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Long-Term Outcome of Infantile Onset Pompe Disease Patients Treated with Enzyme Replacement Therapy - Data from a German-Austrian Cohort.
J Neuromuscul Dis. 2024;11(1):167-177. doi: 10.3233/JND-230164.
J Neuromuscul Dis. 2024.
PMID: 38043017
Free PMC article.
Treatment of CLN1 disease with a blood-brain barrier penetrating lysosomal enzyme.
Hahn A, Sato Y, Ikeda T, Sonoda H, Schmidt M, Pfrimmer C, Boado RJ, Pardridge WM.
Hahn A, et al. Among authors: pfrimmer c.
Mol Genet Metab Rep. 2022 Oct 26;33:100930. doi: 10.1016/j.ymgmr.2022.100930. eCollection 2022 Dec.
Mol Genet Metab Rep. 2022.
PMID: 36324638
Free PMC article.
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Clinical and Genetic Aspects of Juvenile Onset Pompe Disease.
Holzwarth J, Minopoli N, Pfrimmer C, Smitka M, Borrel S, Kirschner J, Muschol N, Hartmann H, Hennermann JB, Neubauer BA, Hobbiebrunken E, Husain RA, Hahn A.
Holzwarth J, et al. Among authors: pfrimmer c.
Neuropediatrics. 2022 Feb;53(1):39-45. doi: 10.1055/s-0041-1735250. Epub 2021 Dec 1.
Neuropediatrics. 2022.
PMID: 34852371
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