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Natural History of Multiple Sulfatase Deficiency: Retrospective Phenotyping and Functional Variant Analysis to Characterize an Ultra-Rare Disease

Laura A. Adang,Lars Schlotawa,Samuel Groeschel,Christiane Kehrer,Klaus Harzer,Orna Staretz-Chacham,Thiago Oliveira Silva,Ida Vanessa D. Schwartz,Jutta Gaertner,Mauricio De Castro,Carrie Costin,Esperanza Font Montgomery,Thomas Dierks,Karthikeyan Radhakrishnan,Rebecca C. Ahrens-Nicklas

Journal of Inherited Metabolic Disease（2020）

引用 27|浏览31
关键词
leukodystrophy,mucopolysaccharidoses,multiple sulfatase deficiency,outcomes
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