Autor Adang, Laura A.
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2018 | Zeitschriftenartikel
Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement
Ahrens-Nicklas, R.; Schlotawa, L.; Ballabio, A.; Brunetti-Pierri, N.; De Castro, M.; Dierks, T. & Eichler, F. u.a. (2018)
Molecular Genetics and Metabolism, 123(3) pp. 337-346. DOI: https://doi.org/10.1016/j.ymgme.2018.01.005
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2019 | Zeitschriftenartikel
Improved description of clinical features of multiple sulfatase deficiency: A meta-analysis of published cases
Schlotawa, L.; Preiskorn, J.; Ahrens-Nicklas, R.; Adang, L. A.; Gärtner, J. & Friede, T. (2019)
Molecular Genetics and Metabolism, 126(2) pp. S131. DOI: https://doi.org/10.1016/j.ymgme.2018.12.337
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2020 | Zeitschriftenartikel
Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra‐rare disease
Adang, L. A.; Schlotawa, L.; Groeschel, S.; Kehrer, C.; Harzer, K.; Staretz‐Chacham, O. & Silva, T. O. u.a. (2020)
Journal of Inherited Metabolic Disease, 43(6) pp. 1298-1309. DOI: https://doi.org/10.1002/jimd.12298
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2020 | Zeitschriftenartikel |
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 | Zeitschriftenartikel | 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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2021 | Konferenzbeitrag (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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2023 | Zeitschriftenartikel
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. u.a. (2023)
Journal of Inherited Metabolic Disease, art. jimd.12688. DOI: https://doi.org/10.1002/jimd.12688
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