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A Mutation-Agnostic Hematopoietic Stem Cell Gene Therapy for Metachromatic Leukodystrophy.
Antony JS, Daniel-Moreno A, Lamsfus-Calle A, Raju J, Kaftancioglu M, Ureña-Bailén G, Rottenberger J, Hou Y, Santhanakumaran V, Lee JH, Heumos L, Böhringer J, Krägeloh-Mann I, Handgretinger R, Mezger M. Antony JS, et al. Among authors: santhanakumaran v. CRISPR J. 2022 Feb;5(1):66-79. doi: 10.1089/crispr.2021.0075. Epub 2021 Dec 8. CRISPR J. 2022. PMID: 34882002
Identification of neurodegeneration indicators and disease progression in metachromatic leukodystrophy using quantitative NMR-based urinary metabolomics.
Laugwitz L, Zizmare L, Santhanakumaran V, Cannet C, Böhringer J, Okun JG, Spraul M, Krägeloh-Mann I, Groeschel S, Trautwein C. Laugwitz L, et al. Among authors: santhanakumaran v. JIMD Rep. 2022 Jan 27;63(2):168-180. doi: 10.1002/jmd2.12273. eCollection 2022 Mar. JIMD Rep. 2022. PMID: 35281658 Free PMC article.
Predicting clinical phenotypes of metachromatic leukodystrophy based on the arylsulfatase A activity and the ARSA genotype? - Chances and challenges.
Santhanakumaran V, Groeschel S, Harzer K, Kehrer C, Elgün S, Beck-Wödl S, Hengel H, Schöls L, Haack TB, Krägeloh-Mann I, Laugwitz L. Santhanakumaran V, et al. Mol Genet Metab. 2022 Nov;137(3):273-282. doi: 10.1016/j.ymgme.2022.09.009. Epub 2022 Sep 30. Mol Genet Metab. 2022. PMID: 36240581 Free article.
Extremely low arylsulfatase A enzyme activity does not necessarily cause symptoms: A long-term follow-up and review of the literature.
Laugwitz L, Santhanakumaran V, Spieker M, Boehringer J, Bender B, Gieselmann V, Beck-Woedl S, Bruchelt G, Harzer K, Kraegeloh-Mann I, Groeschel S. Laugwitz L, et al. Among authors: santhanakumaran v. JIMD Rep. 2022 May 4;63(4):292-302. doi: 10.1002/jmd2.12293. eCollection 2022 Jul. JIMD Rep. 2022. PMID: 35822086 Free PMC article.
Corrigendum to "Predicting clinical phenotypes of metachromatic leukodystrophy based on the arylsulfatase A activity and the ARSA genotype? - Chances and challenges" Mol Genet Metab/Vol 137/Issue 3/2022/ 273-282.
Santhanakumaran V, Groeschel S, Harzer K, Kehrer C, Elgün S, Beck-Wödl S, Hengel H, Schöls L, Haack TB, Krägeloh-Mann I, Laugwitz L. Santhanakumaran V, et al. Mol Genet Metab. 2023 Mar;138(3):107372. doi: 10.1016/j.ymgme.2023.107372. Epub 2023 Feb 3. Mol Genet Metab. 2023. PMID: 36739646 No abstract available.