. 2024 Feb;141(2):108119. doi: 10.1016/j.ymgme.2023.108119. Epub 2023 Dec 22. Mol Genet Metab. 2024. PMID: 38184429
Novel approaches to quantify CNS involvement in children with Pompe disease.
Korlimarla A, Spiridigliozzi GA, Crisp K, Herbert M, Chen S, Malinzak M, Stefanescu M, Austin SL, Cope H, Zimmerman K, Jones H, Provenzale JM, Kishnani PS. Korlimarla A, et al. Among authors: spiridigliozzi ga. Neurology. 2020 Aug 11;95(6):e718-e732. doi: 10.1212/WNL.0000000000009979. Epub 2020 Jun 9. Neurology. 2020. PMID: 32518148 Free PMC article.
Behavioral, social and school functioning in children with Pompe disease.
Korlimarla A, Spiridigliozzi GA, Stefanescu M, Austin SL, Kishnani PS. Korlimarla A, et al. Among authors: spiridigliozzi ga. Mol Genet Metab Rep. 2020 Aug 5;25:100635. doi: 10.1016/j.ymgmr.2020.100635. eCollection 2020 Dec. Mol Genet Metab Rep. 2020. PMID: 32793419 Free PMC article.
46 results