Multiple Sulfatase Deficiency: A Disease Comprising Mucopolysaccharidosis, Sphingolipidosis, and More Caused by a Defect in Posttranslational Modification

by Lars Schlotawa, Laura A. Adang, Karthikeyan Radhakrishnan, Rebecca C. Ahrens-Nicklas
Published 2020-05-01

Recognition and ER Quality Control of Misfolded Formylglycine-Generating Enzyme by Protein Disulfide Isomerase

by Lars Schlotawa, Michaela Wachs, Olaf Bernhard, Franz J. Mayer, Thomas Dierks, Bernhard Schmidt, Karthikeyan Radhakrishnan
Published 2018-07-01

A homozygous missense variant of SUMF1 in the Bedouin population extends the clinical spectrum in ultrarare neonatal multiple sulfatase deficiency

by Orna Staretz‐Chacham, Lars Schlotawa, Ohad Wormser, Inbal Golan‐Tripto, Ohad S. Birk, Carlos R. Ferreira, Thomas Dierks, Karthikeyan Radhakrishnan
Published 2020-09-01