Lars Dr Schlotawa
0000-0002-7415-4905
Fraunhofer-Gesellschaft zur Förderung der angewandten Forschung eV
9 papers found
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Multiple Sulfatase Deficiency from an Ophthalmologist’s Perspective—Case Report and Literature Review
Drug screening identifies tazarotene and bexarotene as therapeutic agents in multiple sulfatase deficiency
An inducible expression system for the manipulation of autophagic flux in vivo
Natural history of multiple sulfatase deficiency: retrospective phenotyping and functional variant analysis to characterize an ultra‐rare disease
A systematic review and meta‐analysis of published cases reveals the natural disease history in Multiple Sulfatase Deficiency
Multiple Sulfatase Deficiency: A Disease Comprising Mucopolysaccharidosis, Sphingolipidosis, and More Caused by a Defect in Posttranslational Modification
Severe neonatal multiple sulfatase deficiency presenting with hydrops fetalis in a preterm birth patient
Recognition and ER Quality Control of Misfolded Formylglycine-Generating Enzyme by Protein Disulfide Isomerase
Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement
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