Author Schlotawa, Lars
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2020 | Journal Article
A homozygous missense variant of SUMF1 in the Bedouin population extends the clinical spectrum in ultrarare neonatal multiple sulfatase deficiency
Staretz‐Chacham, O.; Schlotawa, L.; Wormser, O.; Golan‐Tripto, I.; Birk, O. S.; Ferreira, C. R. & Dierks, T. et al. (2020)
Molecular Genetics & Genomic Medicine, 8(9). DOI: https://doi.org/10.1002/mgg3.1167
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2020 | Journal Article |
A systematic review and meta‐analysis of published cases reveals the natural disease history in multiple sulfatase deficiency
Schlotawa, L.; Preiskorn, J.; Ahrens‐Nicklas, R.; Schiller, S. ; Adang, L. A.; Gärtner, J. & Friede, T. (2020)
Journal of Inherited Metabolic Disease, 43(6) pp. 1288-1297. DOI: https://doi.org/10.1002/jimd.12282
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2020 | Journal Article | Research Paper |
Multiple Sulfatase Deficiency: A Disease Comprising Mucopolysaccharidosis, Sphingolipidosis, and More Caused by a Defect in Posttranslational Modification
Schlotawa, L.; Adang, L. A.; Radhakrishnan, K. & Ahrens-Nicklas, R. C. (2020)
International Journal of Molecular Sciences, 21(10) pp. 3448. DOI: https://doi.org/10.3390/ijms21103448
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2020 | Journal Article |
Zebrafish disease model of human RNASET2-deficient cystic leukoencephalopathy displays abnormalities in early microglia
Weber, T.; Schlotawa, L.; Dosch, R.; Hamilton, N.; Kaiser, J.; Schiller, S. & Wenske, B. et al. (2020)
Biology Open, 9(5) pp. bio049239. DOI: https://doi.org/10.1242/bio.049239
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2020 | Journal Article
Mannose phosphate isomerase deficiency‐congenital disorder of glycosylation ( MPI‐CDG ) with cerebral venous sinus thrombosis as first and only presenting symptom: A rare but treatable cause of thrombophilia
Mühlhausen, C.; Henneke, L.; Schlotawa, L.; Behme, D.; Grüneberg, M.; Gärtner, J. & Marquardt, T. (2020)
JIMD Reports, 55(1) pp. 38-43. DOI: https://doi.org/10.1002/jmd2.12149
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2021 | Conference Abstract
Development of a Severity Scale for Multiple Sulfatase Deficiency
Isaacs, D.; Schlotawa, L.; Jawad, A.; Ahrens-Nicklas, R. & Adang, L. A. (2021)
Annals of Neurology, 90(Suppl. 27) p. S190. 146th Annual Meeting American Neurological Association, virtuell.
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2022 | Journal Article
Unexpected Phenotype Reversion and Survival in a Zebrafish Model of Multiple Sulfatase Deficiency
Fleming, A.; Xuan, L. Z.; Sanchez-Elexpuru, G.; Williams, S. V.; Windell, D.; Gelb, M. H. & Herbst, Z. M. et al. (2022)
Frontiers in Cell and Developmental Biology, 10 art. 843079. DOI: https://doi.org/10.3389/fcell.2022.843079
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2022 | Journal Article
An inducible expression system for the manipulation of autophagic flux in vivo
Schlotawa, L.; Lopez, A.; Sanchez-Elexpuru, G.; Tyrkalska, S. D.; Rubinsztein, D. C. & Fleming, A. (2022)
Autophagy, pp. 1-14. DOI: https://doi.org/10.1080/15548627.2022.2135824
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2023 | Journal Article |
Multiple Sulfatase Deficiency from an Ophthalmologist’s Perspective—Case Report and Literature Review
Naxer, S.; Elabbasy, M.; Herholz, L.; Breitling, V.; Finglas, A.; Schlotawa, L. & Schittkowski, M. P. et al. (2023)
Children, 10(3) pp. 595. DOI: https://doi.org/10.3390/children10030595
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2023 | Journal Article
Biochemical signatures of disease severity in Multiple Sulfatase Deficiency
Adang, L. A.; Mowafy, S.; Herbst, Z. M.; Zhou, Z.; Schlotawa, L.; Radhakrishnan, K. & Bentley, B. et al. (2023)
Journal of Inherited Metabolic Disease, art. jimd.12688. DOI: https://doi.org/10.1002/jimd.12688
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2023 | Journal Article |
Drug screening identifies tazarotene and bexarotene as therapeutic agents in multiple sulfatase deficiency
Schlotawa, L.; Tyka, K.; Kettwig, M.; Ahrens‐Nicklas, R. C.; Baud, M.; Berulava, T. & Brunetti‐Pierri, N. et al. (2023)
EMBO Molecular Medicine, 15(3) art. e14837. DOI: https://doi.org/10.15252/emmm.202114837
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