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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. Among authors: harzer k. 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: harzer k. 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.
Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra-rare disease.
Adang LA, Schlotawa L, Groeschel S, Kehrer C, Harzer K, Staretz-Chacham O, Silva TO, Schwartz IVD, Gärtner J, De Castro M, Costin C, Montgomery EF, Dierks T, Radhakrishnan K, Ahrens-Nicklas RC. Adang LA, et al. Among authors: harzer k. J Inherit Metab Dis. 2020 Nov;43(6):1298-1309. doi: 10.1002/jimd.12298. Epub 2020 Aug 20. J Inherit Metab Dis. 2020. PMID: 32749716 Free PMC article.
161 results