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Natural history of multiple sulfatase deficiency: Retrospec..:
Adang, Laura A.
;
Schlotawa, Lars
;
Groeschel, Samuel
...
Journal of Inherited Metabolic Disease. 43 (2020) 6 - p. 1298-1309 , 2020
Link:
https://doi.org/10.1002/jimd.12298
RT Journal T1 <Title>Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra‐rare disease</Title> UL https://suche.suub.uni-bremen.de/peid=cr-10.1002_jimd.12298&Exemplar=1&LAN=DE A1 Adang, Laura A. A1 Schlotawa, Lars A1 Groeschel, Samuel A1 Kehrer, Christiane A1 Harzer, Klaus A1 Staretz‐Chacham, Orna A1 Silva, Thiago Oliveira A1 Schwartz, Ida Vanessa D. A1 Gärtner, Jutta A1 De Castro, Mauricio A1 Costin, Carrie A1 Montgomery, Esperanza Font A1 Dierks, Thomas A1 Radhakrishnan, Karthikeyan A1 Ahrens‐Nicklas, Rebecca C. PB Wiley YR 2020 SN 0141-8955 SN 1573-2665 JF Journal of Inherited Metabolic Disease VO 43 IS 6 SP 1298 OP 1309 LK http://dx.doi.org/https://doi.org/10.1002/jimd.12298 DO https://doi.org/10.1002/jimd.12298 SF ELIB - SuUB Bremen
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