Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra-rare disease

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Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra-rare disease

Author: Adang, Laura A.; Schlotawa, Lars; Groeschel, Samuel; Kehrer, Christiane; Harzer, Klaus; Staretz-Chacham, Orna; Silva, Thiago Oliveira; Schwartz, Ida Vanessa D.; Gaertner, Jutta; De Castro, Mauricio; Costin, Carrie; Montgomery, Esperanza Font; Dierks, Thomas; Radhakrishnan, Karthikeyan; Ahrens-Nicklas, Rebecca C.
Tübinger Autor(en):
Gröschel, Samuel
Kehrer, Christiane
Harzer, Klaus
Published in: Journal of Inherited Metabolic Disease (2020), Bd. 43, H. 6, S. 1298-1309
Verlagsangabe: Wiley
Language: English
Full text: http://dx.doi.org/10.1002/jimd.12298
ISSN: 1573-2665
DDC Classifikation: 570 - Life sciences; biology
610 - Medicine and health
Dokumentart: Article
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