Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra‐rare disease
2020 | journal article. A publication with affiliation to the University of Göttingen.
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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. et al. (2020)
Journal of Inherited Metabolic Disease, 43(6) pp. 1298-1309. DOI: https://doi.org/10.1002/jimd.12298
Documents & Media
Details
- Authors
- Adang, Laura A.; Schlotawa, Lars; Groeschel, Samuel; Kehrer, Christiane; Harzer, Klaus; Staretz‐Chacham, Orna; Silva, Thiago Oliveira; Schwartz, Ida Vanessa D.; Gärtner, Jutta ; De Castro, Mauricio; Costin, Carrie; Montgomery, Esperanza Font; Dierks, Thomas; Radhakrishnan, Karthikeyan; Ahrens‐Nicklas, Rebecca C.
- Issue Date
- 2020
- Journal
- Journal of Inherited Metabolic Disease
- ISSN
- 0141-8955
- eISSN
- 1573-2665
- Language
- English
